Research

keratinocyte, keratinisation disorders, cell communication, cardiomyopathy

Cardiovascular Models, Skin Models

Interests

Publications

Publications of specific relevance to Predictive in vitro Models

2025

A Role for High Mobility Group Box 1 (HMGB1) Release in the Pathogenesis of Gastroesophageal Reflux Disease
Leech T, Kelsell D, Blaydon D, Woodland P, Peiris M
Neurogastroenterology & Motility, Wiley vol. 37 (11) 

DOI 10.1111/nmo.70083

QMRO

20-05-2025

Special issue 100th anniversary Cell and Tissue Research
Korf H-W, Kelsell DP
Cell and Tissue Research, Springer Nature vol. 400 (2), 101-108.  

DOI 10.1007/s00441-025-03972-4

01-05-2025

2024

188 Is mouse paw skin a good model of human palmoplantar skin?
Del Caño LR, Dunnigan A, Evora A, Ahmad U
Journal of Investigative Dermatology, Elsevier vol. 144 (12) 

DOI 10.1016/j.jid.2024.10.195

01-12-2024

Celebrating 20 Years of the International Pachyonychia Congenita Consortium
Coulombe PA, Hansen D, Hickerson R, Hovnanian A, O'Toole EA, Kelsell DP, Evans H, Schwartz J et al.
Journal of Investigative Dermatology, Elsevier vol. 145 (4), 725-727.  

DOI 10.1016/j.jid.2024.07.033

28-10-2024

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.  

DOI 10.1093/bjd/ljae090.011

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.  

DOI 10.1093/bjd/ljae090.110

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.  

DOI 10.1093/bjd/ljae090.392

28-06-2024

Su1238 SUBSTANCE P AND NK1R – A NOVEL NEUROIMMUNE PATHWAY IN GASTRO-OESOPHAGEAL REFLUX DISEASE
Leech T, Peiris M, Woodland PJ, Kelsell D
Gastroenterology, Elsevier vol. 166 (5) 

DOI 10.1016/s0016-5085(24)02093-6

01-05-2024

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.  

DOI 10.1016/j.jid.2024.02.028

QMRO

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.  

DOI 10.1016/j.molcel.2023.12.012

QMRO

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.  

DOI 10.1016/j.gastha.2023.12.007

QMRO

26-12-2023

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.  

DOI 10.1016/j.jid.2023.10.030

QMRO

15-12-2023

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 

DOI 10.3389/fimmu.2023.1282577

QMRO

30-11-2023

A novel role for high mobility group box 1 (HMGB1) in gastro-oesophageal reflux disease
Leech T, Blaydon D, Woodland P
 
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.  

DOI 10.1093/bjd/ljac131

QMRO

20-12-2022

188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes
Ramos L, Yousaf Y, Kelsell D
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 

DOI 10.1016/j.jid.2022.09.199

01-12-2022

173 A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease
Murtough S, Del Caño LR, Delaney PJ, Webb CM, Colom B, Kelsell D
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 

DOI 10.1016/j.jid.2022.09.184

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) 

DOI 10.1016/j.jid.2022.09.109

01-12-2022

Obituary — Werner W. Franke
Unsicker K, Jockusch BM, Kelsell DP
Cell and Tissue Research, Springer Nature vol. 390 (3), 315-316.  

DOI 10.1007/s00441-022-03713-x

29-11-2022

ESDR173 - A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease
Murtough S, Ramos Del Caño L, Delaney P, Webb C, Colom B, Jones P, Kelsell D
, Morressier 

DOI 10.26226/m.62fa0094a32203001a2f3e44

22-09-2022

ESDR188 - CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes
Ramos L, Yousaf Y, Kelsell D
, Morressier 

DOI 10.26226/m.62fa009529d1b0001b31c44e

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 

DOI 10.26226/m.62fa0091165d7b0019592ab4

21-09-2022

2021

Modelling 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, 100062-100062.  

