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Prof David Kelsell

David Kelsell
Queen Mary University of London
07884 186259

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Research

keratinocyte, keratinisation disorders, cell communication, cardiomyopathy

Interests

Developed 3D epidermal models of disease; human patient cell lines and mouse models of keratinisation.

Publications

Publications of specific relevance to Predictive in vitro Models

2021

Chao-Chu J, Murtough S, Zaman N, Pennington DJ, Blaydon DC and Kelsell DP (2021). iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility. Journal of Investigative Dermatology  vol. 141, (4) 722-726. 10.1016/j.jid.2020.09.010

2020

Griffiths CEM, Széll M and Kelsell DP (2020). The Future of ESDR. Journal of Investigative Dermatology  vol. 140, (9) S192-S193. 10.1016/j.jid.2020.03.958
Peltonen S, Eming SA, Griffiths CEM, Széll M, Kelsell D and De Rie MA (2020). Celebrating the 50th Anniversary of ESDR. Journal of Investigative Dermatology  vol. 140, (9) S145-S146. 10.1016/j.jid.2020.02.043
(2020). 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets. American Society For Clinical Investigation  Journal of Clinical Investigation  10.1172/JCI132987
de Oliveira RTG, Christofolini DM, Criado PR, Lacaz Martins E, Kelsell D and Machado Filho CDS (2020). Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree. International Journal of Dermatology  vol. 59, (6) 722-725. 10.1111/ijd.14894
Maruthappu T and Kelsell DP (2020). Inherited skin disease. Oxford Textbook of Medicine  10.1093/med/9780198746690.003.0552

2019

Temel G, Karaka B, eker , Turkgenç B, Zorlu , Sar cao lu H, O ur , Kütük , Kelsell DP and Yak c er MC (2019). A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. Cell and Tissue Research  vol. 378, (2) 267-277. 10.1007/s00441-019-03077-9
Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D, Duru F, Green KJ, Judge DP, Kelsell D, Lambiase PD, McKenna WJ, Pilichou K, Protonotarios A, Saffitz JE, Syrris P, Tandri H, Te Riele A, Thiene G, Tsatsopoulou A and van Tintelen JP (2019). Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report. European Journal of Heart Failure  vol. 21, (8) 955-964. 10.1002/ejhf.1534
(2019). Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype. British Journal of Dermatology  vol. 180, (5) 1114-1122. 10.1111/bjd.17388
Webb C, Murtough S, Chikh A, Picard HLD, Wang J, Pink R, Risk JM, Fitzgerald RC, Pennington DJ and Kelsell DP (2019). 454 iRhom2-mediated immune dysregulation: Impact on the skin and oesophagus. Journal of Investigative Dermatology  vol. 139, (5) 10.1016/j.jid.2019.03.530
Waller K, James C, de Jong A, Blackmore L, Ma Y, Stagg A, Kelsell D, O dwyer M, Hutchins R and Alazawi W (2019). ADAM17-mediated reduction in CD14++ CD16+ monocytes ex vivo and reduction in intermediate monocytes with immune paresis in acute pancreatitis and acute alcoholic hepatitis. Frontiers in Immunology  vol. 10, (AUG) 10.3389/fimmu.2019.01902

2018

Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng KE, Blaydon DC, Tinker A, Kelsell DP and Chikh A (2018). P63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response. Nature Communications  vol. 9, (1) 10.1038/s41467-018-03470-y
(2018). Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes. Elsevier  Journal of Investigative Dermatology  10.1016/j.jid.2018.05.013
Rahman MM, Hazan A, Selway JL, Herath DS, Harwood CA, Pirzado MS, Atkar R, Kelsell DP, Linton KJ, Philpott MP and Neill GW (2018). A novel mechanism for activation of GLI1 by nuclear SMO that escapes anti-SMO inhibitors. Cancer Research  vol. 78, (10) 2577-2588. 10.1158/0008-5472.CAN-17-2897
(2018). Noonan syndrome with multiple lentigines and associated craniosynostosis. Clinical and Experimental Dermatology  vol. 43, (3) 357-359. 10.1111/ced.13329
(2018). Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair. Journal of Investigative Dermatology  vol. 138, (4) 984-987. 10.1016/j.jid.2017.10.031
Puzzi L, Borin D, Martinelli V, Mestroni L, Kelsell DP and Sbaizero O (2018). Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation. Micron  vol. 106, 27-33. 10.1016/j.micron.2017.12.005
Russell MA, Pigors M, Houssen ME, Manson A, Kelsell D, Longhurst H and Morgan NG (2018). A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID). Clinical Immunology  vol. 187, 132-136. 10.1016/j.clim.2017.11.007

2017

(2017). A profile of lipid dysregulation in harlequin ichthyosis. Br J Dermatol  vol. 177, (5) e217-e219. 10.1111/bjd.15642
Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M and McGrath JA (2017). Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. Journal of Investigative Dermatology  vol. 137, (11) 2344-2353. 10.1016/j.jid.2017.06.028
Maruthappu T, Chikh A, Fell B, Delaney PJ, Brooke MA, Levet C, Moncada-Pazos A, Ishida-Yamamoto A, Blaydon D, Waseem A, Leigh IM, Freeman M and KELSELL DP (2017). Rhomboid family member 2 Regulates cytoskeletal stress associated Keratin 16. Nature Publishing Group  Nature Communications  vol. 8, 14174-14174. 10.1038/ncomms14174
Wolf C, Qian Y, Brooke MA, Kelsell DP and Franzke CW (2017). Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways. Scientific Reports  vol. 7, 10.1038/srep41343

