Professor Edel O'Toole

Edel O'Toole

Professor of Molecular Dermatology/Honorary Consultant Dermatologist

FMD, Blizard, Cell Biology and Cutaneous
Queen Mary University of London

Research

rare skin disorders, keratinocyte, skin barrier, basement membrane, therapy

Skin Models

Interests

I have an interest in 3D models simulating rare skin disorders including models derived from patient keratinocytes and engineered models with stable knockdown or CrispR-Cas9 gene editing to simulate rare disease-causing variants. Disease interests include pachyonychia congenita, harlequin ichthyosis and epidermolysis bullosa.

Publications

solid heart iconPublications of specific relevance to Predictive in vitro Models

2026

Unravelling the threads of central centrifugal cicatricial alopecia
McCarthy RL, O'Toole EA
Journal of Investigative Dermatology, Elsevier vol. 146 (6), 1455-1456.  
09-03-2026
ILVEN revisited: A mosaic spectrum rather than a single disease
Modak R, O'Toole EA
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 40 (3), 331-332.  
25-02-2026

2025

GLI2 and FLNB Define Periocular Morphoeic Basal Cell Carcinoma
Bladen JC, Wang J, Moosajee M, Rahman M, Sangaralingam A, Gogna VK, Chelala C, O’Toole EA et al.
International Journal of Molecular Sciences, Mdpi vol. 26 (23) 
25-11-2025
A single-cell and spatial genomics atlas of human skin fibroblasts reveals shared disease-related fibroblast subtypes across tissues
Steele L, Olabi B, Roberts K, Mazin PV, Koplev S, Tudor C, Rumney B, Admane C et al.
Nature Immunology, Springer Nature vol. 26 (10), 1807-1820.  
24-09-2025
New gene-based classification of ichthyoses and palmoplantar keratodermas: Hereditary epidermal differentiation disorders
Paller AS, Akiyama M, Hernández-Martín Á, Mazereeuw-Hautier J, Sprecher E, Initiative REDD
Journal of The American Academy of Dermatology, Elsevier vol. 94 (1), 388-389.  
01-09-2025
65121 Atopic dermatitis and allergic sensitisation in South Asian children in London
McCarthy R, Kwon J, Christodoulou MN, Hughes A, Sim K, Thomas B, O'Toole E
Journal of The American Academy of Dermatology, Elsevier vol. 93 (3) 
01-09-2025
0563 TRPV3 novel inhibitor KM-023 as a potential oral treatment for keratodermas
Brener E, Marchal L, Caley M, Mashriki T, McGrath M, Vaisman B, Michel D, Barak SL et al.
Journal of Investigative Dermatology, Elsevier vol. 145 (8) 
01-08-2025
The Importance of Shared Patient Voices in Advancing Science for Genodermatoses on a Global Scale
van Veen FCAP, Sprecher E, Schwartz J, Baker T, O'Toole EA, Veldman K, Aldwin-Easton M, Gliksohn A et al.
Journal of Investigative Dermatology, Elsevier vol. 145 (9), 2127-2130.  
01-07-2025
SG03 A rare diagnosis of tyrosinaemia type II in a patient with palmoplantar keratoderma
Shah SFH, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (Supplement_1) 
27-06-2025
Comment on ‘A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders’: reply from authors
Hernández-Martín Á, Paller AS, Sprecher E, Akiyama M, Gostynski A, Mazereeuw-Hautier J, Akiyama M, Aldwin-Easton M et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (3), 576-577.  
02-05-2025
Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Akiyama M, Choate K, Hernández-Martín Á, Aldwin-Easton M, Bodemer C, Gostyński A, Hovnanian A, Ishida-Yamamoto A et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (4), 619-641.  
01-05-2025
Management of congenital ichthyoses: guidelines of care: Part two: 2024 update
Mazereeuw-Hautier J, Paller AS, O’Toole E, Dreyfus I, Bodemer C, Akiyama M, Diociaiuti A, Hachem ME et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (1), 28-43.  
07-04-2025
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Paller AS, Teng J, Mazereeuw-Hautier J, Hernández-Martín Á, Tournier CG, Hovnanian A, Aldwin-Easton M, Tadini G et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (4), 592-618.  
04-04-2025
Management of congenital ichthyoses: guidelines of care: Part one: 2024 update
Mazereeuw-Hautier J, Paller AS, Dreyfus I, Sprecher E, O’Toole E, Bodemer C, Akiyama M, Diociaiuti A et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (1), 16-27.  
28-03-2025
A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders
Hernández-Martín Á, Paller AS, Sprecher E, Akiyama M, Tournier CG, Aldwin-Easton M, Bodemer C, Choate K et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (3), 544-548.  
28-03-2025
Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Sprecher E, Ishida-Yamamoto A, Schwartz J, Akiyama M, Aldwin-Easton M, Choate K, Fischer J, Gostyński A et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 193 (3), 364-380.  
19-03-2025
Rare disease gene association discovery in the 100,000 Genomes Project
Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M et al.
Nature, Springer Nature, 1-9.  
26-02-2025
Scabies Infestations
Oldham J, O’Toole E
Jama: The Journal of The American Medical Association, American Medical Association (Ama) vol. 333 (6), 538-538.  
11-02-2025
Evaluation of the Foot Function Index in pachyonychia congenita
Oldham J, Stuart BL, McCarthy RL, Schwartz J, Evans H, Hansen D, O’Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 192 (5), 947-948.  
06-01-2025

2024

Biologics in congenital ichthyosis: an incomplete fix
Shah SFH
British Journal of Dermatology, Oxford University Press (Oup) vol. 192 (2), 187-188.  
06-12-2024
232 JAK Inhibitors to Restore Skin Barrier Function in a Mouse Model of Harlequin Ichthyosis
Giusto E, Jones E, Ahmed A, Cottle D, Smyth I, Caley M, Rognoni E, O’Toole EA
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 
01-12-2024
182 Dissecting Epidermolysis Bullosa Heterogeneity
Garcha P, Petrof G, Martinez A, McGrath JA, O’Toole EA, Rognoni E, Caley M
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 
01-12-2024
517 Multiomics Atlas of oral and skin tissues reveals fibroblast heterogeneity
Pereira DG, Annusver K, Kirk TB, Matuck B, O’Toole EA, Sequeira I
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 
01-12-2024
521 Transcriptional and epigenetic changes drive increased cellular plasticity in keloid fibroblasts
Tekkela S, Drudi E, Shaw TJ, Philpott M, O’Toole EA, Rognoni E
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 
01-12-2024
542 Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk TB, O’Toole EA, Rognoni E
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 
01-12-2024
195 Reduced filaggrin expression reduces ERK signalling and disrupts desmosomes in atopic eczema
Hughes A, Coppock L, Tachie-Menson T, Bjorn T, Doykov I, MIlls K, O’Toole EA, O’Shaughnessy R
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 
01-12-2024
Weekly Intraperitoneal Injection of Tamoxifen in an Inducible In Vivo Model of Junctional Epidermolysis Bullosa Generates Early and Advanced Disease Phenotypes
Jones EM, Garcha P, Aumailley M, O'Toole EA, Rognoni E, Caley M
Jid Innovations, Elsevier vol. 5 (2) 
22-11-2024
Itching for innovation: the role of aryl hydrocarbon receptor agonists as a future therapy for atopic dermatitis
Wazir A, O’Toole EA
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 50 (4), 747-754.  
21-11-2024
Non‐pachyonychia congenita conditions in the International Pachyonychia Congenita Research Registry
Wittmer AN, Nguyen CM, O'Toole E, Evans H
International Journal of Dermatology, Wiley vol. 64 (7), 1285-1287.  
14-11-2024
Celebrating 20 Years of the International Pachyonychia Congenita Consortium
Coulombe PA, Hansen D, Hickerson R, Hovnanian A, O'Toole EA, Kelsell DP, Evans H
Journal of Investigative Dermatology, Elsevier vol. 145 (4), 725-727.  
28-10-2024
Erosive lichen planus: an unmet disease burden
Macken JH, Senusi A, O’Toole EA, Caley M, Rognoni E, Fortune F
Frontiers in Medicine, Frontiers vol. 11 
17-10-2024
A prenatal skin atlas reveals immune regulation of human skin morphogenesis
Gopee NH, Winheim E, Olabi B, Admane C, Foster AR, Huang N, Botting RA, Torabi F et al.
Nature, Springer Nature vol. 635 (8039), 679-689.  
16-10-2024
Upregulation of keratin 15 is required for varicella-zoster virus replication in keratinocytes and is attenuated in the live attenuated vOka vaccine strain
Tommasi C, Yogev O, Yee MB, Drousioti A, Jones M, Ring A, Singh M, Dry I et al.
Virology Journal, Springer Nature vol. 21 (1) 
09-10-2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
Maharaj AV, Ishida M, Rybak A, Elfeky R, Andrews A, Joshi A, Elmslie F, Joensuu A et al.
Nature Communications, Springer Nature vol. 15 (1) 
28-09-2024
LB941 KM-001, a novel TRPV3 inhibitor, demonstrates safety and preliminary efficacy in Phase 1b clinical study for the treatment of palmoplantar keratoderma
Cernova J, Eskin-Schwartz M, Atzmony L, Samuelov L, De Brito M, Chan JP, Aviezer D, Brener E et al.
Journal of Investigative Dermatology, Elsevier vol. 144 (8) 
01-08-2024
771 Novel TRPV3 inhibitors developed for the treatment of Palmoplantar keratodermas, demonstrate safety and efficacy in preclinical models
Idrissi M, Caley M, Aviezer D, Brener E, Mashriki T, Barak SL, Michel D, O’Toole EA et al.
Journal of Investigative Dermatology, Elsevier vol. 144 (8) 
01-08-2024
Mainstreaming genetic testing in dermatology in the UK
O’Connor C, Passby L, Fields C, McGrath J, O’Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (5), 832-833.  
31-07-2024
Exploring the role of cytokeratin 17 in skin tumorigenesis and human papillomavirus persistence
de Brito M, O’Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (6), 862-863.  
25-07-2024
P095 Ten cases of scabies successfully treated with topical ivermectin
Oldham J, Sahota A, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i60-i60.  
28-06-2024
SG09 Ichthyosis prematurity syndrome: from birth to adulthood
Darwish I, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i185-i185.  
28-06-2024
GD03 (P095) Ten cases of scabies successfully treated with topical ivermectin
Oldham J, Sahota A, O’Toole E, Cunningham M
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i162-i162.  
28-06-2024
P083 Ichthyosis vulgaris in a South Asian population with atopic eczema: prevalence, clinical phenotypes and filaggrin variants
Chan J, Tan XL, Thomas B, Hughes A, Tawfik S, Dhoat S, Atkar R, Begum J et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i53-i54.  
28-06-2024
O11 Associations between hyperlinearity of the sole and filaggrin variants in atopic eczema in a South Asian population: a cross-sectional study
Tan XL, Chan J, Thomas B, Van Duijvenboden S, Hogan S, Hughes A, Tawfik S, Dhoat S et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i6-i7.  
28-06-2024
SG10 Ichthyosis vulgaris in a South Asian population with atopic eczema: prevalence, clinical phenotypes and filaggrin variants
Chan J, Tan XL, Thomas B, Hughes A, McCarthy R, Tawfik S, Dhoat S, Atkar R et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i185-i186.  
28-06-2024
P038 Impact of cumulative low-level ozone on keratinocytes and implications for atopic eczema pathogenesis
Tawfik S, Thomas B, Caley M, Jones E, O’Shaughnessy R, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i31-i32.  
28-06-2024
SG07 Evaluation of the Foot Function Index in pachyonychia congenita
Oldham J, Stuart B, McCarthy R, Schwartz J, Evans H, Hansen D, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (Supplement_1), i184-i184.  
28-06-2024
Pachyonychia congenita: pathogenesis of pain and approaches to treatment
McCarthy RL, de Brito M, O’Toole EA
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 49 (12), 1510-1517.  
28-05-2024
P33 Skinvaders: gamification of the skin barrier to engage school-age children in the biology of the skin
de Brito M, Green F, McCarthy R, Rees M, Balkwill F, O’Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (6), e94-e95.  
17-05-2024
P10 Janus kinase inhibitors to restore skin barrier function in a mouse model of Harlequin ichthyosis
Giusto E, Jones E, Enjalbert F, Ahmed A, Caley M, Rognoni E, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (6), e83-e84.  
17-05-2024
O19 Improvement of a junctional epidermolysis bullosa mouse model
Jones E, Garcha P, Aumailley M, O’Toole E, Rognoni E, Caley M
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (6), e77-e77.  
17-05-2024
P12 Transcriptional and epigenetic changes drive increased cellular plasticity in keloid fibroblasts
Tekkela S, Hight-Warburton W, Shaw T, Philpott M, O’Toole E, Rognoni E
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (6), e84-e84.  
17-05-2024
P15 Understanding the role of cathepsin H in atopic dermatitis pathogenesis
Tachie-Menson T, Hughes A, O’Toole E, O’Shaughnessy R
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (6), e85-e86.  
17-05-2024
P17 Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk T, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (6), e86-e87.  
17-05-2024
O08 Exploring the effect of skin ageing-related basement membrane collagen loss on nuclear mechanics
Summan S, Mayes A, Gunn D, Madapura P, Gautrot J, Caley M, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (6), e71-e72.  
17-05-2024
Loss-of-function FLG mutations are associated with reduced history of acne vulgaris in a cohort of patients with atopic eczema of Bangladeshi ancestry in East London
Hughes AJ, Barbosa E, Cernova J, Thomas BR, O’Shaughnessy RFL, O’Toole EA
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 49 (12), 1547-1553.  
15-05-2024
A case of Olmsted syndrome with dramatic response to erlotinib
Oldham J, O’Toole E
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 49 (12), 1755-1757.  
13-05-2024
Severe atypical juvenile pityriasis rubra pilaris diagnosed in adulthood with a dramatic improvement with ustekinumab
McCarthy RL, Oldham J, Barbosa E
Skin Health and Disease, Oxford University Press (Oup) vol. 4 (4) 
11-04-2024
A cross-sectional study of erythromelalgia in patients with pachyonychia congenita
McCarthy RL, Schwartz J, Oldham J, Bodemer C, Greco C, Hansen CD
British Journal of Dermatology, Oxford University Press (Oup) vol. 191 (2), 300-302.  
08-04-2024
A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma
Del Caño LR, South AP, O'Toole EA, Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 144 (9), 2092-2096.  
23-03-2024
Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study
Papanikolaou M, Nattkemper L, Benzian-Olsson N, Liu L, Lu H, Kadiyirire T, Hou P-C, Aala W et al.
Journal of The American Academy of Dermatology, Elsevier vol. 91 (1), 130-133.  
13-03-2024
Vitamin D deficiency and atopic dermatitis severity in a Bangladeshi population living in East London: A cross‐sectional study
McCarthy RL, Tawfik SS, Theocharopoulos I, McDonald B, Dhoat S
Skin Health and Disease, Oxford University Press (Oup) vol. 4 (3) 
12-03-2024
Cutaneous Response to Injury and Wound Healing
O'Toole EA
In Rook's Textbook of Dermatology, Wiley 1-17.  
20-02-2024
P11 A Rare and Serious Cause of “Blueberry Muffin Syndrome”
Oldham J, Dunnigan A, Barbosa E, Huang S, McDonald B
British Journal of Dermatology, Oxford University Press (Oup) vol. 190 (Supplement_1), i7-i8.  
03-01-2024
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability
Clowes V, Ma X, Maude H, Dennis C, Gao Q, Quinn G, O’Toole EA, Batta K
Human Mutation, Wiley vol. 2024 (1) 
01-01-2024

