Dr Diana Blaydon

Diana Blaydon

Non-clinical Lecturer

Centre for Cell Biology and Cutaneous Research, Blizard Institute
Queen Mary University of London
www.qmul.ac.uk/blizard/all-staff/profiles/diana-blaydon.html

Research

Skin, Epidermal barrier, Monogenic skin conditions, Cell-cell adhesion, 3D models

Skin Models

Interests

Using patient-derived, mutant keratinocytes in monolayer and 3D organotypic skin models to study molecular mechanisms underlying epidermal barrier function.

Publications

solid heart iconPublications of specific relevance to Predictive in vitro Models

2024

Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Ho M, Nguyen H-N, Van Hoang M, Bui TTT, Vu B-Q, Dinh THT, Vo HTM, Blaydon DC et al.
Human Genomics, Springer Nature vol. 18 (1) 
16-04-2024
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, Blaydon DC
Journal of Investigative Dermatology, Elsevier vol. 144 (9), 2092-2096.  
23-03-2024
Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway
Dulloo I, Tellier M, Levet C, Chikh A, Zhang B, Blaydon DC, Webb CM, Kelsell DP et al.
Molecular Cell, Elsevier vol. 84 (2), 277-292.e9.  
01-01-2024

2023

Investigating iRHOM2-Associated Transcriptional Changes in Tylosis With Esophageal Cancer
Murtough S, Babu D, Webb CM, Picard HLD, McGinty LA, Chao-Chu J, Pink R, Silver AR et al.
Gastro Hep Advances, Elsevier vol. 3 (3), 385-395.  
26-12-2023
Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile
Ustaoglu A, Daudali FA, D’afflitto M, Murtough S, Lee C, Moreno E, Blaydon DC, Kelsell DP et al.
Frontiers in Immunology, Frontiers vol. 14 
30-11-2023

2020

iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility
Chao-Chu J, Murtough S, Zaman N, Pennington DJ, Blaydon DC, Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 141 (4), 722-726.  
17-10-2020

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
Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions
Pigors M, Sarig O, Heinz L, Plagnol V, Fischer F, Mohamad J, Malchin N, Rajpopat S et al.
American Journal of Human Genetics, Elsevier (Cell Press): 6 Month Embargo 
28-07-2016
The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report
Krøigård AB, Hetland LE, Clemmensen O, Blaydon DC, Hertz JM, Bygum A
Bmc Dermatology vol. 16 (1) 
03-06-2016
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

2015

Mutations in SERPINB8 underlie a mild peeling skin phenotype
Pigors M, Heinz L, Plagnol V, Fischer J, Kharfi M, Kelsell D
 
01-01-2015

2014

Defective channels lead to an impaired skin barrier.
Blaydon DC, Kelsell DP
J Cell Sci vol. 127 (Pt 20), 4343-4350.  
15-10-2014

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.
The American Journal of Human Genetics, Elsevier Bv vol. 93 (2), 330-335.  
01-08-2013
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
Rhomboid proteins: A role in keratinocyte proliferation and cancer
Etheridge SL, Brooke MA, Kelsell DP, Blaydon DC
Cell and Tissue Research vol. 351 (2), 301-307.  
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
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
Dysregulated iRHOM2/ADAM17 in Tylosis with oesophageal cancer affects Ephrin- and EGF-family-mediated keratinocyte adhesion and migration
Brooke MA, Etheridge SL, Getsios S
 
01-01-2013

2012

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
Blaydon DC, Etheridge SL, Risk JM, Hennies H-C, Gay LJ, Carroll R, Plagnol V, McRonald FE et al.
Am J Hum Genet vol. 90 (2), 340-346.  
10-02-2012
RHBDF2 mutations affect epidermal growth factor signalling in tylosis with oesophageal cancer
Etheridge S, Blaydon D, Brooke M, South A
 
01-01-2012
A genetic and functional link between ADAM17 and RHBDF2 in tylosis with oesophageal cancer
Brooke M, Etheridge S, Blaydon D
 
01-01-2012
A Genetic and Functional Link Between iRhom2 and ADAM17 in Tylosis with Oesophageal Cancer
Brooke MA, Etheridge SL, Blaydon DC
 
01-01-2012
Rhomboid proteins: a role in keratinocyte proliferation and cancer
Etheridge SL, Brooke MA, Kelsell DP
Cell and Tissue Research, 1-7.  
01-01-2012

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
Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
Blaydon DC, Nitoiu D, Eckl K-M, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S et al.
Am J Hum Genet vol. 89 (4), 564-571.  
07-10-2011
A key role for the protease inhibitor Cystatin A in keratinocyte adhesion
Nitoiu D, Cabral R, Bland P, Zvulunov A, Hennies HC
 
01-09-2011
RHBDF2 mutations in Tylosis with Oesophageal Cancer cause dysregulation of downstream EGF and EphrinB3 signalling
Etheridge S, Blaydon D, Risk J, Hennies HC, Stevens H, Field J, Leigh I, Kelsell D
 
01-09-2011
A homozygous deletion mutation in ADAM17 underlies an autosomal recessive inflammatory skin and bowel disease
Blaydon D, Biancheri P, Di WL, Plagnol V, Cabral R, Brooke M, Martin J, MacDonald T et al.
 