2016

WOLF C, QIAN Y, BROOKE MA, KELSELL DP and FRANZKE CW (2016). ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C γ1 and protein kinase C pathways. Nature Publishing Group: Open Access Journals - Option C  Scientific Reports  vol. 6, 10.1038/srep39780
Pigors M, Sarig O, Heinz L, Plagnol V, Fischer F, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP and Blaydon DC (2016). Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Elsevier (Cell Press): 6 Month Embargo  American Journal of Human Genetics  10.1016/j.ajhg.2016.06.004
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I and Vulliamy T (2016). DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation. American Journal of Human Genetics  vol. 99, (1) 115-124. 10.1016/j.ajhg.2016.05.002
Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG and Kelsell DP (2016). New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report. Mol Syndromol  vol. 7, (3) 160-163. 10.1159/000446619
(2016). Acral peeling skin syndrome associated with a novel CSTA gene mutation. Clinical and Experimental Dermatology  vol. 41, (4) 394-398. 10.1111/ced.12777
Harris AG, Choy C, Pigors M, Kelsell DP and Murrell DF (2016). Cover image: Unpeeling the layers of harlequin ichthyosis. Br J Dermatol  vol. 174, (5) 1160-1161. 10.1111/bjd.14469
Boente MD, Nanda A, Baselaga PA, Kelsell DP, McGrath JA and South AP (2016). Cardiomyopathy diagnosed in the eldest child harboring p.S24X mutation in JUP. The British Journal of Dermatology  10.1111/bjd.14617
Sawada G, Niida A, Uchi R, Hirata H, Shimamura T, Suzuki Y, Shiraishi Y, Chiba K, Imoto S, Takahashi Y, Iwaya T, Sudo T, Hayashi T, Takai H, Kawasaki Y, Matsukawa T, Eguchi H, Sugimachi K, Tanaka F, Suzuki H, Yamamoto K, Ishii H, Shimizu M, Yamazaki H, Yamazaki M, Tachimori Y, Kajiyama Y, Natsugoe S, Fujita H and Mafune K (2016). Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population. Gastroenterology  vol. 150, (5) 1171-1182. 10.1053/j.gastro.2016.01.035

2015

Ellis A, Risk JM, Maruthappu T and Kelsell DP (2015). Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms. Orphanet Journal of Rare Diseases  vol. 10, (1) 10.1186/s13023-015-0346-2
Bland PJ, Chronnell C, Plagnol V, Kayserili H and Kelsell DP (2015). A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B. British Journal of Dermatology  vol. 173, (1) 285-287. 10.1111/bjd.13627
Alfawaz S, Plagnol V, Wong FSL and Kelsell DP (2015). A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis. Archives of Oral Biology  vol. 60, (7) 982-988. 10.1016/j.archoralbio.2015.02.023
Getsios S, Kelsell DP and Forge A (2015). Junctions in human health and inherited disease. Cell and Tissue Research  vol. 360, (3) 435-438. 10.1007/s00441-015-2171-2
Getsios S, Kelsell DP and Forge A (2015). Junctions in human health and inherited disease. Springer Verlag  Cell and Tissue Research  10.1007/s00441-015-2171-2
Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP and Mahoney MG (2015). Cell cycle- and cancer-associated gene networks activated by Dsg2: Evidence of cystatin a deregulation and a potential role in cell-cell adhesion. Plos One  vol. 10, (3) 10.1371/journal.pone.0120091
(2015). Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. American Journal of Human Genetics  vol. 96, (3) 440-447. 10.1016/j.ajhg.2014.12.026
Notari M, Hu Y, Sutendra G, Dedei Z, Lu M, Dupays L, Yavari A, Carr CA, Zhong S, Opel A, Tinker A, Clarke K, Watkins H, Ferguson DJP, Kelsell DP, De Noronha S, Sheppard MN, Hollinshead M, Mohun TJ and Lu X (2015). iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death. Proceedings of The National Academy of Sciences of The United States of America  vol. 112, (9) E973-E981. 10.1073/pnas.1408111112
Aggarwal S, Kar A, Bland P, Kelsell D and Dalal A (2015). Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis. Gene  vol. 556, (2) 254-256. 10.1016/j.gene.2014.12.002
Abrams DJ, Kirkby C, Page SP, Earley MJ, Nitiou D, Kelsell DP and Schilling RJ (2015). Evolution of electrocardiographic and structural features over 3 decades in arrhythmogenic cardiomyopathy. Circulation  vol. 131, (25) 2233-2235. 10.1161/CIRCULATIONAHA.115.014371
Salas-Alanis JC, Wozniak E, Mein CA, Mckinster CCD, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML, Choate KA and Saldaña HAB (2015). Mutations in EDA and EDAR genes in a large mexican hispanic cohort with hypohidrotic ectodermal dysplasia. Annals of Dermatology  vol. 27, (4) 474-477. 10.5021/ad.2015.27.4.474
Maney SK, McIlwain DR, Polz R, Pandyra AA, Sundaram B, Wolff D, Ohishi K, Maretzky T, Brooke MA, Evers A, Vasudevan AAJ, Aghaeepour N, Scheller J, Münk C, Häussinger D, Mak TW, Nolan GP, Kelsell DP, Blobel CP, Lang KS and Lang PA (2015). Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17. Science Signaling  vol. 8, (401) 10.1126/scisignal.aac5356

2014

Blaydon DC and Kelsell DP (2014). Defective channels lead to an impaired skin barrier. J Cell Sci  vol. 127, (Pt 20) 4343-4350. 10.1242/jcs.154633
Aggarwal S, Kar A, Bland P, Kelsell D and Dalal A (2014). Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis. Elsevier  Gene  10.1016/j.gene.2014.12.002
(2014). Exoming into rare skin disease: EGFR deficiency. J Invest Dermatol  vol. 134, (10) 2486-2488. 10.1038/jid.2014.228
Maruthappu T, Scott CA and Kelsell DP (2014). Discovery in genetic skin disease: the impact of high throughput genetic technologies. Genes (Basel)  vol. 5, (3) 615-634. 10.3390/genes5030615
(2014). iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function. Hum Mol Genet  vol. 23, (15) 4064-4076. 10.1093/hmg/ddu120
Nitoiu D, Etheridge SL and Kelsell DP (2014). Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes. Cell Commun Adhes  vol. 21, (3) 129-140. 10.3109/15419061.2014.908854
Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP and MacDonald TT (2014). Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α. Gut  vol. 63, (1) 96-104. 10.1136/gutjnl-2012-303581