2023

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches
O'Toole EA, Kelsell DP, Caterina MJ, de Brito M, Hansen D, Hickerson RP, Hovnanian A, Kaspar R et al.
Journal of Investigative Dermatology, Elsevier vol. 144 (4), 748-754.  
15-12-2023
Large Congenital Cutaneous Mastocytoma Presenting With Recurrent Persistent Blistering: A Case Report
Cernova J, Patel M, Ligaj M, Goldsmith P, O'Toole E, Atkar R
Cureus, Springer Nature vol. 15 (12) 
11-12-2023
Pachyonychia Congenita Project: Advancing Research and Drug Development through Collaboration
Schwartz JN, Evans HA, Hansen CD
The Keio Journal of Medicine, Keio Journal of Medicine vol. 74 (1), 61-66.  
08-12-2023
Pachyonychia Congenita: Clinical Features and Future Treatments
McCarthy RL, de Brito M, O'Toole E
The Keio Journal of Medicine, Keio Journal of Medicine vol. 74 (1), 52-60.  
28-09-2023
LB1754 Treatment of human palmoplantar keratoderma skin equivalents with a TRPV3 antagonist, KM-001
Caley M, Idrissi M, Braiman L, Brener E, O'Toole E
Journal of Investigative Dermatology, Elsevier vol. 143 (9) 
01-09-2023
Cathepsin-C mutation in an individual with phenotypic features of Haim–Munk syndrome: a case report
McCarthy RL, Gnanappiragasam D, Scorer M, Taylor M
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 48 (11), 1298-1300.  
26-07-2023
P16 How does skin ageing-related basement membrane collagen loss affect the nucleus?
Summan SK, Mayes A, Gunn D, Gautrot J, Caley M, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 189 (1), e20-e20.  
07-07-2023
O16 The novel roles of laminin α3 in epidermal barrier function and metabolism
Parzymies P, Jones EM, Mayes A, Messenger D, O’Toole E, Caley M
British Journal of Dermatology, Oxford University Press (Oup) vol. 189 (1), e11-e11.  
07-07-2023
O14 Junctional epidermolysis bullosa: repairing the epidermal lipid barrier
Jones E, Marsh S, O'Shaughnessy R, Aumailley M, McGrath J, O’Toole E, Caley M
British Journal of Dermatology, Oxford University Press (Oup) vol. 189 (1), e10-e10.  
07-07-2023
O13 JAK inhibitors to restore skin barrier function in ARCI
Giusto E, Enjalbert F, Rognoni E, Caley M, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 189 (1), e9-e10.  
07-07-2023
P08 Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk T, Forster L, O’Toole E, Gupta H, Rognoni E
British Journal of Dermatology, Oxford University Press (Oup) vol. 189 (1), e17-e17.  
07-07-2023
P31 Dissecting the epigenetic and transcriptional regulators in keloid scars
Tekkela S, Drudi EM, Shaw T, Philpott M, O’Toole E, Rognoni E
British Journal of Dermatology, Oxford University Press (Oup) vol. 189 (1), e26-e26.  
07-07-2023
PA07 (P65) Vitamin D deficiency is associated with atopic dermatitis severity in a Bangladeshi population living in the UK
McCarthy RL, Thomas BR, Tawfik SS, Atkar R, Dhoat S, Hughes A
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (Supplement_4) 
26-06-2023
P65 Vitamin D deficiency is associated with atopic dermatitis severity in a Bangladeshi population living in the UK
McCarthy RL, Thomas BR, Tawfik SS, Atkar R, McDonald B, Hughes A
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (Supplement_4) 
26-06-2023
BG11 Palmoplantar keratoderma with mutations in filaggrin and desmoglein-1 genes
McCarthy RL, O’Toole E
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (Supplement_4) 
26-06-2023
P102 Severe atopic eczema is associated with reduced acne vulgaris in Bangladeshi children and young adults: a retrospective analysis from a cross-sectional study
Hughes A, Barbosa E, Cernova J, Thomas B, O’Toole E, O'Shaughnessy R
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (Supplement_4) 
26-06-2023
BG03 The first case of Haim–Munk syndrome in the UK
McCarthy R, Scorer M, Taylor M
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (Supplement_4) 
26-06-2023
BI27 Strongyloides stercoralis screening in dermatology
Oldham J, Lambourne J, O’Toole E
 
26-06-2023
PA24 Abnormal interferon signature in a patient with chilblain lupus
Oldham J, O’Toole E
 
26-06-2023
A retrospective study on the liver toxicity of oral retinoids in Chanarin–Dorfman syndrome
Valette C, Jonca N, Fischer J, Pernin‐Grandjean J, Tournier CG, Diociaiuti A, Neri I, Dreyfus I et al.
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 37 (10), e1237-e1241.  
20-06-2023
RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis
McGeoghan F, Camera E, Maiellaro M, Menon M, Huang M, Dewan P, Ziaj S, Caley MP et al.
Frontiers in Molecular Biosciences, Frontiers vol. 10 
07-06-2023
Interview: Edel O’Toole
O'Toole E
Emj Dermatology, European Medical Group 
31-05-2023
ISID1458 - Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Rognoni E, Kirk T
, Morressier 
07-05-2023
898 The proteasome inhibitor PTTC restores the lipid barrier in a harlequin ichthyosis in vitro skin model
Giusto E, Arbiser J, O'Toole E
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
1157 Ozone as an aggravating factor in atopic eczema
Tawfik SS, Thomas B, Jones E, Caley M, O'Shaughnessy R, O'Toole E
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
786 IL-4 stimulates IL-1R2 upregulation in atopic dermatitis keratinocytes
Baruah K, Koh L, Tham K, O'Shaughnessy R, O'Toole E, Common JE
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
753 Repairing the epidermal skin barrier in an in vivo model of junctional epidermolysis bullosa
Jones E, Marsh S, Aumailley M, McGrath JA, O'Toole E, Rognoni E, Caley M
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
741 The effect of skin ageing-related basement membrane collagen loss on the nucleus
Summan SK, Mayes A, Gunn DA, Gautrot J, Caley M, O'Toole E
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
1458 Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk T, Forster L, O'Toole E, Gupta H, Rognoni E
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
763 Novel roles of laminin α3 in epidermal homeostasis
Parzymies PJ, Jones E, Mayes A, Messenger D, O'Toole E, Caley M
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
ISID1157 - Ozone as an aggravating factor in atopic eczema
Tawfik S, O'Toole E, Thomas B, Caley M, Jones E, O'Shaughnessy R
, Morressier 
29-04-2023
Flooding and Climate Change and its Effect on Skin Disease
Junejo MH, Larik EA, Akinkugbe A, O'Toole EA
Journal of Investigative Dermatology, Elsevier vol. 143 (8), 1348-1350.  
08-04-2023
Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation
Smith CJ, Williams JL, Hall C, Casas J, Caley MP, O'Toole EA, Prasad R, Metherell LA
Journal of Lipid Research, Elsevier vol. 64 (4) 
02-03-2023
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population
Thomas BR, Tan XL, Van Duijvenboden S, Hogan SC, Hughes AJ, Tawfik SS, Dhoat S, Atkar R et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (6), 785-792.  
25-02-2023
Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk T, Forster L, O'Toole E, Gupta H, Rognoni E
 
01-01-2023
Ozone as an aggravating factor in atopic eczema
Tawfik SS, Thomas B, Jones E, Caley M, O'Shaughnessy R, O'Toole E
 
01-01-2023
IL-4 stimulates IL-1R2 upregulation in atopic dermatitis keratinocytes
Baruah K, Koh L, Tham K, O'Shaughnessy R, O'Toole E, Common JE
 
01-01-2023
Repairing the epidermal skin barrier in an in vivo model of junctional epidermolysis bullosa
Jones E, Marsh S, Aumailley M, McGrath JA, O'Toole E, Rognoni E, Caley M
 
01-01-2023
The proteasome inhibitor PTTC restores the lipid barrier in a harlequin ichthyosis in vitro skin model
Giusto E, Arbiser J, O'Toole E
 
01-01-2023
The effect of skin ageing-related basement membrane collagen loss on the nucleus
Summan SK, Mayes A, Gunn DA, Gautrot J, Caley M, O'Toole E
 
01-01-2023
Novel roles of laminin α3 in epidermal homeostasis
Parzymies PJ, Jones E, Mayes A, Messenger D, O'Toole E, Caley M
 
01-01-2023
Pachyonychia Congenita: Clinical Features and Future Treatments
Mccarthy RL, de Brito M, O'Toole E
Keio Journal of Medicine 
01-01-2023
Treatment of human palmoplantar keratoderma skin equivalents with a TRPV3 antagonist, KM-001
Caley M, Idrissi M, Braiman L, Brener E, O'Toole E
 
01-01-2023

2022

Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London
Tawfik SS, Thomas BR, Kelsell DP, Grigg J, O’Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (4), 524-532.  
20-12-2022
626 Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk T, O’Toole EA
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
261 A novel skin phenotype resulting from heterozygous deletion of six keratin genes
Mohamad J, Sarig O, Beattie P, Assaf S, O’Toole EA, Schwartz J, Samuelov L
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
245 Deep learning prediction of filaggrin mutation status from palmar images
Steele L, Thomas B
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
Tuberous xanthoma secondary to homozygous familial hypercholesterolaemia: a life‐threatening diagnosis
Kazmi A, Frewen J, McDonald B
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 47 (12), 2336-2338.  
01-12-2022
216 Understanding the Mechanisms of Epidermal Barrier Damage and Repair Using 3D Skin Equivalent Models
Dina DO, Caley MP, Raj N, O’Toole EA, Connelly J
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
099 Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status
Thomas B, Kelsell D
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
191 Junctional Epidermolysis Bullosa:Repairing The Epidermal Skin Barrier
Jones E, Marsh S, O’Shaughnessy R, Aumailley M, McGrath JA, O’Toole EA, Caley MP
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
183 Reduced FLG expression in atopic eczema reduces expression of key barrier genes and increases BMP signalling
Hughes AJ, Thomas B, O’Toole EA, O’Shaughnessy R
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
144 Carbonylated proteins and Ozone in atopic eczema
Tawfik SS, Thomas B, Jones E, Caley MP, O’Shaughnessy R, O’Toole EA
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
184 The role of the Laminin 332 in cholesterol transport in dry and Aged skin
Parzymies P, Jones E, Caley MP, O’Toole EA, Messenger D, Mayes A
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions
Smith CJ, Williams JL, Hall C, Caley MP, O’Toole EA, Prasad R, Metherell LA
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
603 Dissecting the role of fibroblasts in homeostasis and wound healing of the oral mucosa
Pereira DG, Kirk T, Mavros A, Rognoni E, Kasper M
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes
Mohamad J, Sarig O, Malovitski K, Assaf S, O’Toole E, Evans H
British Journal of Dermatology, Oxford University Press (Oup) vol. 187 (5), 773-777.  
01-11-2022
Safety outcomes for topical corticosteroid use in eczema herpeticum: a single-centre retrospective cohort study
Steele L, Innes S, Cunningham M, McDonald B
British Journal of Dermatology, Oxford University Press (Oup) vol. 188 (2), 295-297.  
28-10-2022
ESDR627 - Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk T, O'Toole E
, Morressier 
27-09-2022
ESDR144 - Carbonylated proteins and Ozone in atopic eczema
Tawfik S, Thomas B, Jones E, Caley M, O'Shaughnessy R, O'Toole E, Thomas B, Prasad Baruah K
, Morressier 
26-09-2022
ESDR216 - Understanding the Mechanisms of Epidermal Barrier Damage and Repair Using 3D Skin Equivalent Models
Dina D, Caley M, Raj N, O'Toole E, Connelly J
, Morressier 
25-09-2022
ESDR261 - A novel skin phenotype resulting from heterozygous deletion of six keratin genes
Mohamad J, Sarig O, Beattie P, Malovitski K, O'Toole E, Evans H, Samuelov L
, Morressier 
23-09-2022
ESDR184 - The role of the Laminin 332 in cholesterol transport in dry and Aged skin
Parzymies P, Jones E, Caley M, O'Toole E, Messenger D, Mayes A
, Morressier 
23-09-2022
ESDR181 - Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions.
Smith C, Williams J, Hall C, Caley M, O'Toole E, Prasad R, Metherell L
, Morressier 
22-09-2022
ESDR191 - Junctional Epidermolysis Bullosa:Repairing The Epidermal Skin Barrier
Jones E, Marsh S, O'Shaughnessy R, Aumailley M, McGrath J, O'Toole E, Caley M
, Morressier 
22-09-2022
ESDR099 - Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status
Thomas B, Kelsell D, O'Toole E
, Morressier 
21-09-2022
ESDR603 - Dissecting the role of fibroblasts in homeostasis and wound healing of the oral mucosa
Pereira D, Kirk T, Mavros A, Rognoni E, O'Toole E
, Morressier 
14-09-2022
Investigating wound healing characteristics of gingival and skin keratinocytes in organotypic cultures
Smith CJ, Parkinson EK, Yang J, Pratten J, O'Toole EA, Caley MP, Braun KM
Journal of Dentistry, Elsevier vol. 125 
09-08-2022
Effects of systemic therapies on pruritus in adults with atopic dermatitis: a systematic review and meta‐analysis
Tan XL, Thomas BR, Tan YJ
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 47 (4), 658-666.  
01-04-2022
Genotype-phenotype correlations of neurovascular structures on the feet in patients with pachyonychia congenita: A cross-sectional study
Tan XL, Thomas BR, Steele L, O'Toole EA
 