DOI 10.1016/j.xjidi.2021.100062

QMRO

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) 

DOI 10.1016/j.jid.2021.08.183

01-10-2021

Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy
Ng KE, Delaney PJ, Thenet D, Murtough S, Webb CM, Zaman N, Tsisanova E, Mastroianni G et al.
Cell and Tissue Research, Springer Nature vol. 386 (1), 79-98.  

DOI 10.1007/s00441-021-03488-7

QMRO

08-07-2021

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.
 

QMRO

01-01-2021

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.  

DOI 10.1016/j.jid.2020.09.010

QMRO

17-10-2020

Celebrating the 50th Anniversary of ESDR
Peltonen S, Eming SA, Griffiths CEM, Széll M, Kelsell D, De Rie MA
Journal of Investigative Dermatology, Elsevier vol. 140 (9), s145-s146.  

DOI 10.1016/j.jid.2020.02.043

01-09-2020

The Future of ESDR
Griffiths CEM, Széll M, Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 140 (9), s192-s193.  

DOI 10.1016/j.jid.2020.03.958

13-08-2020

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 

DOI 10.1172/JCI132987

QMRO

16-06-2020

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree
de Oliveira RTG, Christofolini DM, Criado PR, Martins EL, Kelsell D, Filho CDSM
International Journal of Dermatology, Wiley vol. 59 (6), 722-725.  

DOI 10.1111/ijd.14894

20-04-2020

Inherited skin disease
Maruthappu T, Kelsell DP
In Oxford Textbook of Medicine, Oxford University Press (Oup) 5602-5611.  

DOI 10.1093/med/9780198746690.003.0552

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

2019

423 Type 2 Immunity Linked to iRhom2 and Tylosis with Oesophageal Cancer
Murtough S, Webb CM, Chikh A, Picard HLD, Pink R, Wang J, Fitzgerald R, Risk J et al.
 

DOI 10.1016/j.jid.2019.07.425

01-09-2019

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.
 

DOI 10.1016/j.jid.2019.07.167

01-09-2019

630 iRHOM2 is a key regulator of the cytoskeletal stress response
McGinty LA, Blaydon D
 

DOI 10.1016/j.jid.2019.07.635

01-09-2019

247 A role for iRhom2 in pachyonychia congenita
Brooke MA, Kelsell DP
 

DOI 10.1016/j.jid.2019.07.248

01-09-2019

255 Palmoplantar skin and keratinocytes harbouring mutant AQP5 display dysregulated actin cytoskeleton
Blaydon D, Kelsell DP
 

DOI 10.1016/j.jid.2019.07.256

01-09-2019

261 Nucleocytoplasmic shuttling of iRHOM2 and its regulation of epidermal differentiation
Chikh A, Webb CM, Pink R
 

DOI 10.1016/j.jid.2019.07.262

01-09-2019

ADAM17-Mediated Reduction in CD14++CD16+ Monocytes ex vivo and Reduction in Intermediate Monocytes With Immune Paresis in Acute Pancreatitis and Acute Alcoholic Hepatitis
Waller K, James C, de Jong A, Blackmore L, Ma Y, Stagg A, Kelsell D, O'Dwyer M et al.
Frontiers in Immunology, Frontiers vol. 10 

DOI 10.3389/fimmu.2019.01902

27-08-2019

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö et al.
Cell and Tissue Research, Springer Nature vol. 378 (2), 267-277.  

DOI 10.1007/s00441-019-03077-9

07-08-2019

Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report
Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D et al.
European Journal of Heart Failure, Wiley vol. 21 (8), 955-964.  

DOI 10.1002/ejhf.1534

QMRO

18-06-2019

454 iRhom2-mediated immune dysregulation: Impact on the skin and oesophagus
Webb C, Murtough S, Chikh A, Picard HLD, Wang J, Pink R, Risk JM, Fitzgerald RC et al.
Journal of Investigative Dermatology, Elsevier vol. 139 (5) 

DOI 10.1016/j.jid.2019.03.530

01-05-2019

Marcel F. Jonkman, MD, PhD (1957–2019)
van den Akker PC, Bolling MC, Pasmooij AMG, Kelsell DP, Uitto J
Journal of Investigative Dermatology, Elsevier vol. 139 (5), 982-983.  