2013

(2013). Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet  vol. 93, (2) 330-335. 10.1016/j.ajhg.2013.06.008
Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J and Kelsell DP (2013). Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Arch Oral Biol  vol. 58, (5) 462-466. 10.1016/j.archoralbio.2012.12.008
Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J and Kelsell DP (2013). Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene. Archives of Oral Biology  vol. 58, (5) 462-466. 10.1016/j.archoralbio.2012.12.008
(2013). Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. J Invest Dermatol  vol. 133, (2) 573-576. 10.1038/jid.2012.332
Curtis MA and Kelsell DP (2013). Current insights into protease dynamics in human epithelial disease and barrier function. Cell Tissue Res  vol. 351, (2) 213-215. 10.1007/s00441-013-1559-0
Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC (2013). Rhomboid proteins: A role in keratinocyte proliferation and cancer. Cell and Tissue Research  vol. 351, (2) 301-307. 10.1007/s00441-012-1542-1
Curtis MA and Kelsell DP (2013). Current insights into protease dynamics in human epithelial disease and barrier function. Cell and Tissue Research  vol. 351, (2) 213-215. 10.1007/s00441-013-1559-0
Simpson C, Kelsell DP and Marchès O (2013). Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell Tissue Res  vol. 351, (1) 107-116. 10.1007/s00441-012-1502-9
Simpson C, Kelsell DP and Marchès O (2013). Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell and Tissue Research  vol. 351, (1) 107-116. 10.1007/s00441-012-1502-9
(2013). Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. Journal of Investigative Dermatology  vol. 133, (2) 573-576. 10.1038/jid.2012.332
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V and Kelsell DP (2013). A missense mutation in the MBTPS2 gene underlies the x-linked form of olmsted syndrome. Journal of Investigative Dermatology  vol. 133, (2) 571-573. 10.1038/jid.2012.289

2012

Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP, Leigh IM and Proby CM (2012). Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. Int J Cancer  vol. 131, (3) E216-E226. 10.1002/ijc.27333
(2012). Connexins in epidermal homeostasis and skin disease. Biochimica Et Biophysica Acta - Biomembranes  vol. 1818, (8) 1952-1961. 10.1016/j.bbamem.2011.09.004
Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP, Leigh IM and Proby CM (2012). Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene. International Journal of Cancer  vol. 131, (3) 10.1002/ijc.27333
Cabral RM, Tattersall D, Patel V, McPhail GD, Hatzimasoura E, Abrams DJ, South AP and Kelsell DP (2012). The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes. J Cell Sci  vol. 125, (Pt 12) 2853-2861. 10.1242/jcs.084152
Blaydon DC, Etheridge SL, Risk JM, Hennies H-C, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP and Kelsell DP (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet  vol. 90, (2) 340-346. 10.1016/j.ajhg.2011.12.008
MacDonald TT, Harper JI and Kelsell DP (2012). Inflammatory Bowel Disease and ADAM17 Deletion REPLY. New England Journal of Medicine  vol. 366, (2) 190-190. 10.1056/NEJMc1113859
MacDonald TT, Harper JI and Kelsell DP (2012). The authors reply. New England Journal of Medicine  vol. 366, (2) 10.1016/S2215-0366(16)00018-3
Brooke MA, Nitoiu D and Kelsell DP (2012). Cell-cell connectivity: desmosomes and disease. J Pathol  vol. 226, (2) 158-171. 10.1002/path.3027
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V and Kelsell DP (2012). A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome. Journal of Investigative Dermatology  10.1038/jid.2012.289
Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC (2012). Rhomboid proteins: a role in keratinocyte proliferation and cancer. Cell and Tissue Research  1-7. 10.1007/s00441-012-1542-1
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavi i t D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P and Stupka E (2012). Characterisation and validation of insertions and deletions in 173 patient exomes. Plos One  vol. 7, (12) 10.1371/journal.pone.0051292

2011

(2011). Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med  vol. 365, (16) 1502-1508. 10.1056/NEJMoa1100721
Blaydon DC, Nitoiu D, Eckl K-M, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC and Kelsell DP (2011). Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet  vol. 89, (4) 564-571. 10.1016/j.ajhg.2011.09.001
Pyati UJ, Gjini E, Carbonneau S, Lee JS, Guo F, Jette CA, Kelsell DP and Look AT (2011). p63 Mediates an Apoptotic Response to Pharmacological and Disease-Related ER Stress in the Developing Epidermis. Dev Cell  vol. 21, (3) 492-505. 10.1016/j.devcel.2011.07.012
Scott CA and Kelsell DP (2011). Key functions for gap junctions in skin and hearing. Biochem J  vol. 438, (2) 245-254. 10.1042/BJ20110278
Kelsell DP and Byrne C (2011). SNPing at the Epidermal Barrier. J Invest Dermatol  vol. 131, (8) 1593-1595. 10.1038/jid.2011.92
(2011). Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol  vol. 147, (6) 681-686. 10.1001/archdermatol.2011.9
(2011). Collodion Baby. Harper\'s Textbook of Pediatric Dermatology: Third Edition  10.1002/9781444345384.ch12
(2011). Harlequin Ichthyosis. Harper\'s Textbook of Pediatric Dermatology: Third Edition  10.1002/9781444345384.ch13
(2011). Connexins in epidermal homeostasis and skin disease. Biochimica Et Biophysica Acta - Biomembranes  10.1016/j.bbamem.2011.09.004
(2011). Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. Clin Exp Dermatol  vol. 36, (1) 88-90. 10.1111/j.1365-2230.2010.03945.x

2010

Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP and South AP (2010). Identification and characterization of DSPIa, a novel isoform of human desmoplakin. Cell Tissue Res  vol. 341, (1) 121-129. 10.1007/s00441-010-0989-1
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA, Baselaga PA, Mellerio JE, Nanda A, Boente MDC, Kelsell DP, McGrath JA and South AP (2010). Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol  vol. 130, (6) 1543-1550. 10.1038/jid.2010.7