02-03-2022
The role of the laminin 332-actin-cholesterol axis in skin conditions with altered lipid profiles
Parzymies P, Jones E, Caley M, O'Toole E, Mayes A, Messenger D
 
01-01-2022
Investigating the role of the basement membrane in modulating the inflammasome in ageing skin
Jones E, O'Toole E, Caley M
 
01-01-2022
Reduced filaggrin expression is associated with increased BMP signalling
Hughes A, Thomas B, O'Toole E, O'Shaughnessy R
 
01-01-2022
A cross-sectional study examining the role of exposure to the ambient environment and eczema severity
Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Krupiczojc MA, Rahman SR, Ahmed RA et al.
 
01-01-2022
Quality of life in Bangladeshi children and families with atopic eczema
Tawfik SS, Thomas B, Robinson EJ, Ahmed R, Begum R, Khanam H, Kelsell D, O'Shaughnessy R et al.
 
01-01-2022
Finding a new treatment for X-linked recessive ichthyosis
Huang M, Miettinen S, Caley M, O'Toole E
 
01-01-2022
Investigating the role of the basement membrane in modulating the skin inflammasome
Jones E, Stewart-McGuiness C, O'Toole E, Caley M
 
01-01-2022
Spatially resolved poised immunity in human skin
Fletcher J, Vegh P, Reynolds G, Botting RA, Huang N, Dixon D, Green K, Stephenson E et al.
BRITISH JOURNAL OF DERMATOLOGY
01-01-2022
Prediction of FLG genotype using human and computer-aided phenotype extraction with random forest machine learning
Thomas BR, Steele L, Tanaka RJ
 
01-01-2022
Prediction of FLG genotype using human and computer-aided phenotype extraction with random forest machine learning
Thomas BR, Steele L, O'Toole EA
 
01-01-2022
A new variant in HOXC13 associated with a severe phenotype of pure hair and nail ectodermal dysplasia
Quinn G, O'Toole E, Dennis C
 
01-01-2022
Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions
Smith CJ, Williams JL, Hall C, Caley MP, O'Toole EA, Prasad R, Metherell LA
 
01-01-2022
Carbonylated proteins and Ozone in atopic eczema
Tawfik SS, Thomas B, Jones E, Caley MP, O'Shaughnessy R, O'Toole EA
 
01-01-2022
Dissection of the molecular and cellular heterogeneity of dermal fibroblasts in skin fibrosis
Ahmed A, Kirk T
 
01-01-2022
Reduced FLG expression in atopic eczema reduces expression of key barrier genes and increases BMP signalling
Hughes AJ, Thomas B, O'Toole EA, O'Shaughnessy R
 
01-01-2022
Junctional Epidermolysis Bullosa:Repairing The Epidermal Skin Barrier
Jones E, Marsh S, O'Shaughnessy R, Aumailley M, McGrath JA, O'Toole EA, Caley MP
 
01-01-2022
Deep learning prediction of filaggrin mutation status from palmar images
Steele L, Thomas B
 
01-01-2022
A novel skin phenotype resulting from heterozygous deletion of six keratin genes
Mohamad J, Sarig O, Beattie P, Malovitski K, Assaf S, Schwartz J, Evans H
 
01-01-2022
Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status
Thomas B, Kelsell D, O'Toole EA
 
01-01-2022
Dissecting the role of fibroblasts in homeostasis and wound healing of the oral mucosa
Pereira DG, Kirk T, Mavros A, Rognoni E, O'Toole EA
 
01-01-2022
The role of the Laminin 332 in cholesterol transport in dry and Aged skin
Parzymies P, Jones E, Caley MP, O'Toole EA, Messenger D, Mayes A
 
01-01-2022
Understanding the Mechanisms of Epidermal Barrier Damage and Repair Using 3D Skin Equivalent Models
Dina DO, Caley MP, Raj N, O'Toole EA, Connelly J
 
01-01-2022

2021

Haemorrhagic bullae and purpura associated with the Bruton tyrosine kinase inhibitor ibrutinib
Steele L, George C, Cerio R
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 47 (2), 488-490.  
09-12-2021
Prevalence and Characterization of Itch in Pachyonychia Congenita
Steele L, Schwartz J
Jama Dermatology, American Medical Association (Ama) vol. 157 (11), 1378-1380.  
01-11-2021
Modeling of Temporal Exposure to the Ambient Environment and Eczema Severity
Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Krupiczojc MA, Rahman SR, Rahman S et al.
Jid Innovations, Elsevier vol. 2 (1) 
09-10-2021
054 Machine learning prediction of filaggrin mutation status from palmar images: a proof-of- concept study
Steele L, Thomas B, O’Toole EA
Journal of Investigative Dermatology, Elsevier vol. 141 (10) 
01-10-2021
179 Phenotype association with Filaggrin loss of function from the Tower Hamlets Eczema Assessment (THEA)
Thomas B, McDonald B, Dhoat S, Noimark L, Aston A, Robinson EJ, Rahman S, Hogan S et al.
Journal of Investigative Dermatology, Elsevier vol. 141 (10) 
01-10-2021
099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation
Smith CJ, Williams JL, Caley MP, O’Toole EA, Prasad R, Metherell LA
Journal of Investigative Dermatology, Elsevier vol. 141 (10) 
01-10-2021
132 Increased BMP Signalling Correlates with Increased Eczema Severity
Hughes AJ, Thomas B, O’Toole EA, O’Shaughnessy R
Journal of Investigative Dermatology, Elsevier vol. 141 (10) 
01-10-2021
The status and outcomes of registered clinical trials for Janus kinase inhibitors in alopecia areata: are unpublished trials being overlooked?
Steele L, Lee HL, Maruthappu T
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 46 (7), 1290-1292.  
14-07-2021
Proteomic signatures for perioperative oxygen delivery in skin after major elective surgery: mechanistic sub-study of a randomised controlled trial
Heywood WE, Bliss E, Bahelil F, Cyrus T, Crescente M, Jones T, Iqbal S, Paredes LG et al.
British Journal of Anaesthesia, Elsevier vol. 127 (4), 511-520.  
06-07-2021
Tape strips in dermatology research*
Hughes AJ, Tawfik SS, Baruah KP, O’Toole EA, O’Shaughnessy RFL
British Journal of Dermatology, Oxford University Press (Oup) vol. 185 (1), 26-35.  
01-03-2021
Over‐expression of stromal periostin correlates with poor prognosis of cutaneous squamous cell carcinomas
Lincoln V, Chao L, Woodley DT, Kim M, O'Toole EA, Cogan J, Mosallaei D, Wysong A
Experimental Dermatology, Wiley vol. 30 (5), 698-704.  
01-02-2021
Developmental cell programs are co-opted in inflammatory skin disease
Reynolds G, Vegh P, Fletcher J, Poyner EFM, Stephenson E, Goh I, Botting RA, Huang N et al.
Science, American Association For The Advancement of Science (Aaas) vol. 371 (6527) 
22-01-2021
Phenotype association with filaggrin loss-of-function variants in 349 individuals with eczema from the Tower Hamlets Eczema Assessment (THEA)
Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Dhoat S, Krupiczojc MA, Rahman SR et al.
 
01-01-2021
Computer-aided quantification of palmar hyperlinearity in atopic dermatitis: a proof-of-concept study
Steele L, Thomas BR, O'Toole EA
 
01-01-2021
The status and outcomes of registered clinical trials for Janus kinase inhibitors in alopecia areata: are nonpublished trials being overlooked?
Steele L, Lee HL, Maruthappu T
 
01-01-2021
Phenotype association with Filaggrin loss of function from the Tower Hamlets Eczema Assessment (THEA)
Thomas B, McDonald BS, Dhoat S, Aston A, Robinson EJ, Rahman S, Ahmed RA, Begum R et al.
 
01-01-2021
Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation
Smith CJ, Williams JL, Caley MP, O'Toole EA, Prasad R, Metherell LA
 
01-01-2021
Increased BMP Signalling Correlates with Increased Eczema Severity
Hughes AJ, Thomas B, O'Toole EA, O'Shaughnessy R
 
01-01-2021
Machine learning prediction of filaggrin mutation status from palmar images: a proof-of- concept study
Steele L, Thomas B, O'Toole EA
 
01-01-2021

2020

Distinctive clinical and histological characteristics of atrophic and hypertrophic facial photoageing
Langton AK, Ayer J, Griffiths TW, Rashdan E, Naidoo K, Caley MP, Birch‐Machin MA, O'Toole EA et al.
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 35 (3), 762-768.  
30-12-2020
Loss of the laminin subunit alpha‐3 induces cell invasion and macrophage infiltration in cutaneous squamous cell carcinoma*
Caley MP, Martins VL, Moore K, Lashari M, Nissinen L, Kähäri V, Alexander S, Jones E et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 184 (5), 923-934.  
01-12-2020
The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family
Steele L, Tawfik SS
Journal of Investigative Dermatology, Elsevier vol. 140 (11), 2111-2113.  
01-11-2020
Disseminated tinea incognita in a patient with ichthyosis vulgaris and eczema
Steele L, Hong A, Balogh P, O'Toole EA, Harwood CA, Maruthappu T
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 46 (1), 210-212.  
26-08-2020
3D model of harlequin ichthyosis reveals inflammatory therapeutic targets
Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ, O'Toole EA
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 130 (9), 4798-4810.  
10-08-2020
Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature*
Bodemer C, Steijlen P, Mazereeuw‐Hautier J
British Journal of Dermatology, Oxford University Press (Oup) vol. 184 (3), 393-400.  
17-06-2020
Severe skin reactions associated with cladribine in people with multiple sclerosis
Mateo-Casas M, Reyes S, O'Toole EA, De Trane S, Yildiz O, Allen-Philbey K, Mathews J
 
28-04-2020
Pachyonychia congenita, a paradigm for rare skin disorders
Steele L, O'Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 182 (3), 521-522.  
28-02-2020
Diagnosis and Management of Inherited Palmoplantar Keratodermas
THOMAS BR
Acta Dermato Venereologica, Mjs Publishing, Medical Journals Sweden Ab vol. 100 (7) 
01-01-2020
Not just skin deep: a complicated DRESS
Kazmi A, Maruthappu T
 
01-01-2020
Ground-level ozone exacerbates eczema in East London Bangladeshis
Thomas B, Javadzadeh S, Robinson E, Ahmed R, Begum R, Rahman S, Khanam H, Kelsell D et al.
 
01-01-2020
Paediatric atopic eczema attendance at accident and emergency in East London
Javadzadeh S, Thomas B, O'Toole E
 
01-01-2020

2019

Update on pachyonychia congenita research
Funk T, Hansen CD, Paller A
British Journal of Dermatology, Oxford University Press (Oup) vol. 182 (3), 788-789.  
13-12-2019
Mendelian Disorders of Cornification (MEDOC)
O'Toole EA
In Harper's Textbook of Pediatric Dermatology, Wiley 1524-1548.  
20-11-2019
163 Eczema: Relationships between the environment, severity and the risk of admission to hospital
Thomas BR, Javadzadeh S, Robinson E, Ahmed R, Begum R, Rahman S, Khanam H, Kelsell DP et al.
 
01-09-2019
274 Junctional Epidermolysis Bullosa: Bottom Up Control Of The Skin Barrier?
Jones EM, Marsh S, O’Shaughnessy RF, CAMERA E, Picardo M, Aumailley M, O’Toole E, Caley M
 
01-09-2019
298 Defective DNA Repair and Chromosomal Instability in RDEB
Caley M, Marsh S, Martins VL, Corbett-Jones T, Chen M, Di W, Sheer D, McGrath JA et al.
 