DOI 10.1016/j.jid.2019.02.017

01-05-2019

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.  

DOI 10.1111/bjd.17808

QMRO

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.  

DOI 10.1111/bjd.17796

QMRO

26-04-2019

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.  

DOI 10.1111/bjd.17388

QMRO

02-01-2019

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

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) 

DOI 10.1093/eurheartj/ehy566.p5709

QMRO

01-08-2018

Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes
KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N, VAN HEEL DA
Journal of Investigative Dermatology, Elsevier 

DOI 10.1016/j.jid.2018.05.013

QMRO

30-05-2018

A Novel Mechanism for Activation of GLI1 by Nuclear SMO That Escapes Anti-SMO Inhibitors
Rahman MM, Hazan A, Selway JL, Herath DS, Harwood CA, Pirzado MS, Atkar R, Kelsell DP et al.
Cancer Research, American Association For Cancer Research (Aacr) vol. 78 (10), 2577-2588.  

DOI 10.1158/0008-5472.can-17-2897

QMRO

14-05-2018

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
 

DOI 10.1016/j.jid.2018.03.670

01-05-2018

784 The p63 - iRHOM2 signalling axis in the keratinocyte stress response
Chikh A, Arcidiacono P, Webb C, Brooke M
Journal of Investigative Dermatology, Elsevier vol. 138 (5) 

DOI 10.1016/j.jid.2018.03.794

01-05-2018

Noonan syndrome with multiple lentigines and associated craniosynostosis
McDonald BS, Pigors M, Kelsell DP, O'Toole EA, Burkitt‐Wright E, Kerr B, Batta K
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 43 (3), 357-359.  

DOI 10.1111/ced.13329

QMRO

22-01-2018

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 iRHOM2 pathway in keratinocyte hyperproliferation
Webb CM, Arcidiacono P, Zhou H, Chikh A
 
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

2017

Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation
Puzzi L, Borin D, Martinelli V, Mestroni L, Kelsell DP, Sbaizero O
Micron, Elsevier vol. 106, 27-33.  

DOI 10.1016/j.micron.2017.12.005

QMRO

19-12-2017

A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID)
Russell MA, Pigors M, Houssen ME, Manson A, Kelsell D, Longhurst H, Morgan NG
Clinical Immunology, Elsevier vol. 187, 132-136.  

DOI 10.1016/j.clim.2017.11.007

QMRO

24-11-2017

A profile of lipid dysregulation in harlequin ichthyosis.
Ip SCI, Cottle DL, Jones LK, Weir JM, Kelsell DP, O'Toole EA, Meikle PJ, Smyth IM
Br J Dermatol vol. 177 (5), e217-e219.  

DOI 10.1111/bjd.15642

QMRO

01-11-2017

083 iRHOM2-p63 pathway mediates survival and redox balance in keratinocytes
Arcidiacono P, Webb CM, Chikh A
 

DOI 10.1016/j.jid.2017.07.393

01-10-2017

097 iRHOM2 regulation of loricrin in the epidermal barrier
McGinty L, Kelsell DP
 

DOI 10.1016/j.jid.2017.07.407

01-10-2017

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
ESDR 2017. 

DOI 10.1016/j.jid.2017.07.398

01-10-2017

086 Evidence for a palmoplantar-specific role for microtubules
Picard HLD, Blaydon D
Journal of Investigative Dermatology, Elsevier vol. 137 (10) 

DOI 10.1016/j.jid.2017.07.396

01-10-2017

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia
Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y et al.
Journal of Investigative Dermatology, Elsevier vol. 137 (11), 2344-2353.  