2009

Tattersall D, Scott CA, Gray C, Zicha D and Kelsell DP (2009). EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum Mol Genet  vol. 18, (24) 4734-4745. 10.1093/hmg/ddp436
(2009). Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population. Br J Dermatol  vol. 160, (5) 1113-1115. 10.1111/j.1365-2133.2009.09050.x
(2009). Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol  vol. 174, (3) 970-978. 10.2353/ajpath.2009.080860
Aasen T and Kelsell DP (2009). Connexins in skin biology. Connexins: a Guide  10.1007/978-1-59745-489-6_14

2008

Ellis PE, Cano SD, Fear M, Kelsell DP, Ghali L, Crow JC, Perrett CW and MacLean AB (2008). Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast. Mod Pathol  vol. 21, (10) 1192-1199. 10.1038/modpathol.2008.50
Matos TD, Caria H, Simoes-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP and Fialho G (2008). A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. Hearing Res  vol. 240, (1-2) 87-92. 10.1016/j.heares.2008.03.004
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam J-S, Yoon JK, Kelsell DP and Christiano AM (2008). Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol  vol. 128, (4) 867-870. 10.1038/sj.jid.5701078
(2008). Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis. Br J Dermatol  vol. 158, (3) 611-613. 10.1111/j.1365-2133.2007.08277.x

2007

(2007). A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. J Med Genet  vol. 44, (11) 721-725. 10.1136/jmg.2007.050682
(2007). A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol  vol. 218, (1-3) 29-37. 10.1007/s00232-007-9025-0
Purdie KJ, Lambert SR, Teh M-T, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM, Harwood CA, Proby CM and Young BD (2007). Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer  vol. 46, (7) 661-669. 10.1002/gcc.20447
Kelsell DP, HARWOOD CA, Leigh IM, Proby CM, Purdie KJ, Teh MT, Lambert SR, Young BD, Raghavan M, Molloy G and Chaplin T (2007). Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer  vol. 46, 661-669.
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SYK, Bodemer C, Prins C, Antille C, Saurat J-H, Atherton D, Harper JI, Kelsell DP and Hovnanian A (2007). Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol  vol. 156, (5) 1015-1019. 10.1111/j.1365-2133.2007.07806.x
Blaydon DC, Philpott MP and Kelsell DP (2007). R-spondins in cutaneous biology: Nails and cancer. Cell Cycle  vol. 6, (8) 895-897. 10.4161/cc.6.8.4136
Blaydon DC, Philpott MP and Kelsell DP (2007). R-spondins in cutaneous biology: nails and cancer. Cell Cycle  vol. 6, (8) 895-897. 10.4161/cc.6.8.4136
Kelsell DP, Blaydon D and Mein CA (2007). Identifying Mutations in Single Gene Disorders. 10.1002/9780470059180.ch7
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP (2007). Erratum: Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (Journal of Cell Science vol. 120 (330-339)). Journal of Cell Science  vol. 120, (5) 10.1242/jcs.03421
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP (2007). Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (vol 120, pg 330, 2007). J Cell Sci  vol. 120, (5) 917-917. 10.1242/jcs.03329
Unsworth HC, Aasen T, McElwaine S and Kelsell DP (2007). Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. Hum Mol Genet  vol. 16, (2) 165-172. 10.1093/hmg/ddl452
Teh M-T, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP (2007). Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. J Cell Sci  vol. 120, (Pt 2) 330-339. 10.1242/jcs.03329

2006

(2006). ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol  vol. 126, (11) 2408-2413. 10.1038/sj.jid.5700455
(2006). The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet  vol. 38, (11) 1245-1247. 10.1038/ng1883
Rajpar SF, Cullup T, Kelsell DP and Moss C (2006). A novel ABCA12 mutation underlying a case of Harlequin ichthyosis. Br J Dermatol  vol. 155, (1) 204-206. 10.1111/j.1365-2133.2006.07291.x
Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM and Kelsell DP (2006). Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol  vol. 126, (7) 1651-1654. 10.1038/sj.jid.5700291
Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MVL and Bukauskas FF (2006). Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Proc Natl Acad Sci U S A  vol. 103, (13) 5213-5218. 10.1073/pnas.0511091103
Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E, Severs NJ, Leigh IM, Yuksel-Apak M, Kelsell DP and Wollnik B (2006). Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet  vol. 43, (2) 10.1136/jmg.2005.032904
Wierzbicka E, Robert M, Herbreteau D, Lorette G, Jury CS, Mealyea M, McHenry P, Lever R, Wallach D, Coste J, Tilles G, Taïeb A, Debons M, Bernier C, Barbarot S, Chavigny JM, Le Fol C, Bauer D, Anton M, Mollé I, Gagnayre R, Stalder JF, Carrie E, Hadj-Rabia S, Bourdon-Lanoy E, Pruskowski A, Hamel D, De Prost Y, Casanova JL and Bodemer C (2006). The French Society of Dermatology. Joint session between the French Society of Pediatric Dermatology, the French Society of Dermatology and the British Society of Paediatric Dermatology. Annales De Dermatologie Et De Venereologie  vol. 133, (6-7) 614-629. 10.1016/s0151-9638(06)70980-2

2005

(2005). Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Invest Dermatol  vol. 125, (5) 920-927. 10.1111/j.0022-202X.2005.23919.x
(2005). Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830). Clin Exp Dermatol  vol. 30, (6) 688-693. 10.1111/j.1365-2230.2005.01878.x
Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IPM and Weaver T (2005). Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. J Mol Diagn  vol. 7, (4) 437-443. 10.1016/S1525-1578(10)60574-0
Teh M-T, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM, Philpott MP, Young BD and Kelsell DP (2005). Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event. Cancer Res  vol. 65, (19) 8597-8603. 10.1158/0008-5472.CAN-05-0842
Philpott MP, KELSELL DP, Harwood C, Proby C, Blaydon D, Teh M-T, Foot NJ, Skoulakis S, Chaplin T and Young BD (2005). Genome-wide SNP Microarray Mapping in Basal Cell Carcinomas Unveils Uniparental Disomy as a Key Somatic Event. Cancer Research  vol. 65, 8597-8603.
(2005). Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet  vol. 76, (5) 794-803. 10.1086/429844
(2005). Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. J Cell Sci  vol. 118, (Pt 7) 1505-1514. 10.1242/jcs.01733
Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S and Tomlinson IPM (2005). Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol  vol. 141, (2) 199-206. 10.1001/archderm.141.2.199