01-09-2019
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
Simpson JK, Martinez‐Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 182 (3), 729-737.  
26-08-2019
Stopping pachyonychia congenita plantar pain with a statin?
Theocharopoulos I
British Journal of Dermatology, Oxford University Press (Oup) vol. 181 (3), 446-447.  
06-08-2019
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes
Zamiri M, Wilson NJ, O'Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 181 (3), 618-620.  
02-06-2019
DSP 突变与致心律失常性心肌病
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (5), e169-e169.  
26-04-2019
DSP mutations and arrhythmogenic cardiomyopathy
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (5), e157-e157.  
26-04-2019
Severe skin reactions associated with Cladribine treatment in patients with multiple sclerosis (P4.2-022)
Mateo-Casas M, Reyes S, De Trane S, Yildiz O, Turner B, Mathews J
Neurology, Wolters Kluwer vol. 92 (15_supplement) 
09-04-2019
Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype
Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (5), 1114-1122.  
02-01-2019
Differential ageing responses to chronic ultraviolet irradiation: characterizing the molecular phenotype of atrophic and hypertrophic facial skin
Langton AK, Ayer J, Griffiths TW, Rashdan E, Naidoo K, Caley MP, Birch-Machin MA, O'Toole E et al.
 
01-01-2019
Type VII collagen and Nesprin 2: LINCing the basement membrane to altered cell cycle and increased DNA damage
Marsh S, Caley MP, Martins VLC, Corbett-Jones T, Chen M, Di W, Sheer D, McGrath JA et al.
 
01-01-2019
Laminin 332: bottom-up control of the skin barrier?
Jones EM, Marsh ST, O'Shaughnessy RF, Aumailley M, Camera E, Picardo M, McGrath JA, O'Toole EA et al.
 
01-01-2019
Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis
Enjalbert F, Dewan P, Caley M, Morse M, Kelsell D, O'Toole E
 
01-01-2019
Novel frameshift variant in EBP: late diagnosis of Conradi-Hunermann syndrome in a 41-year-old woman
Thomas BR, Caley MP, O'Toole EA
 
01-01-2019
Clinical phenotypes in East London Bangladeshi patients with eczema: preliminary findings from the Tower Hamlets Eczema Assessment
Thomas BR, McDonald BS, Dhoat S, Noimark L, Aston A, Robinson EJ, Rahman S, Ahmed RA et al.
 
01-01-2019
Pyogenic granulomas as a side-effect of retinoid therapy, with ADAM17 as a potential key player: a case series
Javadzadeh S, O'Toole EA
 
01-01-2019

2018

Outcomes in prevention and management of miscarriage trials: a systematic review
Smith P, Dhillon‐Smith R, O'Toole E, Cooper N, Coomarasamy A, Clark T
Bjog An International Journal of Obstetrics & Gynaecology, Wiley vol. 126 (2), 176-189.  
11-12-2018
Management of congenital ichthyoses: European guidelines of care, part two
Mazereeuw‐Hautier J, Hernández‐Martín A, O'Toole EA, Bygum A, Amaro C, Aldwin M, Audouze A, Bodemer C et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (3), 484-495.  
03-12-2018
Management of congenital ichthyoses: European guidelines of care, part one
Mazereeuw‐Hautier J, Vahlquist A, Traupe H, Bygum A, Amaro C, Aldwin M, Audouze A, Bourrat E et al.
British Journal of Dermatology, Oxford University Press (Oup) vol. 180 (2), 272-281.  
03-12-2018
Inhibitors of the NMDA-Nitric Oxide Signaling Pathway Protect Against Neuronal Atrophy and Synapse Loss Provoked by l-alpha Aminoadipic Acid-treated Astrocytes
David J, O'Toole E, O'Reilly K, Thuery G, Finlay D
Neuroscience, Elsevier vol. 392, 38-56.  
27-09-2018
P5709Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker
Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ et al.
European Heart Journal, Oxford University Press (Oup) vol. 39 (suppl_1) 
01-08-2018
Plantar pain in pachyonychia congenita
Krupiczojc MA, O'Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 179 (1), 11-12.  
01-07-2018
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes
Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J et al.
Journal of Investigative Dermatology, Elsevier vol. 138 (12), 2674-2677.  
30-05-2018
MicroRNA and transcriptome analysis in periocular Sebaceous Gland Carcinoma
Bladen JC, Wang J, Sangaralingam A, Moosajee M, Fitchett C, Chelala C, Beaconsfield M, O’Toole EA et al.
Scientific Reports, Springer Nature vol. 8 (1) 
14-05-2018
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1
Vodo D, O'Toole EA, Malchin N, Sarig O, Green KJ, Smith FJD
British Journal of Dermatology, Oxford University Press (Oup) vol. 179 (3), 755-757.  
05-05-2018
773 Striate palmoplantar keratoderma resulting from a missense mutation in DSG1
Vodo D, O'Toole E, Malchin N, Lahav A, Sarig O
Journal of Investigative Dermatology, Elsevier vol. 138 (5) 
01-05-2018
680 A role for the basement membrane in skin lipid trafficking
Jones E, Marsh S, O'Shaughnessy R, Aumailley M, O'Toole EA, Caley MP
 
01-05-2018
661 Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis
Enjalbert F, Dewan P, Caley MP, Fell B, Morse M, Kelsell D, Enright A, O'Toole EA
 
01-05-2018
812 Type VII collagen and Nesprin 2, LINCing the basement membrane to altered cell cycle and increased DNA damage
Marsh S, Caley MP, Martins V, Chen M, McGrath J, Barnes M, O'Toole EA
 
01-05-2018
Analysis of hedgehog signaling in periocular sebaceous carcinoma
Bladen JC, Moosajee M, Tracey-White D, Beaconsfield M, O’Toole EA, Philpott MP
Graefe's Archive For Clinical and Experimental Ophthalmology, Springer Nature vol. 256 (4), 853-860.  
08-02-2018
Noonan syndrome with multiple lentigines and associated craniosynostosis
McDonald BS, Pigors M, Kelsell DP, O'Toole EA, Burkitt‐Wright E
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 43 (3), 357-359.  
22-01-2018
Phenotypic spectrum of 146 cases of autosomal recessive congenital ichthyosis in England
Simpson J, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W et al.
 
01-01-2018
Understanding Angiogenesis in Squamous Cell Carcinoma with Loss of Type VII Collagen
Alexander SC, Marsh S, Caley M, O'Toole EA
 
01-01-2018
The role of laminin 332 in skin lipid biosynthesis
Jones E, Marsh S, O'Shaugnessy R, Aumailley M, O'Toole E, Caley M
 
01-01-2018
Phospholipase C-β4 regulation of chromatin via kindlin-2 in cutaneous squamous cell carcinoma
Huang M, Ruban E, Caley M, O'Toole E
 
01-01-2018
A role for the basement membrane in skin lipid trafficking
Jones E, Marsh S, O'Shaughnessy R, Aumailley M, O'Toole EA, Caley MP
 
01-01-2018
Loss of Lamα3 drives M2 macrophage differentiation in squamous cell carcinoma
Caley M, Martins V, Moore K, Lashari M, Marshall J, O'Toole E
 
01-01-2018
Investigating the role of ABCA12 in the pathomechanisms of harlequin ichthyosis
Enjalbert F, Dewan P, Caley M, Fell B, Morse M, Kelsell D, Enright A, O'Toole E
 
01-01-2018
Investigating the differences in the wound healing responses of skin and gingival keratinocytes
Smith CJ, Caley M, Parkinson EK, O'Toole EA, Pratten J, Yang J, Braun KM
 
01-01-2018
Type VII collagen and Nesprin 2, LINCing the basement membrane to altered cell cycle and increased DNA damage
Marsh S, Caley MP, Martins V, Chen M, McGrath J, Barnes M, O'Toole EA
 
01-01-2018
Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis
Enjalbert F, Dewan P, Caley MP, Fell B, Morse M, Kelsell D, Enright A, O'Toole EA
 
01-01-2018
INVESTIGATING THE DIFFERENCES IN THE WOUND HEALING RESPONSES OF SKIN AND GINGIVAL KERATINOCYTES
Smith CJ, Caley M, Parkinson EK, O'Toole EA, Pratten J, Yang J
 
01-01-2018
Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker
Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ et al.
 
01-01-2018
A paediatric case of lead poisoning from Ayurvedic medicine for the treatment of nail psoriasis
Rajpopat M, Robinson J, Chow Y, Dargan P
 
01-01-2018
Novel mutations in desmoglein 1: focal palmoplantar keratoderma in milder phenotypes
Wray EV, Wilson NJ, O'Toole E
 
01-01-2018

2017

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM
Journal of Investigative Dermatology, Elsevier vol. 138 (4), 984-987.  
11-11-2017
Core Outcome Sets in Miscarriage Trials (COSMisT) study: a study protocol
Smith P, Cooper N, Dhillon-Smith R, O’Toole E, Clark TJ, Coomarasamy A
Bmj Open, Bmj vol. 7 (11) 
01-11-2017
A profile of lipid dysregulation in harlequin ichthyosis
Ip SCI, Cottle DL, Jones LK, Weir JM, Kelsell DP, O'Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 177 (5), e217-e219.  
19-10-2017
192 Loss of keratinocyte type VII collagen induces increased DNA damage in vitro and in vivo
Marsh S, Caley M, Martins V, Barnes MR, Chen M, O’Toole EA
 
01-10-2017
088 Understanding the role of ABCA12 in the Pathogenesis of Harlequin Ichthyosis
Enjalbert F, Dewan P, Caley M, Fell B, Morse M, Kelsell DP, Enright A, O’Toole EA
 
01-10-2017
568 Investigation of the role of type VII collagen in the HIF1α induced pro-angiogenic pathway
Shams F, Krupiczojc MA, Alexander S, Rashidghamat E, McGrath J, Caley M, O’Toole EA, Harwood CA
 
01-10-2017
187 Genetic diagnosis of pachyonychia congenita and keratoderma
Smith FJ, O’Toole EA, Hansen C, Gard P, Wilson N
 
01-10-2017
336 Tumour associated macrophage recruitment in SCC
Caley M, Martins V, Moore K, Lashari M, Marshall J, O’Toole EA
 
01-10-2017
Inherited palmoplantar keratodermas: the heart of the matter
Thomas LJ, Freeman A, McGrath JA, Perrett CM
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 43 (2), 228-230.  
22-09-2017
Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma
Badowski C, Sim AYL, Verma C, Szeverényi I, Natesavelalar C, Harper J
Journal of Investigative Dermatology, Elsevier vol. 137 (9), 1914-1923.  
16-05-2017
Mutations in FAM83G cause autosomal recessive palmoplantar keratoderma with leuconychia and abundant curly hair
Maruthappu T, McGinty L, Braun K, Duit R, Sapkota G
 
01-01-2017

2016

Epidermal grafting for wound healing: a review on the harvesting systems, the ultrastructure of the graft and the mechanism of wound healing
Kanapathy M, Hachach‐Haram N, Bystrzonowski N, Connelly JT, Becker DL
International Wound Journal, Wiley vol. 14 (1), 16-23.  
27-10-2016
Desmoglein 3 acts as a potential oncogene in promoting cancer cell migration and invasion through regulating AP-1 and PKC dependent-Ezrin activation
WAN H
British Skin Foundation Skin Deep-20th Anniversary Symposium royal college of physicians, London 13 Oct 2016
13-10-2016
Cutaneous Response to Injury and Wound Healing
O'Toole EA
In Rook's Textbook of Dermatology, Ninth Edition, Wiley 1-17.  
09-10-2016
180 Mutations in FAM83G/PAWS1 cause autosomal recessive palmoplantar keratoderma with leukonychia and abundant curly hair
Maruthappu T, McGinty L, Blaydon D, Duit R, Maatta A
 
01-09-2016
183 Clinical and genetic studies reveal cutaneous phenotypes linked to desmoplakin haploinsufficiency in arrhythmogenic cardiomyopathy
Posafalvi A, Maruthappu T, Castelletti S, Syrris P
 
01-09-2016
472 Loss of Laminin α3 drives SCC invasion via ROCK signalling
Caley M, Martins V, Moore K, Lashari M, Kähäri V, Nissinen L, Donaldson M, Marshall J et al.
 
01-09-2016
132 Identification of novel pathways linked to the pathogenesis of Recessive X-Linked Ichthyosis
McGeoghan F, Menon M, Dewan P, Caley M, Donaldson M, O’Toole EA
 
01-09-2016
133 Understanding the role of ABCA12 in the pathogenesis of Harlequin Ichthyosis
Enjalbert F, Dewan P, Caley M, Fell B, Donaldson M, Kelsell DP, O’Toole EA
 
01-09-2016
569 Loss of collagen 7 drives HIF-1 alpha induced pro-angiogenic pathways
Krupiczojc MA, Caley M, Marsh S, Donaldson M, Martins V, O’Toole E
 
01-09-2016
375 Modelling and understanding pathomechanisms of X-linked recessive ichthyosis in vitro
McGeoghan FT, O’Toole E, Caley M, Menon M, Dewan P, Donaldson M
 
01-05-2016
421 Over-expression of periostin is associated with clinical outcomes and poor prognosis in cutaneous squamous cell carcinoma
Chao L, Gor V, Murrell DF, Kim M, O’Toole E, Wysong A
 
01-05-2016
380 Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes
Pigors M, Common JE, Wong C, Malik S, Scott CA, Foo J, Liu J, Margolis D et al.
 
01-05-2016
A life-threatening drug reaction
Chinthapalli S, O’Toole E
In Challenging Concepts in Neurology, Oxford University Press (Oup) 227-240.  
01-01-2016
Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa
Krupiczojc MA, O'Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 174 (1), 15-15.  
01-01-2016
ROCK and Rac1 signalling in squamous cell carcinoma with loss of laminin 332
Caley M, Martins V, Moore K, Lashari M, Donaldson M, Marshall JF, O'Toole EA
 
01-01-2016
Exome sequencing reveals multiple filaggrin mutations in Bangladeshi families with atopic eczema
Pigors M, Common JEA, Wong C, Scott CA, Foo JN, Simpson MA
 
01-01-2016
A new model for the structure of the head domains of keratins K1 and K10 and its implications for striate palmoplantar keratoderma
Badowski C, Sim AYL, Verma C, Szeverenyi I, Dang TT, Ng Y, Natesavelalar C, Benny P et al.
 