DOI 10.1016/j.jid.2017.06.028

QMRO

31-07-2017

Erratum: Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways
Wolf C, Qian Y, Brooke MA, Kelsell DP, Franzke C-W
Scientific Reports, Springer Nature vol. 7 (1) 

DOI 10.1038/srep41343

23-01-2017

Mutations in FAM83G cause autosomal recessive palmoplantar keratoderma with leuconychia and abundant curly hair
Maruthappu T, McGinty L, Braun K, Duit R, Sapkota G
 

QMRO

01-01-2017

Evidence for a palmoplantar-specific role for microtubules
Picard HLD, Kelsell DP
 
01-01-2017

2016

ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C γ1 and protein kinase C pathways
WOLF C, QIAN Y, BROOKE MA, KELSELL DP, FRANZKE CW
Scientific Reports, Nature Publishing Group: Open Access Journals - Option C vol. 6 

DOI 10.1038/srep39780

QMRO

22-12-2016

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
 

DOI 10.1016/j.jid.2016.06.198

01-09-2016

568 p63 regulation of the iRHOM2/ADAM17 pathway in keratinocytes
Arcidiacono P, Chikh A, Kelsell DP
 

DOI 10.1016/j.jid.2016.06.592

01-09-2016

126 iRHOM2 regulates Keratin 16, a Major Cytoskeletal Stress Keratin
Chikh A, Maruthappu T, Kelsell DP
 

DOI 10.1016/j.jid.2016.06.144

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, O’Toole E, McKenna WJ, Kelsell DP
 

DOI 10.1016/j.jid.2016.06.201

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
 

DOI 10.1016/j.jid.2016.06.151

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 

DOI 10.1016/j.ajhg.2016.06.004

QMRO

28-07-2016

New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report.
Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG, Kelsell DP
Mol Syndromol vol. 7 (3), 160-163.  

DOI 10.1159/000446619

QMRO

02-06-2016

Cover image: Unpeeling the layers of harlequin ichthyosis.
Harris AG, Choy C, Pigors M, Kelsell DP, Murrell DF
Br J Dermatol vol. 174 (5), 1160-1161.  

DOI 10.1111/bjd.14469

21-05-2016

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.
 

DOI 10.1016/j.jid.2016.02.413

01-05-2016

432 The iRHOM2-ADAM17 axis as a driver of epidermal hyperproliferation and inflammation
Brooke MA, Fell B
 

DOI 10.1016/j.jid.2016.02.467

01-05-2016

Cardiomyopathy diagnosed in the eldest child harboring p.S24X mutation in JUP.
Boente MD, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP
The British Journal of Dermatology 

DOI 10.1111/bjd.14617

01-04-2016

Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population.
Sawada G, Niida A, Uchi R, Hirata H, Shimamura T, Suzuki Y, Shiraishi Y, Chiba K et al.
Gastroenterology vol. 150 (5), 1171-1182.  

DOI 10.1053/j.gastro.2016.01.035

09-02-2016

Regulation of the iRhom2/ADAM17 pathway in keratinocytes
Arcidiacono P, Chikh A, Kelsell D
 
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

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

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, O'Toole EA, Batta K
Clinical and Experimental Dermatology, Oxford University Press (Oup) vol. 41 (4), 394-398.  

DOI 10.1111/ced.12777

18-12-2015

Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17
Maney SK, McIlwain DR, Polz R, Pandyra AA, Sundaram B, Wolff D, Ohishi K, Maretzky T et al.
Science Signaling, American Association For The Advancement of Science (Aaas) vol. 8 (401) 

DOI 10.1126/scisignal.aac5356

QMRO

03-11-2015

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms
Ellis A, Risk JM, Maruthappu T, Kelsell DP
Orphanet Journal of Rare Diseases, Springer Nature vol. 10 (1) 

DOI 10.1186/s13023-015-0346-2

QMRO

29-09-2015

Junctions in human health and inherited disease
Getsios S, Kelsell DP, Forge A
Cell and Tissue Research vol. 360 (3), 435-438.  

DOI 10.1007/s00441-015-2171-2

04-06-2015

Evolution of Electrocardiographic and Structural Features Over 3 Decades in Arrhythmogenic Cardiomyopathy
Abrams DJ, Kirkby C, Page SP, Earley MJ, Nitiou D, Kelsell DP, Schilling RJ
Circulation, Wolters Kluwer vol. 131 (25), 2233-2235.  

DOI 10.1161/circulationaha.115.014371

01-06-2015

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B
Bland PJ, Chronnell C, Kelsell DP
British Journal of Dermatology, Oxford University Press (Oup) vol. 173 (1), 285-287.  