2004

Kelsell DP (2004). Connexin mutations in human disease. Exp Dermatol  vol. 13, (10) 661-662. 10.1111/j.0906-6705.2004.0250f.x
Gu Y, Di WL, Kelsell DP and Zicha D (2004). Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing. J Microsc  vol. 215, (Pt 2) 162-173. 10.1111/j.0022-2720.2004.01365.x
Common JEA, Di W-L, Davies D and Kelsell DP (2004). Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival. J Med Genet  vol. 41, (7) 573-575. 10.1136/jmg.2003.017632
Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP and Haftek M (2004). Hereditary 'white nails': a genetic and structural study. Br J Dermatol  vol. 151, (1) 65-72. 10.1111/j.1365-2133.2004.05994.x
Brown VL, Harwood CA, Crook T, Cronin JG, Kelsell DP and Proby CM (2004). p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma. J Invest Dermatol  vol. 122, (5) 1284-1292. 10.1111/j.0022-202X.2004.22501.x
Skerrett IM, Di W-L, Kasperek EM, Kelsell DP and Nicholson BJ (2004). Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T. Faseb J  vol. 18, (7) 860-862. 10.1096/fj.03-0763fje
Langan JE, Cole CG, Huckle EJ, Byrne S, McRonald FE, Rowbottom L, Ellis A, Shaw JM, Leigh IM, Kelsell DP, Dunham I, Field JK and Risk JM (2004). Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene. Hum Genet  vol. 114, (6) 534-540. 10.1007/s00439-004-1100-3
Skerrett IM, Di WL, Kasperek EM, Kelsell DP and Nicholson BJ (2004). Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T. The Faseb Journal : Official Publication of The Federation of American Societies For Experimental Biology  vol. 18, (7) 860-862. 10.1096/fj.03-0763fje

2003

Alam NA, Gorman P, Jaeger EEM, Kelsell D, Leigh IM, Ratnavel R, Murdoch ME, Houlston RS, Aaltonen LA, Roylance RR and Tomlinson IPM (2003). Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability. Cancer Genet Cytogenet  vol. 147, (2) 121-127. 10.1016/s0165-4608(03)00196-1
Hatsell SJ, Stevens H, Jackson AP, Kelsell DP and Zvulunov A (2003). An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13. Br J Dermatol  vol. 149, (1) 174-180. 10.1046/j.1365-2133.2003.05386.x
Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts EDA, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A and Mann RJ (2003). Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet  vol. 12, (11) 1241-1252. 10.1093/hmg/ddg148
Edmunds SC, Cree IA, Dí Nícolantonío F, Hungerford JL, Hurren JS and Kelsell DP (2003). Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas. Br J Cancer  vol. 88, (9) 1403-1405. 10.1038/sj.bjc.6600919

2002

Huen AC, Park JK, Godsel LM, Chen X, Bannon LJ, Amargo EV, Hudson TY, Mongui AK, Leigh IM, Kelsell DP, Gumbiner BM and Green KG (2002). Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength. The Rockefeller University Press  Journal of Cell Biology.  vol. 159, (6) 1005-1017. 10.1083/jcb.200206098
Edmunds SC and Kelsell DP (2002). Double jeopardy: Ras and CDK4 co-expression in skin cancer. Trends Mol Med  vol. 8, (12) 10.1016/s1471-4914(02)02446-2
(2002). Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun  vol. 298, (5) 651-656. 10.1016/s0006-291x(02)02517-2
Risk JM, Evans KE, Jones J, Langan JE, Rowbottom L, McRonald FE, Mills HS, Ellis A, Shaw JM, Leigh IM, Kelsell DP and Field JK (2002). Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Oncogene  vol. 21, (41) 6395-6402. 10.1038/sj.onc.1205768
Edmunds SC, Kelsell DP, Hungerford JL and Cree IA (2002). Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma. Invest Ophthalmol Vis Sci  vol. 43, (9) 2845-2851.
Brown VL, Harwood CA, Crook T, Kelsell DP and Proby CM (2002). Mechanisms of inactivation of p16(INK4a) & p14(ARF) in cutaneous squamous cell carcinoma. J Invest Dermatol  vol. 119, (3) 752-752.
Di WL, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Rugg EL, Leigh IM, Zicha D and Kelsell DP (2002). Defective trafficking and cell death are characteristic of skin disease-associated connexin 31 mutations in keratinocytes. J Invest Dermatol  vol. 119, (3) 745-745.
Di W-L, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Leigh IM, Rugg EL, Zicha D and Kelsell DP (2002). Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet  vol. 11, (17) 2005-2014. 10.1093/hmg/11.17.2005
KELSELL DP, Leigh IM, Rugg EL, Holland KA, Monypenny J, Di WL, Zicha DI, Kennedy CTC and Common JEA (2002). Defective trafficking and cell death is characteristic of skin disease-associated Connexin 31 mutations. Human Molecular Genetics.  vol. 11, (17) 2005-2014.
Brown VL, Proby CM, Barnes DM and Kelsell DP (2002). Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours. Br J Cancer  vol. 87, (2) 208-211. 10.1038/sj.bjc.6600418
Rugg EL, Common JEA, Wilgoss A, Stevens HP, Buchan J, Leigh IM and Kelsell DP (2002). Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography. Br J Dermatol  vol. 146, (6) 952-957. 10.1046/j.1365-2133.2002.04764.x
Gottfried I, Landau M, Glaser F, Di W-L, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP and Avraham KB (2002). A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet  vol. 11, (11) 1311-1316. 10.1093/hmg/11.11.1311
Kelsell DP, Di W, Common JEA, Holland KA, Rugg EL and Leigh IM (2002). Functional analyses of connexin mutations in keratinocytes (vol 117, pg 775, 2001). J Invest Dermatol  vol. 118, (4) 741-741.
Tomlinson IPM, Alam NA, Rowan AJ, Barclay E, Jaeger EEM, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R and Launonen V (2002). Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet  vol. 30, (4) 406-410. 10.1038/ng849
KELSELL DP, Avraham KB, Ophir J, Glaser F, Gottfried I, Mevorah B, Ben-Tal N, Landau M and Di WL (2002). A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective tracking of the connexin 31 protein. Human Molecular Genetics  vol. 11, (11) 1311-1316.
Kelsell DP, Di W, Common JEA, Holland KA, Rugg EL and Leigh IM (2002). Erratum: Functional analyses of connexin mutations in keratinocytes (Journal of Investigative Dermatology (September 2001) 117: 3 (775)). Journal of Investigative Dermatology  vol. 118, (4) 10.1046/j.1523-1747.2002.01748.x
Norgett EE and Kelsell DP (2002). SPINK5: both rare and common skin disease. Trends Mol Med  vol. 8, (1) 10.1016/s1471-4914(01)02228-6