01-01-2016
Epidermal growth factor signalling mediates keratinocyte mechanoregulation
Kenny F, Kao A, Barber A, O'Toole E
 
01-01-2016
Mild arthrogryposis, renal dysfunction and cholestasis syndrome caused by a novel splice-site mutation in VPS33B
Ahmed A, McGinty L, Blaydon D, O'Toole EA
 
01-01-2016
Novel mutations in SLURP1 causing Mal de Meleda palmoplantar keratoderma with varying phenotypes
Ziaj S, Pigors M, Scott C, Lewis F, Ali I
 
01-01-2016
Noonan syndrome with multiple lentigines identified by next-generation sequencing
McDonald B, Amieva M, Kelsell DP, O'Toole EA, Kerr B
 
01-01-2016
Phospholipase C beta4 is a therapeutic target in cutaneous squamous cell carcinoma
O'Toole EA, Ruban EL, Balogun M, Martins VL, Caley MP, Falasca M
 
01-01-2016
Harlequin Ichthyosis: genetic, functional and clinical investigations
Kelsell DP, Rajpopat S, O'Toole EA
 
01-01-2016

2015

Acral peeling skin syndrome associated with a novel CSTA gene mutation
Muttardi K, Nitoiu D, Kelsell DP
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 41 (4), 394-398.  
18-12-2015
A Novel Fully Humanized 3D Skin Equivalent to Model Early Melanoma Invasion
Hill DS, Robinson NDP, Caley MP, Chen M, O'Toole EA, Armstrong JL, Przyborski S, Lovat PE
Molecular Cancer Therapeutics, American Association For Cancer Research (Aacr) vol. 14 (11), 2665-2673.  
01-11-2015
The future of U.K. dermatology translational research through the Oracle of Delphi
Thomson J, O'Toole EA
British Journal of Dermatology, Oxford University Press (Oup) vol. 173 (5), 1122-1123.  
01-11-2015
Cytoskeletal protein Flightless I inhibits apoptosis, enhances tumor cell invasion and promotes cutaneous squamous cell carcinoma progression
Kopecki Z, Yang GN, Jackson JE, Melville EL, Caley MP, Murrell DF, Darby IA, O’Toole EA et al.
Oncotarget, Impact Journals vol. 6 (34), 36426-36440.  
19-10-2015
Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC
Martins VL, Caley MP, Moore K, Szentpetery Z, Marsh ST, Murrell DF, Kim MH, Avari M et al.
Journal of The National Cancer Institute, Oxford University Press (Oup) vol. 108 (1) 
16-10-2015
Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita‐K6c)
Wee JS, Smith FJD
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 30 (8), 1415-1416.  
24-08-2015
Expanding the Phenotypic Spectrum of Olmsted Syndrome
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, O'Toole EA, Schwartz ME
Journal of Investigative Dermatology, Elsevier vol. 135 (11), 2879-2883.  
12-06-2015
Metalloproteinases and Wound Healing
Caley MP, Martins VLC, O'Toole EA
Advances in Wound Care, Sage Publications vol. 4 (4), 225-234.  
01-04-2015
Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJD, Wilson NJ, Cole C et al.
American Journal of Human Genetics, Elsevier vol. 96 (3), 440-447.  
12-02-2015
Keratins and skin disease
Knöbel M, Smith FJD
Cell and Tissue Research, Springer Nature vol. 360 (3), 583-589.  
27-01-2015
Epidermal growth factor signalling mediates mechanoregulation of keratinocyte proliferation
Kenny F, Kao A, Barber A, O'Toole E
 
01-01-2015
Generation of an in vitro three-dimensional model of X-linked recessive ichthyosis
McGeoghan F, Dewan P, Caley M, Donaldson M, O'Toole E
 
01-01-2015
A novel peeling skin syndrome
Chinthapalli S, Buckley D, Lin Z, Nitoiu D, Kelsell D, O'Toole E
 
01-01-2015
Squamous Cell Carcinoma progression and Laminin 332
Caley M, Martins V, Marsh S, Moore K, Lashari M, Donaldson MJ, Marshall J, O'toole E
 
01-01-2015
Modelling X-linked recessive ichthyosis in vitro
McGeoghan FT, Derwin P, Caley M, Donaldson MJ, O'toole E
 
01-01-2015
Loss of keratinocyte type VII collagen induces pro-carcinogenic transcriptomic pathways
Marsh S, Martins V, Caley M, Barnes M, Donaldson MJ, O'toole E
 
01-01-2015
Skin type VII collagen acts as a tumour suppressor by regulating TGFβ and angiogenesis
Martins V, Caley M, Moore K, Szentpetery Z, Marsh S, Murrell DF, Kaehaeri V, McGrath J et al.
 
01-01-2015

2014

Pachyonychia congenita cornered: report on the 11th Annual International Pachyonychia Congenita Consortium Meeting.
O'Toole EA, Kaspar RL, Sprecher E, Schwartz ME
Br J Dermatol vol. 171 (5), 974-977.  
01-11-2014
Exoming into rare skin disease: EGFR deficiency.
Brooke MA, O'Toole EA
J Invest Dermatol vol. 134 (10), 2486-2488.  
01-10-2014
The receptor tyrosine kinase Axl regulates cell-cell adhesion and stemness in cutaneous squamous cell carcinoma.
Cichoń MA, Szentpetery Z, Caley MP, Papadakis ES, Mackenzie IC, Brennan CH, O'Toole EA
Oncogene vol. 33 (32), 4185-4192.  
07-08-2014
iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.
Brooke MA, Etheridge SL, Kaplan N, O'Toole EA, Marches O, Getsios S
Hum Mol Genet vol. 23 (15), 4064-4076.  
01-08-2014
Type VII collagen and squamous cell carcinoma.
O'Toole EA
Br J Dermatol vol. 170 (6) 
01-06-2014
PWE-142 Is Liver Disease Overlooked In Patients With Psoriasis?
Ooi J, Chinthapalli S, O'Toole E
Gut vol. 63 Suppl 1 
01-06-2014
Desmoglein 3 promotes cancer cell migration and invasion by regulating activator protein 1 and protein kinase C-dependent-Ezrin activation.
Brown L, Waseem A, Cruz IN, Szary J, Gunic E, Mannan T, Unadkat M, Yang M et al.
Oncogene vol. 33 (18), 2363-2374.  
01-05-2014
Use of a fibrin-based system for enhancing angiogenesis and modulating inflammation in the treatment of hyperglycemic wounds.
Kulkarni M, O'Loughlin A, Vazquez R, Rooney P, Greiser U, O'Toole E, O'Brien T
Biomaterials vol. 35 (6), 2001-2010.  
01-02-2014
RNA-seq analysis of host and viral gene expression highlights interaction between varicella zoster virus and keratinocyte differentiation.
Jones M, Dry IR, Frampton D, Singh M, Kanda RK, Yee MB, Kellam P, Hollinshead M
Plos Pathog vol. 10 (1) 
01-01-2014
Recent advances in the genetics and management of harlequin ichthyosis.
Ahmed H, O'Toole EA
Pediatr Dermatol vol. 31 (5), 539-546.  
01-01-2014
Diverse roles for laminin-332 subunits in squamous cell carcinoma
Caley M, Martins V, Moore K, Marshall J, O'Toole E
 
01-01-2014
Global transcriptomic changes in primary keratinocytes with loss of basement membrane genes
Marsh S, Martins V, Caley M, Barnes M, Donaldson M, O'Toole E
 
01-01-2014
TREATMENT OF SCC WITH FLIGHTLESS NEUTRALIZING ANTIBODY BLOCKS CELL INVASION AND REDUCES TUMOR GROWTH IN MICE
Kopecki Z, Yang G, Jackson J, Melville E, Martin V, Matthew C, Proby C, Cowin A
Wound Repair and Regeneration vol. 22 (2), A49-A49.  
01-01-2014
Ichthyosis with striate keratoderma caused by a compound heterozygous mutation in ichthyin/NIPAL4
Sommerlad M, Scott C, Harwood C, Kelsell D, O'Toole E
 
01-01-2014
Peeling the surface of cystatin A defects
Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA
 
01-01-2014
Phospholipase C beta4 regulates invasion and proliferation in cutaneous SCC in vivo
Ruban EL, Balogun MA, Martins V, Caley M, Raimondi C, O'toole E, Falasca M
 
01-01-2014
Diverse roles for laminin 332 subunits in squamous cell carcinoma
Caley M, Martins V, Moore K, Marshall J, O'toole E
 
01-01-2014
RNA-Seqing the skin basement membrane
Marsh S, Martins V, Caley M, Barnes M, Donaldson M, O'toole E
 
01-01-2014
Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads with milia caused by loss-of-function mutations in calpastatin
Lin Z, Nitoiu D, Scott C, Zhao J, Plagnol V, O'toole E
 
01-01-2014
The molecular genetic analysis of the expanding pachyonychia congenita case collection
Wilson NJ, O'Toole EA, Milstone LM, Shepherd AA, Al-Asadi E, McLean WHI
British Journal of Dermatology vol. 171 (2), 343-355.  
01-01-2014
Cytoskeletal protein Flii is elevated in human cSCCs and overexpression of Flii in mice leads to higher incidence and severity of tumour formation
Kopecki Z, Yang G, Jackson J, Melville E, Martin V, Caley M, Proby C, Pouniotis D et al.
 
01-01-2014
Analysis of the Hedgehog signalling pathway in periocular sebaceous gland carcinoma
Bladen J, Thaung C, Beaconsfield M, O'Toole E, Philpott M
 
01-01-2014

2013

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJD, Wilson NJ, McLean WHI, Munro CS et al.
Am J Hum Genet vol. 93 (2), 330-335.  
08-08-2013
Matrix metalloproteinases and epidermal wound repair.
Martins VL, Caley M, O'Toole EA
Cell Tissue Res vol. 351 (2), 255-268.  
01-02-2013
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.
Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D et al.
J Invest Dermatol vol. 133 (2), 573-576.  
01-02-2013
The molecular genetic analysis of the expanding pachyonychia congenita case collection
Wilson NJ, O’Toole E, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, Sprecher E
Journal of Dermatological Science, Elsevier vol. 69 (2) 
01-02-2013
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases
Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D et al.
Journal of Investigative Dermatology vol. 133 (2), 573-576.  
01-01-2013
Regulation of normal epidermal homeostasis by the basement membrane
Marsh ST, Martins VL, Donaldson M, Braun K
 
01-01-2013
Phospholipase C-beta 4 regulates proliferation and invasion in cutaneous SCC
Ruban EL, Martins VL, Caley M, Raimondi C, Falasca M, O'Toole EA
 
01-01-2013
Diverse roles for laminin 332 subunits in squamous cell carcinoma
Caley MP, Martins V, Moore K, Marshall JF, O'Toole EA
 
01-01-2013
Aquaporin 5 (AQP5), a water channel protein, is mutated in autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma
Blaydon DC, Lind L, Plagnol V, Linton KJ, South AP, Leigh IM, O'Toole EA, Lundstrom A et al.
 
01-01-2013
Transcriptome profiling identifies novel functions of acitretin in human epidermis
Marsh ST, Caley MP, Kwan A, O'Toole EA, Donaldson M
 
01-01-2013
The receptor tyrosine kinase, Axl, as a therapeutic target in malignant melanoma
Szentpetery Z, Lovat PE, Bergamaschi D, O'Toole EA
 
01-01-2013
Loss of type VII collagen in cutaneous SCC increases angiogenesis
Martins VL, Caley MP, Moore K, Szentpetery Z, Murrell DF, Kim MH, McGrath JA, Cerio R et al.
 
01-01-2013

2012

Connexins in epidermal homeostasis and skin disease
Scott CA, Tattersall D, O'Toole EA
Biochimica Et Biophysica Acta Biomembranes vol. 1818 (8), 1952-1961.  
01-08-2012
Non-junctional human desmoglein 3 acts as an upstream regulator of Src in E-cadherin adhesion, a pathway possibly involved in the pathogenesis of pemphigus vulgaris.
Tsang SM, Brown L, Lin K, Liu L, Piper K, O'Toole EA, Grose R, Hart IR et al.
J Pathol vol. 227 (1), 81-93.  
01-05-2012
Phospholipase C signalling in cutaneous squamous cell carcinoma
Ruban EL, Martins VL, O'Toole EA
 
01-01-2012
Loss of type VII collagen in squamous cell carcinoma increases angiogenesis in vitro and in vivo
Martins V, Caley M, Moore K, Chen M, Marshall J, O'Toole E
 
01-01-2012
The role of the basement membrane in normal epidermal homeostasis
Marsh S, Martins V, Braun K, Donaldson M
 
01-01-2012
Next-generation sequencing in genetic diagnosis of skin disease
Scott C, Bland P, Plagnol V, Nitoiu D, Poon D, O'Toole E
 
01-01-2012
The role of the basement membrane in stem cell maintenance and epidermal homeostasis
Marsh ST, Martins V, Braun K, Donaldson M
 
01-01-2012
Macrocephaly: Capillary malformation with the neuroradiologic features of Sturge-Weber syndrome: A syndrome overlap?
Tull T, Chu A, O'Toole E, Teixeira F, Schmid K
 
01-01-2012
Loss of keratinocyte type VII collagen in SCC increases TGF-beta signalling and angiogenesis
Martins V, Caley M, Moore K, Murrell DF, McGrath JA, Chen M, Marshall JF, O'Toole EA
 
01-01-2012
Desmoglein 3 regulates cancer cell migration through Protein Kinase C dependent-ezrin activation
Brown LE, Gunic E, Unadkat M, Mannan T, Tsang S, Ahmed W, Valderrama F, O'Toole EA et al.
 