DOI 10.1111/bjd.13627

18-05-2015

Junctions in human health and inherited disease
Getsios S, Kelsell DP, Forge A
Cell and Tissue Research, Springer Nature vol. 360 (3), 435-438.  

DOI 10.1007/s00441-015-2171-2

11-04-2015

Cell Cycle- and Cancer-Associated Gene Networks Activated by Dsg2: Evidence of Cystatin A Deregulation and a Potential Role in Cell-Cell Adhesion
Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP, Mahoney MG
Plos One, Public Library of Science (Plos) vol. 10 (3) 

DOI 10.1371/journal.pone.0120091

QMRO

18-03-2015

A novel frameshift MSX1 mutation in a Saudi family with autosomal dominant premolar and third molar agenesis
AlFawaz S, Plagnol V, Wong FSL
Archives of Oral Biology, Elsevier vol. 60 (7), 982-988.  

DOI 10.1016/j.archoralbio.2015.02.023

QMRO

03-03-2015

iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death
Notari M, Hu Y, Sutendra G, Dedeić Z, Lu M, Dupays L, Yavari A, Carr CA et al.
Proceedings of The National Academy of Sciences of The United States of America, Proceedings of The National Academy of Sciences vol. 112 (9), e973-e981.  

DOI 10.1073/pnas.1408111112

17-02-2015

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.  

DOI 10.1016/j.ajhg.2014.12.026

QMRO

12-02-2015

Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A
Gene vol. 556 (2), 254-256.  

DOI 10.1016/j.gene.2014.12.002

QMRO

10-02-2015

iRhom2: a novel regulator of wound healing and cancer
Maruthappu T, Chikh A
 
01-01-2015

iRhom2 regulation of ADAM17 as a key regulator of epithelial growth factor and proinflammatory cytokine signalling
Brooke M, Etheridge S, Fell B
 
01-01-2015

A novel peeling skin syndrome
Chinthapalli S, Buckley D, Lin Z, Nitoiu D, Kelsell D, O'Toole E
 
01-01-2015

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia
Salas-Alanis JC, Wozniak E, Mein CA, Mckinster CCD, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML et al.
Annals of Dermatology, Xmlink vol. 27 (4), 474-477.  

DOI 10.5021/ad.2015.27.4.474

QMRO

01-01-2015

Notch regulated inflammatory pathway in Cutaneous Squamous Cell Carcinoma
Arcidiacono P, Harwood C, Kelsell D
 
01-01-2015

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

In vitro Organotypic Wound Healing Model: the Role of iRHOM2 in Tylosis
Fell B, Maruthappu T, Chikh A
 
01-01-2015

2014

Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis
Aggarwal S, Kar A, Kelsell D
Gene, Elsevier vol. 556 (2), 254-256.  

DOI 10.1016/j.gene.2014.12.002

03-12-2014

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

DOI 10.1242/jcs.154633

15-10-2014

Exoming into rare skin disease: EGFR deficiency.
Brooke MA, O'Toole EA, Kelsell DP
J Invest Dermatol vol. 134 (10), 2486-2488.  

DOI 10.1038/jid.2014.228

01-10-2014

Discovery in genetic skin disease: the impact of high throughput genetic technologies.
Maruthappu T, Scott CA, Kelsell DP
Genes (Basel) vol. 5 (3), 615-634.  

DOI 10.3390/genes5030615

QMRO

04-08-2014

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.
Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'Toole EA, Ishida-Yamamoto A, Marches O, Getsios S et al.
Hum Mol Genet vol. 23 (15), 4064-4076.  

DOI 10.1093/hmg/ddu120

QMRO

01-08-2014

Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.
Nitoiu D, Etheridge SL, Kelsell DP
Cell Commun Adhes vol. 21 (3), 129-140.  

DOI 10.3109/15419061.2014.908854

01-06-2014

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.
Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP et al.
Gut vol. 63 (1), 96-104.  