2001

Fletcher ST, Fentem JH, Basketter DA, Kelsell DP, Philpott M and Baker VA (2001). Microarray and proteomic analysis of early gene regulation following exposure to skin irritants. Toxicology  vol. 168, (1) 101-102.
Di WL, Rugg EL, Leigh IM and Kelsell DP (2001). Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31. J Invest Dermatol  vol. 117, (4) 958-964. 10.1046/j.0022-202x.2001.01468.x
Neill GW and Kelsell DP (2001). Spotting prostate cancer. Trends Mol Med  vol. 7, (10) 10.1016/s1471-4914(01)02160-8
Rugg EL, Wilgoss A, Stevens HP, Leigh IM and Kelsell DP (2001). The identification of mutations in keratin 9 using denaturing high performance liquid chromatography. J Invest Dermatol  vol. 117, (3) 779-779.
Kelsell DP, Di W, Common JEA, Rugg EL and Leigh IM (2001). Functional analyses of connexin mutations in keratinocytes. J Invest Dermatol  vol. 117, (3) 775-775.
(2001). Heterogeneity of genetic mutations in erythrokeratodermas. J Invest Dermatol  vol. 117, (3) 797-797.
Fletcher S, Baker V, Fentem J, Basketter D and Kelsell D (2001). Microarray analysis of gene expression following exposure to skin irritants. J Invest Dermatol  vol. 117, (2) 528-528.
Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B and Bitner-Glindzicz M (2001). Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families. J Med Genet  vol. 38, (8) 530-533. 10.1136/jmg.38.8.530
Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E, Pembroke AC, Friedmann PS, Dalziel K, Calonje E, Anderson J, August PJ, Davies MG, Felix R, Munro CS, Murdoch M, Rendall J, Kennedy S, Leigh IM, Kelsell DP, Tomlinson IP and Houlston RS (2001). Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet  vol. 68, (5) 1264-1269. 10.1086/320124
Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C and Kelsell DP (2001). Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds. J Invest Dermatol  vol. 116, (4) 606-609. 10.1046/j.1523-1747.2001.13041234.x
Kelsell DP, Di WL and Houseman MJ (2001). Connexin mutations in skin disease and hearing loss. Am J Hum Genet  vol. 68, (3) 559-568. 10.1086/318803
Fear MW, Hatsell SJ, Leigh IM and Kelsell DP (2001). Whats new in genodermatoses? Keio J Med  vol. 50, (1) 35-38. 10.2302/kjm.50.35
Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK, Hennies HC, Küster W, Hughes AE, Arnemann J, Leigh IM, McGrath JA, Kelsell DP and Buxton RS (2001). Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet  vol. 9, (3) 197-203. 10.1038/sj.ejhg.5200605
Di WL, Common JEA and Kelsell DP (2001). Connexin 26 expression and mutation analysis in epidermal disease. Cell Communication and Adhesion  vol. 8, (4-6) 415-418. 10.3109/15419060109080763
Kelsell DP, Dunlop J and Hodgins MB (2001). Human diseases: clues to cracking the connexin code? Trends Cell Biol  vol. 11, (1) 2-6. 10.1016/s0962-8924(00)01866-3
Kelsell D (2001). R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Reply. Eur J Hum Genet  vol. 9, (1) 70-70. 10.1038/sj.ejhg.5200569
LoÓpez-Bigas N, Rabionet R, Arboneés ML, Estivill X and Kelsell D (2001). R32W variant in Connexin 31: Mutation or polymorphism for deafness and skin disease? (multiple letters) [2]. European Journal of Human Genetics  vol. 9, (1) 10.1038/sj.ejhg.5200569
Fear MW and Kelsell DP (2001). The two-hybrid cancer suicide pill. Trends in Molecular Medicine  vol. 7, (5) 10.1016/s1471-4914(01)01987-6
Di WL, Common JE and Kelsell DP (2001). Connexin 26 expression and mutation analysis in epidermal disease. Cell Commun Adhes  vol. 8, (4-6) 415-418. 10.3109/15419060109080763
Davies D, KELSELL DP, Common JEA and Wei-Li D (2001). Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival. Journal of Medical Genetics.  vol. 41, 573-575.
Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF and Kelsell DP (2001). Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss. J Med Genet  vol. 38, (1) 20-25. 10.1136/jmg.38.1.20