01-01-2012
The receptor tyrosine kinase Axl regulates intercellular adhesion, epithelial-mesenchymal transition and stemness in cutaneous squamous cell carcinoma
Szentpetery Z, Cichon M, Caley M, O'Toole E
 
01-01-2012
Keratin 15 and VZV replication in skin
Singh M, Caley M, Jones M, Breuer J, O'Toole E
 
01-01-2012
Fibrin mediated proangiogenic and secretory control gene therapy for compromised wound healing
Kulkarni M, O'Loughlin A, Vazquez-Martinez R, Mashayekhi K, Greiser U, O'Toole E, Pandit A
Journal of Tissue Engineering and Regenerative Medicine vol. 6, 291-291.  
01-01-2012
Desmoglein 3 Regulates Cancer Cell Migration Through PKC Dependent-ezrin Activation
Wan H, Brown L, Gunic E, Mannan T, Tsang S, Valderrama F, O'Toole E
 
01-01-2012

2011

Spatiotemporally controlled proangiogenic and secretory control therapy for compromised wound healing
Kulkarni M, O'loughlin A, Vazquez R, Mashayekhi K, Greiser U, O'toole EA
 
01-12-2011
Inflammatory skin and bowel disease linked to ADAM17 deletion.
Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F et al.
N Engl J Med vol. 365 (16), 1502-1508.  
20-10-2011
Phospholipase C signalling in cutaneous squamous cell carcinoma
Ruban E, Martins V, Falasca M
 
01-09-2011
The role of the basement membrane in normal epidermal homeostasis
Marsh S, Martins V, O'Toole E
 
01-09-2011
Need for transition in dermatology: a study from a London teaching hospital
Dewan P, Robinson J, Paige DG
 
01-07-2011
Recessive epidermolytic palmoplantar keratoderma caused by a keratin 1 mutation
Dewan P, Terron-Kwiatkowski A, Rajpopat S, McGrath JA, O'Toole EA
 
01-07-2011
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N et al.
Arch Dermatol vol. 147 (6), 681-686.  
01-06-2011
Collodion Baby
O'Toole EA, Kelsell DP
In Harper S Textbook of Pediatric Dermatology Third Edition 1-4.  
24-05-2011
Harlequin Ichthyosis
O'Toole EA, Kelsell DP
In Harper S Textbook of Pediatric Dermatology Third Edition 1-6.  
24-05-2011
Acute sun damage and photoprotective responses in whales.
Martinez-Levasseur LM, Gendron D, Knell RJ, O'Toole EA, Singh M
Proc Biol Sci vol. 278 (1711), 1581-1586.  
22-05-2011
Axl plays a role in cell adhesion and 'stemness' in cutaneous SCC
Cichon MA, Mackenzie IC
 
11-04-2011
Loss of type VII collagen in SCC leads to increased invasion and TGF-beta signalling in vivo
Martins VL, Moore K, Chen M, Marshall J, O'Toole EA
 
11-04-2011
Recessive epidermolytic palmoplantar keratoderma caused by a keratin 1 mutation
Dewan P, Terron-Kwiatkowski A, Rajpopat S
 
11-04-2011
Phospholipase C signalling in cutaneous squamous cell carcinoma
Ruban EL, Martins VL, Falasca M
 
11-04-2011
An unusual case of vulval papulonecrotic tuberculid.
Wong S, Rizvi H, Cerio R
Clin Exp Dermatol vol. 36 (3), 277-280.  
01-04-2011
Loss of type VII collagen in squamous cell carcinoma leads to increased invasion and TGF-beta signalling in vivo
Martins V, Moore K, Chen M, Marshall J, O'Toole EA
 
01-04-2011
Platelike osteoma cutis.
Talsania N, Jolliffe V
J Am Acad Dermatol vol. 64 (3), 613-615.  
01-03-2011
A multicentre randomised controlled trial and economic evaluation of ion-exchange water softeners for the treatment of eczema in children: the Softened Water Eczema Trial (SWET)
Thomas KS, Koller K, Dean T, O'Leary CJ, Sach TH, Frost A, Pallett I, Crook AM et al.
Health Technology Assessment, National Institute For Health and Care Research vol. 15 (8), 1-156.  
01-02-2011
Connexins in epidermal homeostasis and skin disease
Scott CA, Tattersall D, Kelsell DP
Biochimica Et Biophysica Acta - Biomembranes 
01-01-2011
Acute sun damage and photoprotective responses in whales
Martinez-Levasseur LM, Gendron D, Singh M
Proceedings of The Royal Society B vol. 278 (1711), 1581-1586.  
01-01-2011
Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.
Scott CA, O'Toole EA, Mohungoo MJ, Messenger A
Clin Exp Dermatol vol. 36 (1), 88-90.  
01-01-2011

2010

The role of the receptor tyrosine kinase Axl in intercellular adhesion and signalling in cutaneous squamous cell carcinoma
Cichon M, Mackenzie I
 
01-09-2010
Loss of type VII collagen in cutaneous SCC increases cell invasion through TGF-beta signalling
Martins V, Chen M, O'Toole E
 
01-09-2010
Phospholipase C signalling in cutaneous squamous cell carcinoma
Ruban E, Martins V, Falasca M
 
01-09-2010
Molecular Biology
O'Toole EA
In Rook S Textbook of Dermatology Eighth Edition 259-280.  
06-05-2010
Wound Healing
O'Toole EA
In Rook S Textbook of Dermatology Eighth Edition 391-417.  
06-05-2010
Harlequin ichthyosis: a review of 50 cases and update of ABCA12 mutation analysis
Rajpopat S, O'Toole E
Archives of Disease in Childhood, Bmj vol. 95 (Suppl 1), a14-a14.  
01-04-2010
Varicella-zoster replication and its association with keratin 15 expression and Wnt signalling
Singh M, Breuer J, Heseltine R, Cerio R, Millar J, Philpott MP, O'Toole EA
 
01-04-2010
The role of the receptor tyrosine kinase Axl in intercellular adhesion and signalling in cancer
Cichon MA, Mackenzie IC
 
01-04-2010
Loss of ABCA12 leads to dysregulated expression of the nuclear hormone receptor pathway molecules RXR-alpha, PPAR-delta and the lipid transporter ABCA1
Rajpopat S, Poon DS, O'Toole EA
 
01-04-2010
Inhibition of the transforming growth factor-beta pathway decreases cell movement in squamous cell carcinoma cells with loss of type VII collagen
Martins VL, Chen M, Purdie KJ
 
01-04-2010
The role of the receptor tyrosine kinase Axl in cell-cell adhesion and signaling in cancer
Cichon MA, Mackenzie IC
 
01-04-2010
Bullous pemphigoid of childhood: a rare disease with diagnostic and management challenges
Majmudar V, Herath D, O'Toole EA
Clin Exp Dermatol vol. 35 (2), 213-214.  
01-03-2010
Keratin K6c Mutations Cause Focal Palmoplantar Keratoderma
Wilson NJ, Messenger AG, Leachman SA, Lane EB
J Invest Dermatol vol. 130 (2), 425-429.  
01-02-2010
Wound Healing
O'Toole EA, Mellerio JE
In Rook S Textbook of Dermatology Volume 1 Eighth Edition 14.1-14.27.  
01-01-2010
Molecular Biology
O'Toole EA
In Rook S Textbook of Dermatology Volume 1 Eighth Edition 11.1-11.22.  
01-01-2010
Understanding the Pathogenesis of Recessive Dystrophic Epidermolysis Bullosa Squamous Cell Carcinoma
South AP, O'Toole EA
Dermatol Clin vol. 28 (1), 171-+.  
01-01-2010
Axl Promotes Cutaneous Squamous Cell Carcinoma Survival Through Negative Regulation of Pro-Apoptotic Bcl-2 Family Members
Papadakis ES, Cichon M, Vyas JJ, Patel N, Ghali L, Cerio R
Journal of Investigative Dermatology, Nature Publishing Group vol. 131, 509-517.  
01-01-2010

2009

Severe hypersensitivity reaction to minocycline in association with lymphomatoid papulosis.
Talsania N, O'Toole EA
Clin Exp Dermatol vol. 34 (7), e397-e398.  
01-10-2009
A role for the receptor tyrosine kinase Axl in regulating NF-kappa B activity in cutaneous squamous cell carcinomas
Papadakis ES, O'Toole EA
 
01-09-2009
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of type VII collagen
Martins VL, Chen M, Purdie K, McGrath JA
 
01-09-2009
Harlequin ichthyosis: prenatal diagnosis and a review of the clinical outcome of survivors
Rajpopat S, O'Toole EA, Kelsell DP
 
01-09-2009
The role of the receptor tyrosine kinase, Axl, in intercellular adhesion and signalling in cutaneous squamous cell carcinoma
Cichon MA, Papadakis ES, O'Toole EA
 
01-09-2009
A new autosomal dominant pure hair-nail ectodermal dysplasia showing variable expression within a family
Vlachou C, O'Toole EA, Kelsell DP
 
01-07-2009
Localization of varicella-zoster virus reactivation in neuronal and adnexal structures in skin
Singh M, Heseltine R, Millar J, Cerio R, Breuer J
 
01-07-2009
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.
Martins VL, Vyas JJ, Chen M, Purdie K, Mein CA, South AP, Storey A, McGrath JA et al.
J Cell Sci vol. 122 (Pt 11), 1788-1799.  
01-06-2009
Oral administration of the GnRH antagonist acyline, in a GIPET®-enhanced tablet form, acutely suppresses serum testosterone in normal men: single-dose pharmacokinetics and pharmacodynamics
Amory JK, Leonard TW, Page ST, McKenna MJ, Bremner WJ
Cancer Chemotherapy and Pharmacology, Springer Nature vol. 64 (3) 
29-05-2009
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population.
Sinclair C, O'Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, Lench N, Stevens HP et al.
Br J Dermatol vol. 160 (5), 1113-1115.  
01-05-2009
The role of the receptor tyrosine kinase, Axl, intercellular adhesion and signalling in cancer
Cichon MA, MacKenzie IC
 
01-04-2009
Mechanisms of increased invasion of cutaneous squamous cell carcinoma cells with loss of type VII collagen
Martins VL, Vyas JJ, Chen M, Purdie KJ, South AP, O'Toole EA
 
01-04-2009
Varicella-zoster virus infection in skin shows prominent involvement of adnexal stem cell compartments
Singh M, Breuer J, Heseltine R, Millar J, Philpott MP, O'Toole EA
 
01-04-2009
The role of type VII collagen in apoptosis in skin
Amarasingham EN, Martins VL, O'Toole EA
 
01-04-2009
Prenatal diagnosis of harlequin ichthyosis, the search for novel mutations and a review of clinical outcome
Rajpopat S, O'Toole EA, Kelsell DP
 
01-04-2009
An antiapoptotic role for the receptor tyrosine kinase Axl in cutaneous squamous cell carcinoma
Papadakis ES, Vyas JJ, Patel N, Ghali L
 
01-04-2009
Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
Thomas AC, Tattersall D, Norgett EE, Kelsell DP
Am J Pathol vol. 174 (3), 970-978.  
01-03-2009

2008

Epidermal basement membrane-mesenchymal interactions
O'Toole E
Exp Dermatol vol. 17 (10), 880-881.  
01-10-2008
Birt-Hogg-Dube syndrome: a systemic syndrome with initial presentation to dermatologists
Majmudar V, O'Toole E, Khorshid M
 
01-07-2008
Loss of type VII collagen in squamous cell carcinoma results in increased invasion with disorganized epithelial differentiation and epithelial-mesenchymal transition
Martins VL, Vyas JJ, Purdie KJ, Chen M, McGrath JA, Storey A
 
01-04-2008
A role for the receptor tyrosine kinase, Axl, in cutaneous squamous cell carcinoma survival
Papadakis ES, Vyas JJ, Storey A
 
01-04-2008
Varicella zoster virus colocalizes within adnexal stem cell compartments of skin
Singh M, Breuer J, Cerio R, Millar J, Philpott MP, O'Toole EA
 
01-04-2008
A role for the receptor tyrosine kinase, Axl, in squamous cell carcinoma invasion and survival
Papadakis ES, Vyas JJ, Storey A
 
01-04-2008
Mechanisms of increased invasion of cutaneous squamous cell carcinoma with loss of type VII collagen
Martin VI, Vyas JJ, Chen M, Purdie K, Storey A, O'Toole EA
 
01-04-2008
Genetic and functional mechanisms in harlequin ichthyosis
Kelsell DP, Thomas AC, Tattersall D
 
01-04-2008
Elucidating the role of ABCA12 in harlequin ichthyosis
Tattersall D, Thomas AC, O'Toole EA, Kelsell DP
 
01-04-2008
GLI1 repression of epidermal growth factor receptor extracellular signal-regulated kinase signalling may account for the poor metastatic potential of basal cell carcinoma
Neill GW, Harrison W, Ikram M, Williams T, Bianchi L, Nadendla S, O'Toole EA, Aberger F et al.
 