DOI 10.1136/gutjnl-2012-303581

01-01-2014

Dissecting the regulation of the inactive rhomboid protein 2/ADAM17 pathway in keratinocyte differentiation and barrier function
Chikh A, Brooke M, Etheridge S
 
01-01-2014

In vitro Model for Tylosis: Dysregulation of ADAM17 in the Epidermis
Fell B, Brooke MA, Kelsell DP
 
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

iRhom2: a novel regulator of wound healing
Maruthappu T, Chikh A
 
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.
The American Journal of Human Genetics, Elsevier Bv vol. 93 (2), 330-335.  

DOI 10.1016/j.ajhg.2013.06.008

01-08-2013

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J, Kelsell DP
Arch Oral Biol vol. 58 (5), 462-466.  

DOI 10.1016/j.archoralbio.2012.12.008

01-05-2013

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene
Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J, Kelsell DP
Archives of Oral Biology vol. 58 (5), 462-466.  

DOI 10.1016/j.archoralbio.2012.12.008

01-05-2013

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.  

DOI 10.1038/jid.2012.332

01-02-2013

Current insights into protease dynamics in human epithelial disease and barrier function.
Curtis MA, Kelsell DP
Cell Tissue Res vol. 351 (2), 213-215.  

DOI 10.1007/s00441-013-1559-0

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.  

DOI 10.1007/s00441-012-1542-1

01-02-2013

Current insights into protease dynamics in human epithelial disease and barrier function
Curtis MA
Cell and Tissue Research vol. 351 (2), 213-215.  

DOI 10.1007/s00441-013-1559-0

01-02-2013

Connexin 26 facilitates gastrointestinal bacterial infection in vitro.
Simpson C, Kelsell DP, Marchès O
Cell Tissue Res vol. 351 (1), 107-116.  

DOI 10.1007/s00441-012-1502-9

01-01-2013

Connexin 26 facilitates gastrointestinal bacterial infection in vitro
Simpson C, Kelsell DP, Marchès O
Cell and Tissue Research vol. 351 (1), 107-116.  

DOI 10.1007/s00441-012-1502-9

01-01-2013

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.  

DOI 10.1038/jid.2012.332

01-01-2013

A missense mutation in the MBTPS2 gene underlies the x-linked form of olmsted syndrome
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N
Journal of Investigative Dermatology vol. 133 (2), 571-573.  

DOI 10.1038/jid.2012.289

01-01-2013

Gene expression profiling demonstrates that the effects of PTCH1 suppression are not fully reversed upon pharmacological inhibition of SMOOTHENED in human keratinocytes
Rahman M, Selway J, Herath D, Hazan A, Roy A, Langlands K, Edmunds S, Kelsell D et al.
 
01-01-2013

2012

Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene.
Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP et al.
Int J Cancer vol. 131 (3), E216-E226.  

DOI 10.1002/ijc.27333

01-08-2012

Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene
Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP et al.
International Journal of Cancer vol. 131 (3), E216-E226.  

DOI 10.1002/ijc.27333

01-08-2012

Connexins in epidermal homeostasis and skin disease
Scott CA, Tattersall D, O'Toole EA, Kelsell DP
Biochimica Et Biophysica Acta Biomembranes vol. 1818 (8), 1952-1961.  

DOI 10.1016/j.bbamem.2011.09.004

01-08-2012

The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes.
Cabral RM, Tattersall D, Patel V, McPhail GD, Hatzimasoura E, Abrams DJ, South AP, Kelsell DP
J Cell Sci vol. 125 (Pt 12), 2853-2861.  

DOI 10.1242/jcs.084152

15-06-2012

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.  

DOI 10.1016/j.ajhg.2011.12.008

10-02-2012

The authors reply
MacDonald TT, Kelsell DP
New England Journal of Medicine vol. 366 (2) 

DOI 10.1016/S2215-0366(16)00018-3

12-01-2012

Cell-cell connectivity: desmosomes and disease.
Brooke MA, Nitoiu D, Kelsell DP
J Pathol vol. 226 (2), 158-171.  

DOI 10.1002/path.3027

01-01-2012

Inflammatory Bowel Disease and ADAM17 Deletion REPLY
MacDonald TT, Harper JI
New England Journal of Medicine vol. 366 (2), 190-190.  