2000

Kelsell DP, Norgett EE, Hatsell SJ, Common JEA, Cabezas JCR, Stevens HP, Carvajal-Huerta L and Leigh IM (2000). Recessive mutation in desmoplakin disrupts desmoplakin/intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. J Invest Dermatol  vol. 115, (6) 1170-1170.
Ishida-Yamamoto A, Kelsell D, Common J, Houseman MJ, Hashimoto M, Shibaki H, Asano K, Takahashi H, Hashimoto Y, Senshu T, Leigh IM and Iizuka H (2000). A case of erythrokeratoderma variabilis without mutations in connexin 31. Brit J Dermatol  vol. 143, (6) 1283-1287. 10.1046/j.1365-2133.2000.03902.x
Di WL, Common JEA and Kelsell DP (2000). Connexin 26 expression and mutation analysis in epidermal disease. Cell Adhesion and Communication  vol. 8, (4-6) 415-418.
Fear MW, Kelsell DP, Spurr NK and Barnes MR (2000). Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues. Biochemical and Biophysical Research Communications  vol. 278, (3) 814-820. 10.1006/bbrc.2000.3852
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JCR, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP and Kelsell DP (2000). Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Human Molecular Genetics  vol. 9, (18) 2761-2766. 10.1093/hmg/9.18.2761
Hanby AM, Kelsell DP, Potts HW, Gillett CE, Timothy Bishop D, Spurr NK and Barnes DM (2000). Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer. International Journal of Cancer  vol. 88, (2) 204-208. 10.1002/1097-0215(20001015)88:2<204::AID-IJC9>3.0.CO;2-1
Lamartine J, Essenfelder GM, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA and Waksman G (2000). Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nature Genetics  vol. 26, (2) 142-144. 10.1038/79851
Hatsell SJ and Kelsell DP (2000). The diffuse palmoplantar keratodermas. Acta Dermatovenerologica Alpina, Panonica Et Adriatica  vol. 9, (2) 47-55.
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS and Leigh IM (2000). Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family (European Journal of Human Genetics (2000) 8 (141-144)). European Journal of Human Genetics  vol. 8, (6) 468-472. 10.1038/sj.ejhg.5200510
Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Clarke Fraser F, Der Kaloustian VM and Rouleau GA (2000). Clouston hidrotic ectodermal dysplasia (HED): Genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. European Journal of Human Genetics  vol. 8, (5) 372-380. 10.1038/sj.ejhg.5200471
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS and Leigh IM (2000). Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. European Journal of Human Genetics  vol. 8, (2) 141-144. 10.1038/sj.ejhg.5200407
Chavanas S, Garner C, Bodemer C, Ali M, Hamel-Teillac D, Wilkinson J, Bonafé JL, Paradisi M, Kelsell DP, Ansai SI, Mitsuhashi Y, Larrègue M, Leigh IM, Harper JI, Taïeb A, De Prost Y, Cardon LR and Hovnanian A (2000). Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. American Journal of Human Genetics  vol. 66, (3) 914-921. 10.1086/302824
Talas U, Dunlop J, Khalaf S, Leigh IM and Kelsell DP (2000). Human elastase 1: Evidence for expression in the skin and the identification of a frequent frameshift polymorphism. Journal of Investigative Dermatology  vol. 114, (1) 165-170. 10.1046/j.1523-1747.2000.00825.x
Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP, Latham ID, Chase JM, Fisher EMC, Bouzyk MM, Potter A, Masih M, Walsh FS, Sims MA, Doncaster KE, Parsons CA, Martin J, Brown SDM, Rastan S, Spurr NK and Gray IC (2000). Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. Human Molecular Genetics  vol. 9, (12) 1865-1871. 10.1093/hmg/9.12.1865

1999

Risk JM, Ruhrberg C, Hennies HC, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM, Bishop DT, Spurr NK, Stevens HP, Leigh IM, Reis A, Kelsell DP and Field JK (1999). Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): The integration of genetic and physical maps of the TOC region on 17q25. Genomics  vol. 59, (2) 234-242. 10.1006/geno.1999.5857
Rickman L, Šimrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RAJ, Leigh IM, Arnemann J, Magee AI, Kelsell DP and Buxton RS (1999). N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Human Molecular Genetics  vol. 8, (6) 971-976. 10.1093/hmg/8.6.971
Stevens HP, Choon SE, Hennies HC and Kelsell DP (1999). Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia [1]. British Journal of Dermatology  vol. 140, (5) 963-964. 10.1046/j.1365-2133.1999.02837.x
Kelsell DP and Stevens HP (1999). The palmoplantar keratodermas: Much more than palms and soles. Molecular Medicine Today  vol. 5, (3) 107-113. 10.1016/S1357-4310(98)01428-2
Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RAJ, Walter JM, Kennedy CTC and Kelsell DP (1999). Identification of a novel mutation R42P in the gap junction protein β-3 associated with autosomal dominant erythrokeratoderma variabilis. Journal of Investigative Dermatology  vol. 113, (6) 1119-1122. 10.1046/j.1523-1747.1999.00792.x
Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MHA and Leigh IM (1999). Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: Exclusion of the mapped type II keratins. Experimental Dermatology  vol. 8, (5) 388-391. 10.1111/j.1600-0625.1999.tb00387.x

1998

White TW, Deans MR, Kelsell DP and Paul DL (1998). Connexin mutations in deafness [5]. Nature  vol. 394, (6694) 630-631. 10.1038/29202
Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L and Brooks D (1998). Erratum: Tissue restricted expression of two human Frzbs in preadipocytes and pancreas (Biochemical and Biophysical Research Communications (1998) 247, 2 (287-293)). Biochemical and Biophysical Research Communications  vol. 248, (3) 940-942. 10.1006/bbrc.1998.9014
Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L and Brooks D (1998). Tissue restricted expression of two human Frzbs in preadipocytes and pancreas. Biochemical and Biophysical Research Communications  vol. 247, (2) 287-293. 10.1006/bbrc.1998.8784
Phelan CM, Borg A, Cuny M, Crichton DN, Baldersson T, Andersen TI, Caligo MA, Lidereau R, Lindblom A, Seitz S, Kelsell D, Hamann U, Rio P, Thorlacius S, Papp J, Olah E, Ponder B, Bignon YJ, Scherneck S, Barkardottir R, Borresen-Dale AL, Eyfjörd J, Theillet C, Thompson AM, Devilee P and Larsson C (1998). Consortium study on 1280 breast carcinomas: Allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters. Cancer Research  vol. 58, (5) 1004-1012.
Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJH, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ and Van Camp G (1998). A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). Journal of Medical Genetics  vol. 35, (2) 151-152. 10.1136/jmg.35.2.151