01-04-2008
GLI1 repression of ERK activity correlates with colony formation and impaired migration in human epidermal keratinocytes.
Neill GW, Harrison WJ, Ikram MS, Williams TDL, Bianchi LS, Nadendla SK, Green JL, Ghali L et al.
Carcinogenesis vol. 29 (4), 738-746.  
01-04-2008
Immunohistochemical study of varicella-zoster virus infection in skin confirms prominent involvement of the follicular epithelium
Singh M, Breuer J, Cerio R, Millar J, Philpott MP, O'Toole EA
 
01-04-2008
Generalized pustular psoriasis and cryptogenic organizing pneumonia.
Webber NK, O'Toole EA
Br J Dermatol vol. 158 (4), 853-854.  
01-04-2008
Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.
Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C et al.
Br J Dermatol vol. 158 (3), 611-613.  
01-03-2008
Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.
Webber N, Paige DG, Rosser E
Pediatr Dermatol vol. 25 (3), 401-402.  
01-01-2008
Hypoxia induces epidermal keratinocyte matrix metalloproteinase-9 secretion via the protein kinase C pathway.
O'Toole EA, van Koningsveld R, Woodley DT
J Cell Physiol vol. 214 (1), 47-55.  
01-01-2008

2007

Attenuation of EGFR-ERK signalling by GLI1 highlights a mechanism to promote the epithelial phenotype and may account for the poor metastatic potential of basal cell carcinoma
Neill W, Harrison WJ, Ikram MS, Williams TDL, Green JL, Ghali L, Frischauf AM, O'Toole EA et al.
 
01-10-2007
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Pourreyron C, Cox G, Mao X, Baksh N, Wong T, Fassihi H, Arita K, O'Toole EA et al.
J Invest Dermatol vol. 127 (10), 2438-2444.  
01-10-2007
A role for the receptor tyrosine kinase, Axl, in cutaneous squamous cell carcinoma survival
Papadakis E, Vyas JJ, O'Toole EA
 
01-10-2007
A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro.
Man YKS, Trolove C, Tattersall D, Thomas AC, Papakonstantinopoulou A, Patel D, Scott C, Chong J
J Membr Biol vol. 218 (1-3), 29-37.  
01-08-2007
Childhood bullous pemphigoid: a rare disease with management challenges
Majmudar V, Herath D, O'Toole EA
 
01-07-2007
Does the presence or absence of type VII collagen expression in individuals with recessive dystrophic epidermolysis bullosa have implications for the risk of developing squamous cell carcinoma?
Cox GA, Pourreyron C, Volz A, O'Toole EA, Bruckner-Tuderman L, Salas-Alanis JC, Leigh IM
 
01-07-2007
The effect of pachyonychia congenita type 1 mutations in keratinocyte adhesion and desmosome formation and associated signal transduction
van Koningsveld R, Fitchett CJ, Rugg EL, Kelsell DP
 
01-05-2007
The role of type VII collagen in squamous cell carcinoma invasion in recessive dystrophic epidermolysis bullosa
Martins VL, Vyas JJ, Chen M, McGrath JA
 
01-05-2007
Stem/progenitor cell-like properties of desmoglein 3dim cells in primary and immortalized keratinocyte lines.
Wan H, Yuan M, Simpson C, Allen K, Gavins FNE, Ikram MS, Basu S, Baksh N et al.
Stem Cells vol. 25 (5), 1286-1297.  
01-05-2007
A comprehensive survey of 28 candidate genes for atopic dermatitis using a hapTAG approach in a unique Bangladeshi population of East London
Sinclair C, O'Toole EA, Paige D, Mein CA, Kelsell DP
 
01-05-2007
Knock-down of type VII collagen in squamous cell carcinoma increases migration and invasion with loss of differentiation
Martins VL, Vyas JJ, Purdie KJ, Storey A, South AP
 
01-04-2007
Stem/progenitor cell-like properties of Desmoglein 3dim cells in primary and immortalized keratinocyte lines
Wan H, Yuan M, Simpson C, Allen K, Gavins FN, Ikram MS, Basu S, Baksh N et al.
 
01-04-2007

2006

ABCA12 is the major harlequin ichthyosis gene.
Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E et al.
J Invest Dermatol vol. 126 (11), 2408-2413.  
01-11-2006
Fatal erosive lichen planus.
Sheth N, Bull R, Cerio R, Harwood C, O'Toole E, Paige D, Goldsmith P
Br J Dermatol vol. 155 (5), 1075-1076.  
01-11-2006
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh M-T, Rüschendorf F, Sinclair C, Hopsu-Havu VK et al.
Nat Genet vol. 38 (11), 1245-1247.  
01-11-2006
Patients with recessive dystrophic epidermolysis bullosa develop squamous cell carcinoma regardless of type VII collagen NC1 domain expression.
Pourreyron C, Jones C, Volz A, O'Toole EA, Chen M, Hart IR, Bruckner-Tuderman L, Salis-Alanis JC
 
01-08-2006
Functional effects of pachyonychia congenita type I mutations on keratinocyte migration and the actin cytoskeleton
Van Koningsveld R, Fitchett CJ
 
01-08-2006
Connexins have isoform and tissue specific functions and are critical for skin differentiation, migration, wound healing and bacterial invasion
Man S, Unsworth H, Aasen T, Trolove C, Tattersall D, Thomas A, O'Toole E
 
01-08-2006
R-spondin 4 (RSPO4), a novel secreted protein implicated in Wnt signalling, is mutated in inherited anonychia
Blaydon DC, Ishii Y, O'Toole EA, Teh MT, Hopsu-Havu VK, Moss C, Ruschendorf F, Wajid M et al.
 
01-08-2006
Type VII collagen regulates squamous cell carcinoma cell migration and proteinase expression
Martins VL, Vyas JJ, Purdie KJ, Chen M
 
01-08-2006
Signalling mechanisms in squamous cell carcinoma migration and invasion
Vyas JJ, Green J, Proby CM
 
01-08-2006
Filaggrin mutation is not a genetic risk factor for atopic dermatitis in the Bangladeshi population
Sinclair C, O'Toole E, Leigh I, Paige D, Elbashir H, Stevens H, Mein C
 
01-08-2006
Axl expression in keratinocytes promotes invasion with degradation of the basement membrane
Vyas JJ, Ahmed W, Martins VLC, O'Toole EA
 
01-07-2006
Functional effects of pachyonychia congenita type I mutations on keratinocyte migration
Fitchett CJ, Van Koningsveld R, Rugg EL
 
01-07-2006
Signalling mechanisms of squamous cell carcinoma in an in vitro model of squamous cell carcinogenesis
Vyas JJ, Proby CM
 
01-07-2006
Genetic and functional mechanisms of ABCA12-associated harlequin ichthyosis
Thomas AC, Norgett EE, Cullup T, Kelsell DP
 
01-07-2006
Multiple café au lait spots and hypopigmented lesions : the first sign of microcephalic osteodysplastic primordial dwarfism type 2 (MIM210720)
Webber NK, O’toole EA
Annales De Dermatologie Et De VéNéRéOlogie, Elsevier vol. 133 (6-7) 
01-06-2006
Séance conjointe entre la Société Française de Dermatologie Pédiatrique, la Société Française de Dermatologie et la British Society of Paediatric Dermatology
Annales De Dermatologie Et De VéNéRéOlogie, Elsevier vol. 133 (6-7) 
01-06-2006
Two siblings with harlequin ichthyosis, clinical and molecular findings
Mak RKH, Paige D, Leigh IM, O’toole EA
Annales De Dermatologie Et De VéNéRéOlogie, Elsevier vol. 133 (6-7) 
01-06-2006
Overexpression of the Axl tyrosine kinase receptor in cutaneous SCC-derived cell lines and tumours.
Green J, Ikram M, Vyas J, Patel N, Ghali L, Leigh IM
Br J Cancer vol. 94 (10), 1446-1451.  
22-05-2006
Harlequin ichthyosis: A new understanding
Rajpopat S, O'Tooele E
 
01-03-2006

2005

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
Common JEA, O'Toole EA, Leigh IM, Thomas A, Griffiths WAD, Venning V, Grabczynska S, Peris Z
J Invest Dermatol vol. 125 (5), 920-927.  
01-11-2005
Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830).
Common JEA, Bitner-Glindzicz M, O'Toole EA, Barnes MR, Jenkins L, Forge A, Kelsell DP
Clin Exp Dermatol vol. 30 (6), 688-693.  
01-11-2005
Clinical and pathological features of pachyonychia congenita.
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJD, McLean WHI, Lunny DP, van Steensel MAM
 
01-10-2005
Ultra-deformable liposomes containing bleomycin: in vitro stability and toxicity on human cutaneous keratinocyte cell lines.
Lau KG, Hattori Y, Chopra S, O'Toole EA
Int J Pharm vol. 300 (1-2), 4-12.  
26-08-2005
Unusual histopathology in cutaneous sarcoidosis mimicking late secondary syphilis
Thein M, Khorshid SM, Cerio R
 
01-07-2005
Clinical and molecular features of Harlequin ichthyosis
Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Kennedy CT et al.
 
01-07-2005
Unusual distribution of punctate dysplastic keratoses and skin cancers in sunbed users: a report of three cases.
Ismail F, O'Toole EA, McGregor JM
Br J Dermatol vol. 152 (6), 1374-1376.  
01-06-2005
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
Kelsell DP, Norgett EE, Unsworth H, Teh M-T, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA et al.
Am J Hum Genet vol. 76 (5), 794-803.  
01-05-2005
Increased Axl expression in invasive squamous cell carcinoma
Patel N, Vyas J, Ghali L, Green J, Storey A
 
01-04-2005
LEKTI is required for skin barrier integrity and acts via the PAR-2 signalling pathway
Ong C, Di WL, Green A, Harper J
 
01-04-2005
Migration and invasion mechanisms in an in vitro model of squamous cell carcinogenesis
Vyas JJ, Ahmed W, Jayazeri M, Baksh N, Marshall JF, Proby CM, Storey A, O'Toole EA
 
01-04-2005
Gli1 co-operates with EGFR signalling to induce a neuronal phenotype in keratinocytes
Neill GW, Kasper M, Williams T, Ikram M, Ghali L, Green J, Quinn A, Frischauf A et al.
 
01-04-2005
Functional effects of pachyonychia congenita type I mutations on keratinocyte migration and proliferation
Fitchett CJ, Rugg EL, Gilfillan N
 
01-04-2005
Functional effects of pachyonychia congenital type I mutations on keratinocyte motility and proliferation
Fitchett CJ, Rugg EL, Gilfillan N, O'Toole EA
 
01-04-2005
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
Di W-L, Gu Y, Common JEA, Aasen T, Kelsell DP
J Cell Sci vol. 118 (Pt 7), 1505-1514.  
01-04-2005
Evidence for a key role of Connexin 26 in early epidermal differentiation
Common JEA, Thomas AC
 
01-04-2005
Mechanisms of migration and invasion of squamous cell carcinoma in an in vitro model of squamous cell carcinogenesis
Vyas J, Ahmed W, Jayazeri M, Marshall JF, Proby CM, Storey A, O'Toole EA
 
01-04-2005

2004

LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.
Ong C, O'Toole EA, Ghali L, Harper JI
Br J Dermatol vol. 151 (6), 1253-1257.  
01-12-2004
LEKTI, terminal differentiation of keratinocytes and skin barrier formation
Ong C, Di WL, Mazereeuw J, Callard R, O'Toole E
 
01-08-2004
Gli1 co-operates with EGFR-Sre signalling to induce a fibroblastoid phenotype in primary keratinocytes
Neill G, Ikram MS, Green JL, Quinn AG, O'Toole E, Philpott MP
 
01-03-2004
Sunbed related dysplastic keratosis - A report of three cases
Ismail FF, O'Toole EA, McGregor JM
 
01-03-2004
Epithelial-mesenchymal interactions of cylindroma cells
Holland M, Baksh N, Fitchett CJ
 
01-01-2004

2003

Clinical and molecular features of keratitis-ichthyosis-deafness syndrome
Jolliffe VM, O'Toole EA, Common JE, Kelsell DP, Paige DG
 
01-07-2003
Cellular Mechanisms of Mutant Connexins in Skin Disease and Hearing Loss
Common J, Di W-L, Davies D, Galvin H, Kelsell D
Cell Communication & Adhesion, Taylor & Francis vol. 10 (4), 347-351.  
01-07-2003
Migration and proteolysis in a cell culture model of squamous epidermal carcinogenesis
O'Toole E, Lyons I
 
01-04-2003
Granulomatous mycosis fungoides presenting as an acquired ichthyosis.
Eisman S, O'Toole EA, Jones A
Clin Exp Dermatol vol. 28 (2), 174-176.  
01-03-2003
Cellular mechanisms of mutant connexins in skin disease and hearing loss.
Common JEA, Di W-L, Galvin H, Leigh IM, O'Toole EA
 
01-01-2003

2002

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
Common JEA, Becker D, Di W-L, Leigh IM
Biochem Biophys Res Commun vol. 298 (5), 651-656.  
15-11-2002
A case of childhood sarcoidosis.
Hunt SJ, O'toole E, Philips W, Hardman C
Clin Exp Dermatol vol. 27 (6), 448-450.  
01-09-2002
The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen.
Chen M, O'Toole EA, Sanghavi J, Mahmud N, Kelleher D, Fairley JA
J Invest Dermatol vol. 118 (6), 1059-1064.  
01-06-2002
Induction of keratinocyte IL-8 expression and secretion by IgG autoantibodies as a novel mechanism of epidermal neutrophil recruitment in a pemphigus variant
O’Toole EA, Mak LL, Guitart J, Woodley DT, Hashimoto T
Clinical & Experimental Immunology, Oxford University Press (Oup) vol. 119 (1), 217-224.  
05-04-2002
Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti.
Jean-Baptiste S, O'Toole EA, Guitart J, Chan LS
Clin Exp Immunol vol. 127 (3), 470-478.  
01-03-2002
Phosphorylation of focal adhesion kinase (pp125(FAK)) is increased in human keratinocytes induced to migrate by extracellular matrices.
O'TOOLE EA, Woodley DT
Journal of Cellular Physiology vol. 188 (1), 24-32.  
01-01-2002
Case 1. Systematic lupus erythematosus (SLE).
Jones J, O'Toole EA, Whittaker SJ
Clin Exp Dermatol vol. 27 (1), 78-79.  
01-01-2002