01-09-2011
Genetic and cellular evidence for a key role for a protease inhibitor in desmosomal adhesion
Nitoiu D, Blaydon DC, Cabral R, Bland P
 
11-04-2011
Using next-generation sequencing to identify novel disease genes
Blaydon DC, Walne AJ, Plagnol V, Vulliamy T
 
11-04-2011
Next-generation sequencing identifies a homozygous deletion mutation in an ADAM gene underlying autosomal recessive inflammatory skin and bowel disease.
Kelsell DP, Blaydon DC, Biancheri P, Di W, Plagnol V, Cabral RM
 
01-04-2011
Identification of the underlying cause of autosomal recessive exfoliative ichthyosis reveals a role for a protease inhibitor in cell-cell adhesion
Blaydon DC, Nitoiu D, Cabral RM, Bland P, Zvulunov A
 
01-04-2011

2008

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam J-S, Yoon JK et al.
J Invest Dermatol vol. 128 (4), 867-870.  
01-04-2008

2007

R-spondins in cutaneous biology: Nails and cancer
Blaydon DC, Philpott MP, Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  
15-04-2007
R-spondins in cutaneous biology: nails and cancer.
Blaydon DC, Philpott MP, Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  
15-04-2007
Mutations in R-spondin 4 (RSPO4), a novel secreted protein involved in Wnt signaling, underlie inherited anonychia
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam JS, Yoon JK
 
01-04-2007
Role for WNT16B in human epidermal keratinocyte proliferation and differentiation
Teh MT, Blaydon D, Ghali LR, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP et al.
J Cell Sci vol. 120 (2), 330-339.  
15-01-2007
Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (vol 120, pg 330, 2007)
Teh M-T, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM et al.
Journal of Cell Science vol. 120 (5), 917-917.  
01-01-2007

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 MT, Ruschendorf F, Sinclair C, Hopsu-Havu VK et al.
Nat Genet vol. 38 (11), 1245-1247.  
01-11-2006
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.
 
01-01-2006

2005

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event
Teh MT, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM et al.
Cancer Res vol. 65 (19), 8597-8603.  
01-10-2005
Genome-wide SNP microarray mapping in basal cell carcinomas unveils uniparental dismay as a key somatic event
Blaydon DC, Teh M, Foot NJ, Philpott MP, Harwood C, Proby C, Young BD, Kelsell DP
 
01-01-2005

2003

Missense changes in USH1C in a type 1 Usher patient?
Blaydon DC, Leroy B
 
01-11-2003
The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M
Clin Genet vol. 63 (4), 303-307.  
01-04-2003

Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16
MARUTHAPPU T, CHIKH A, FELL B, DELANEY PJ, BROOKE MA, LEVET C, MONCADA-PAZOS A, ISHIDA-YAMAMOTO A et al.
Nature Communications, Nature Publishing Group: Nature Communications 
Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair
Journal of Investigative Dermatology, Elsevier 
p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response
KELSELL DP, CHIKH A
Nature Communications 
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
In Medrxiv 

Grants

solid heart iconGrants of specific relevance to Predictive in vitro Models
bullet iconDissecting palmoplantar wound healing in health and disease
Diana Blaydon, Emanuel Rognoni and David Kelsell
£188,791 Barts and the London Charity
06-01-2025 - 05-01-2029
bullet iconUnderstanding the early evolution of steatocystoma cyst formation
Edel O'Toole, Mirjana Efremova, Diana Blaydon and Michael Philpott
£467,569 MRC Medical Research Council
10-04-2024 - 09-04-2026
bullet iconTowards an in vitro model for studying Pachyonychia Congenita
Diana Blaydon and David Kelsell
£144,581 Pachyonychia Congenita Project
01-01-2023 - 31-12-2025
bullet iconUnderstanding the pathogenesis of steatocystoma multiplex
Edel O'Toole, Diana Blaydon and Mirjana Efremova
£325,267 LEO Foundation
01-04-2022 - 31-08-2026

bullet iconSwitching of iRhom2 hyperactivity in development of squamous oesophageal cancer
Diana Blaydon and David Kelsell
£143,251 Worldwide Cancer Research
01-06-2023 - 30-09-2025
bullet iconDissecting the molecular mechanisms associated with impaired barrier integrity in the oesophageal ep
Diana Blaydon and David Kelsell
£41,085 Barts and the London Charity
08-11-2021 - 08-05-2023
bullet iconDissecting palmoplantar skin/keratinocytes as a model of stress – a role for AQP5.
Diana Blaydon and David Kelsell
£85,000 British Skin Foundation (BSF)
01-04-2019 - 31-12-2022