1997

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF and Leigh IM (1997). Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature  vol. 387, (6628) 80-83. 10.1038/387080a0
Xu CF, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S, Hodgson S, Kelsell DP, Spurr NK, Bishop DT and Solomon E (1997). Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes Chromosomes and Cancer  vol. 18, (2) 102-110. 10.1002/(SICI)1098-2264(199702)18:2<102::AID-GCC4>3.0.CO;2-6
Kelsell DP and Spurr NK (1997). Gene mapping using somatic cell hybrids. Methods in Molecular Biology (Clifton, N.J.)  vol. 68, 45-52. 10.1385/0-89603-482-8:45

1996

Smith FJD, Eady RAJ, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, De Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WHI and Lane EB (1996). Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nature Genetics  vol. 13, (4) 450-457. 10.1038/ng0896-450
Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L, Bishop T, Kelsell D, Solomon E, Weber B, Couch F, Struewing J, Tonin P, Durocher F, Narod S, Skolnick MH, Lenoir G, Serova O, Ponder B, Stoppa-Lyonnet D, Easton D, King MC and Goldgar DE (1996). Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study. American Journal of Human Genetics  vol. 58, (2) 271-280.
Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RPR, Spurr NK and Leigh IM (1996). Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13. Journal of Investigative Dermatology  vol. 106, (4) 795-797. 10.1111/1523-1747.ep12346400
Kelsell DP, Spurr NK, Barnes DM, Gusterson B and Bishop DT (1996). Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas [8]. Lancet  vol. 347, (9014) 1554-1555. 10.1016/S0140-6736(96)90707-2
Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J, Bishop DT, Spurr NK and Field JK (1996). Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC). Human Molecular Genetics  vol. 5, (6) 857-860. 10.1093/hmg/5.6.857
Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, Macdermot KD and Rustin MHA (1996). Punctate palmoplantar keratoderma and malignancy in a four-generation family. British Journal of Dermatology  vol. 134, (4) 720-726. 10.1111/j.1365-2133.1996.tb06978.x
Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L, Wieben E and Weinshilboum R (1996). Thiopurine methyltransferase pharmacogenetics: Human gene cloning and characterization of a common polymorphism. Dna and Cell Biology  vol. 15, (1) 17-30. 10.1089/dna.1996.15.17
Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS and Leigh IM (1996). Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24: Literature survey and proposed updated classification of the keratodermas. Archives of Dermatology  vol. 132, (6) 640-651. 10.1001/archderm.132.6.640

1995

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rices C, Biggs P, Hashim Y, Smith A, Connor F, Arason A, Gudmundsson J, Flcenec D, Kelsell D, Ford D, Tonin P, Timothy Bishop D, Spurr NK, Ponder BAJ, Eeles R, Peto J and Devilee P (1995). Identification of the breast cancer susceptibility gene BRCA2. Nature  vol. 378, (6559) 789-792. 10.1038/378789a0
Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM and Spurr NK (1995). Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: Evidence for heterogeneity. Human Molecular Genetics  vol. 4, (6) 1021-1025. 10.1093/hmg/4.6.1021
KELSELL DP, ROOKE L, WARNE D, BOUZYK M, CULLIN L, COX S, WEST L, POVEY S and SPURR NK (1995). Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping. Annals of Human Genetics  vol. 59, (2) 233-241. 10.1111/j.1469-1809.1995.tb00743.x
Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Ponder BAJ, Weber BL, Garber JE, Birch JM, Cornelis RS, Kelsell DP, Spurr NK, Smyth E, Haites N, Sobol H, Bignon YJ, Chang-Claude J and Hamann U (1995). An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. American Journal of Human Genetics  vol. 56, (1) 254-264.
Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BAJ, Tonin P, Hamann U, Lindblom A, Lalle P, Longy M, Olàh E, Scherneck S, Bignon Y, Sobol H, Chang Claude J, Larsson C, Spurr N, Borg A, Barkardottir RB, Narod S and Devilee P (1995). High allele loss rates at I7q I2‐q2I in breast and ovarian tumors from BRCAI‐linked families. Genes, Chromosomes and Cancer  vol. 13, (3) 203-210. 10.1002/gcc.2870130310

1993

Kelsell DP, Black DM, Solomon E and Spurr NK (1993). Localization of a second nm23 gene, nme2, to chromosome 17q21-q22. Genomics  vol. 17, (2) 522-524. 10.1006/geno.1993.1362
Spurr NK, Kelsell DP, Black DM, Murday VA, Turner G, Crockford GP, Solomon E, Cartwright RA and Bishop DT (1993). Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17. American Journal of Human Genetics  vol. 52, (4) 777-785.

1991

SPURR NK, KELSELL D, ROOKE L, CAVALLI SFORZA LL, BOWCOCK A and FEDER J (1991). Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms. Annals of Human Genetics  vol. 55, (2) 141-150. 10.1111/j.1469-1809.1991.tb00407.x

1990

Kelsell DP, Wolf CR and Spurr NK (1990). An Xmnl RFLP detected with a probe for the CYP2E gene locus on chromosome 10. Nucleic Acids Research  vol. 18, (10) 10.1093/nar/18.10.3111
Walsh FS, Barton CH, Putt W, Moore SE, Kelsell D, Spurr N and Goodfellow PN (1990). N‐Cadherin Gene Maps to Human Chromosome 18 and Is Not Linked to the E‐Cadherin Gene. Journal of Neurochemistry  vol. 55, (3) 805-812. 10.1111/j.1471-4159.1990.tb04563.x

Grants

Grants of specific relevance to Predictive in vitro Models
iRhom2 and the keratinocyte stress response in health and disease
Kelsell D
£576,000 Medical Research Council (31-03-2019 - 30-03-2022)
iRHOM/ADAM17 in oesophageal squamous cell cancer
Kelsell DP
£110,000 Cancer Research UK (01-04-2015 - 31-03-2020)
Summary