2001

The inhibition of cutaneous T cell apoptosis may prevent resolution of inflammation in atopic eczema
Orteu CH, O'toole E, Sabin C, Salmon M
Clinical & Experimental Immunology, Oxford University Press (Oup) vol. 122 (2), 150-156.  
24-12-2001
Heterogeneity of genetic mutations in erythrokeratodermas
O'Toole EA, Di WL, Common J
J Invest Dermatol vol. 117 (3), 797-797.  
01-09-2001
Extracellular matrix and keratinocyte migration.
O'Toole EA
Clin Exp Dermatol vol. 26 (6), 525-530.  
01-09-2001
Phosphorylation of focal adhesion kinase (pp125(FAK)) is increased in human keratinocytes induced to migrate by extracellular matrices.
Yurko MA, O'Toole EA, Woodley DT
J Cell Physiol vol. 188 (1), 24-32.  
01-07-2001
Zosteriform Kaposi's sarcoma.
Eisman S, O'Toole EA, Collis C
Clin Exp Dermatol vol. 26 (5), 402-404.  
01-07-2001

2000

Development and Characterization of A Recombinant Truncated Type VII Collagen “Minigene” IMPLICATION FOR GENE THERAPY OF DYSTROPHIC EPIDERMOLYSIS BULLOSA*
Chen M, O'Toole EA, Muellenhoff M, Woodley DT
Journal of Biological Chemistry, Elsevier vol. 275 (32), 24429-24435.  
01-08-2000
Molecular cloning of canine bullous pemphigoid antigen 2 cDNA and immunomapping of NC16A domain by canine bullous pemphigoid autoantibodies1This paper was presented in part, as an abstract, at the Annual Meeting of the Society for Investigative Dermatology, April 23–27, 1997, Washington, DC.1
Xu L, O’Toole EA, Olivry T, Peng J, Chen M
Biochimica Et Biophysica Acta, Elsevier vol. 1500 (1), 97-107.  
01-01-2000

1999

Thalidomide Increases Human Keratinocyte Migration and Proliferation
O’Toole EA, Palicharla P, Woodley DT
Journal of Investigative Dermatology, Elsevier vol. 113 (5), 720-724.  
01-11-1999
α2β1 Integrin Mediates Dermal Fibroblast Attachment to Type VII Collagen via a 158-Amino-Acid Segment of the NC1 Domain
Chen M, Li Y-Y, Woodley DT
Experimental Cell Research, Elsevier vol. 249 (2), 231-239.  
01-06-1999
Jessner's lymphocytic infiltrate and probable discoid lupus erythematosus occurring separately in two sisters
O'Toole, Powell, Barnes
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 24 (2), 90-93.  
01-03-1999
NC1 Domain of Type VII Collagen Binds to the β3 Chain of Laminin 5 Via a Unique Subdomain Within the Fibronectin-Like Repeats
Chen M, Jones JCR, Woodley DT
Journal of Investigative Dermatology, Elsevier vol. 112 (2), 177-183.  
01-02-1999
Necrobiosis lipoidica: only a minority of patients have diabetes mellitus
O'TOOLE EA, KENNEDY U, YOUNG MM, ROGERS S
British Journal of Dermatology, Oxford University Press (Oup) vol. 140 (2), 283-286.  
01-02-1999

1998

Molecular cloning and characterization of a cDNA encoding canine type VII collagen non-collagenous (NC1) domain, the target antigen of autoimmune disease epidermolysis bullosa acquisita (EBA)
Xu L, Chen M, Peng J, O’Toole EA, Woodley DT
Biochimica Et Biophysica Acta, Elsevier vol. 1408 (1), 25-34.  
01-10-1998
Development and characterization of a recombinant truncated type VII collagen “minigene”: Implications for gene therapy of dystrophic epidermolysis bullosa
Chen M, O'Toole EA, Li Y-Y
Journal of Dermatological Science, Elsevier vol. 16 
01-03-1998
Type I collagen induction of interleukin-8 in migrating keratinocytes is mediated by the β1 integrin receptor
O'Toole EA, Gordon KB, Khanna VJ, Kondo S
Journal of Dermatological Science, Elsevier vol. 16 
01-03-1998
Sialidase gene transfection modulates keratinocyte behavior on a fibronectin matrix
Makkar H-P, Meuillet EJ, O'Toole E, George D
Journal of Dermatological Science, Elsevier vol. 16 
01-03-1998
NC1 domain of type VII (anchoring fibril) collagen binds to the β3 chain of laminin 5 via a unique subdomain within the fibronectin-like repeats
Chen M, Marinkovich MP, Jones JCR, O'Toole EA, Li Y-Y
Journal of Dermatological Science, Elsevier vol. 16 
01-03-1998
α2β1 integrin mediates cell attachment to a non-RGD site between second and third fibronectin type III repeat of the NC1 domain of type VII collagen
Chen M, O'Toole EA
Journal of Dermatological Science, Elsevier vol. 16 
01-03-1998
Activation of interleukin-8 secretion in pemphigus herpetiformis epidermis by anti-desmoglein 1 IgG autoantibodies
O'Toole EA, Mak LJ, Guitart J, Hashimoto T, Amagai M
Journal of Dermatological Science, Elsevier vol. 16 
01-03-1998
Regulation of keratinocyte motility and collagenase secretion by mitogen-activated protein kinase
O'Toole EA, Nasca MR, Woodley DT
Journal of Dermatological Science, Elsevier vol. 16 
01-03-1998
Integrin α5β1 Expression Is Required for Inhibition of Keratinocyte Migration by Ganglioside GT1b
Sung C-C, O'Toole EA, Lannutti BJ, Hunt J, Woodley DT
Experimental Cell Research, Elsevier vol. 239 (2), 311-319.  
01-03-1998
National Scientific Medical meeting. 27-28 March 1998. Abstracts.
 
01-01-1998
Metastatic Dissemination of Human Ovarian Epithelial Carcinoma Is Promoted by α2β1-Integrin-Mediated Interaction with Type I Collagen
Fishman DA, Kearns A, Chilukuri K, Bafetti LM, O’Toole EA, Stack MS
Invasion and Metastasis, Karger Publishers vol. 18 (1), 15-26.  
01-01-1998

1997

Thalidomide increases keratinocyte proliferation and chemokine secretion in vitro
O'Toole EA, Nasca MR, Palicharla P
Clinical Pharmacology and Therapeutics vol. 61 (2) 
01-12-1997
Hypoxia increases human keratinocyte motility on connective tissue.
O'Toole EA, Marinkovich MP, Peavey CL, Amieva MR
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 100 (11), 2881-2891.  
01-12-1997
FC004 Type VII (anchoring fibril) collagen exists in human intestine and serves as an antigenic target in patients with inflammatory bowel disease
Chen M, O'Toole EA, Sanghavi J, Mahmud N, Weir D
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 9 
01-09-1997
FC003 Keratinocytes secrete eotaxin and it is upregulated in bullous pemphigoid lesional epidermis
O'Toole EA, Arami S, Guitart J, MacKay CR, Woodley DT
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 9 
01-09-1997
FC070 Cell motility and hypoxia dramatically increase the secretion of IL-8 by human keratinocytes
O'Toole EA, Khanna VJ, Sauder DN
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 9 
01-09-1997
P340 Thalidomide increases epidermal cell proliferation and migration
Nasca MR, O'Toole EA, Palicharla P, West DP, Woodley DT
Journal of The European Academy of Dermatology and Venereology, Wiley vol. 9 
01-09-1997
Disseminated herpes zoster in the elderly
O’Toole EA, Mooney EE, Walsh JB, Sweeney EC
Irish Journal of Medical Science, Springer Nature vol. 166 (3), 141-142.  
01-07-1997
Laminin-5 Inhibits Human Keratinocyte Migration
O'Toole EA, Marinkovich MP, Hoeffler WK
Experimental Cell Research, Elsevier vol. 233 (2), 330-339.  
01-06-1997
Interactions of the Amino-terminal Noncollagenous (NC1) Domain of Type VII Collagen with Extracellular Matrix Components A POTENTIAL ROLE IN EPIDERMAL-DERMAL ADHERENCE IN HUMAN SKIN*
Chen M, Marinkovich MP, Veis A, Cai X, Woodley DT
Journal of Biological Chemistry, Elsevier vol. 272 (23), 14516-14522.  
01-06-1997
Modulation of type VII collagen (anchoring fibril) expression by retinoids in human skin cells
Chen M, Goyal S, Cai X, O'Toole EA
Biochimica Et Biophysica Acta, Elsevier vol. 1351 (3), 333-340.  
01-04-1997
Ultraviolet A Irradiation Upregulates Type VII Collagen Expression in Human Dermal Fibroblasts.
Chen M, Petersen MJ, Cai X-Y
Journal of Investigative Dermatology, Elsevier vol. 108 (2), 125-128.  
01-02-1997
Development of an ELISA for Rapid Detection of Anti-Type VII Collagen Autoantibodies in Epidermolysis Bullosa Acquisita
Chen M, Chan LS, Cai X, O'Toole EA
Journal of Investigative Dermatology, Elsevier vol. 108 (1), 68-72.  
01-01-1997

1996

Extracellular Matrix-Associated Serine Protease Inhibitors (Mr33,000, 31,000, and 27,000) Are Single-Gene Products with Differential Glycosylation: cDNA Cloning of the 33-kDa Inhibitor Reveals Its Identity to Tissue Factor Pathway Inhibitor-2
Rao CN, Reddy P, Liu Y, O'toole E, Reeder D, Foster DC
Archives of Biochemistry and Biophysics, Elsevier vol. 335 (1), 82-92.  
01-11-1996
Hydrogen Peroxide Inhibits Human Keratinocyte Migration
O'TOOLE EA, GOEL M, WOODLEY DT
Dermatologic Surgery, Wolters Kluwer vol. 22 (6), 525-529.  
01-06-1996
Enhanced Modulation of Keratinocyte Motility by Transforming Growth Factor-α (TGF-α) Relative to Epidermal Growth Factor (EGF)
Cha D, O'Brien P, O'Toole EA
Journal of Investigative Dermatology, Elsevier vol. 106 (4), 590-597.  
01-04-1996

1995

Cutis Marmorata Telangiectatica Congenita Associated with a Double Aortic Arch
O'Toole EA, Deasy P, Watson R
Pediatric Dermatology, Wiley vol. 12 (4), 348-350.  
01-12-1995
Subungual melanoma: A relation to direct injury?
O'Toole EA, Stephens R, Young MM, Barnes L
Journal of The American Academy of Dermatology, Elsevier vol. 33 (3), 525-528.  
01-09-1995
Unilateral Beau's Lines in Childhood Reflex Sympathetic Dystrophy
O'Toole EA, Gormally S, Drumm B
Pediatric Dermatology, Wiley vol. 12 (3), 245-247.  
01-09-1995
Cholesterol and lipoprotein (a) levels in psoriasis.
Stinson J, O'Toole E, Cooke T, D'Arcy G, Hall M, Barnes L
Irish Medical Journal vol. 88 (4), 128-129.  
01-01-1995

1994

Annual Jacob Medal Meeting Proceedings of Meeting held 13th May, 1994
Buckley D, Rogers S, O’Connor W, Murphy G, Darby C, O’Moore R, Mulcahy F, Barnes L et al.
Irish Journal of Medical Science, Springer Nature vol. 163 (8), 400-401.  
01-08-1994
Irish association for cancer research
Gannon F, Forde RC, Nester PV, Webb P, McCaffrey J, Fennelly JJ, McCarthy D, Halligan J et al.
Irish Journal of Medical Science, Springer Nature vol. 163 (7), 341-354.  
01-07-1994

A single cell and spatial genomics atlas of human skin fibroblasts in health and disease
Steele L, Admane C, Chakala KP, Foster A, Gopee NH, Koplev S, Mazin P, Olabi B et al.
In Biorxiv 
Reduced Filaggrin expression induces dysregulated intracellular signalling in atopic eczema
Hughes A, Coppock L, Tachie-Menson T, Thomas B, Dewan P, Doykov I, Mills K, O’Toole E et al.
In Biorxiv 
Poised cell circuits in human skin are activated in disease
Reynolds G, Vegh P, Fletcher J, Poyner EFM, Stephenson E, Goh I, Botting RA, Huang N et al.
In Biorxiv 
Proteomic signatures of perioperative oxygen delivery in skin after major surgery
Ackland GL, Bliss E, Bahelil F, Cyrus T, Crescente M, Iqbal S, Paredes LG, del Arroyo AG et al.
In Medrxiv 
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
Storr H, Maharaj A, Andrews A, Rybak A, Elfeky R, Ishida M, Joensuu A, Kantojärvi K et al.
In Research Square 
Loss of cholesterol in Junctional Epidermolysis Bullosa skin identifies a key role for Laminin-332 in actomyosin mediated cholesterol transport
Jones EM, Camera E, Parzymies P, Marsh ST, O’Shaughnessy RF, Aumailley M, McGrath JA, O’Toole EA et al.
In Biorxiv 
A human prenatal skin cell atlas reveals immune cell regulation of skin morphogenesis
Gopee NH, Huang N, Olabi B, Admane C, Botting RA, Foster AR, Torabi F, Winheim E et al.
In Biorxiv 
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M et al.
In Medrxiv