DOI 10.1056/NEJMc1113859

01-01-2012

High Throughput Sequencing: New Genes for Epithelial Disease
Kelsell DP
 
01-01-2012

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

In vitro modelling of basal cell carcinoma reveals a novel PTCH1-GLI1 signalling axis that is unresponsive to Smoothened inhibitors in human keratinocytes
Rahman M, Herath D, Selway J, Roy A, Nadendla S, Kelsell D, Harwood C, Philpott M et al.
 
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

A 33-Next generation sequencing in ARVC mutation detection and new genes for desmosomal-like disease
Kelsell DP
 
01-01-2012

Evolution of phenotype in three brothers with a homozygous mutation in desmoplakin
Mansouri Y, Nitoiu D, Kelsell D
 
01-01-2012

A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome
Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N
Journal of Investigative Dermatology 

DOI 10.1038/jid.2012.289

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

Characterisation and validation of insertions and deletions in 173 patient exomes.
Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J et al.
Plos One vol. 7 (12) 

DOI 10.1371/journal.pone.0051292

QMRO

01-01-2012

Rhomboid proteins: a role in keratinocyte proliferation and cancer
Etheridge SL, Brooke MA, Kelsell DP
Cell and Tissue Research, 1-7.  

DOI 10.1007/s00441-012-1542-1

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.  

DOI 10.1056/NEJMoa1100721

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.  

DOI 10.1016/j.ajhg.2011.09.001

07-10-2011

Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association
Matos TD, Simões-Teixeira H, Caria H, Cascão R, Rosa H, O′Neill A, Dias Ó, Andrea ME et al.
Genetics Research International, Hindawi vol. 2011 (1) 

DOI 10.4061/2011/827469

05-10-2011

p63 Mediates an Apoptotic Response to Pharmacological and Disease-Related ER Stress in the Developing Epidermis
Pyati UJ, Gjini E, Carbonneau S, Guo F, Kelsell DP
Dev Cell vol. 21 (3), 492-505.  

DOI 10.1016/j.devcel.2011.07.012

13-09-2011

Key functions for gap junctions in skin and hearing.
Scott CA, Kelsell DP
Biochem J vol. 438 (2), 245-254.  

DOI 10.1042/BJ20110278

01-09-2011

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

SNPing at the Epidermal Barrier
Kelsell DP
J Invest Dermatol vol. 131 (8), 1593-1595.  

DOI 10.1038/jid.2011.92

01-08-2011

Two siblings with atrichia congenita due to a splice-site mutation in the human hairless gene
Alsharqi A, Salim A, Kelsell DP
 
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.  

DOI 10.1001/archdermatol.2011.9

01-06-2011

Collodion Baby
O'Toole EA, Kelsell DP
In Harper S Textbook of Pediatric Dermatology Third Edition 1-4.  

DOI 10.1002/9781444345384.ch12

24-05-2011

Harlequin Ichthyosis
O'Toole EA, Kelsell DP
In Harper S Textbook of Pediatric Dermatology Third Edition 1-6.  

DOI 10.1002/9781444345384.ch13

24-05-2011

In vitro modelling of basal cell carcinoma reveals a novel PTCH1-GLI1 signalling axis that is independent of SMOOTHENED in human keratinocytes
Rahman MM, Kelsell DP, Philpott MP, Neill GW
 
11-04-2011

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

Cx31 and AP1S1: evidence for interaction and a common molecular link with erythrokeratoderma
Tattersall D, Kelsell DP
 
11-04-2011

Using next-generation sequencing to identify novel disease genes
Blaydon DC, Walne AJ, Plagnol V, Vulliamy T
 
11-04-2011

The DSPII splice variant is critical for desmosome-mediated HaCaT keratinocyte adhesion
Cabral RM, Tattersall D, Patel V, Hatzimasoura E, Abrams DJ
 
01-04-2011

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

Connexins in epidermal homeostasis and skin disease
Scott CA, Tattersall D, Kelsell DP
Biochimica Et Biophysica Acta - Biomembranes 

DOI 10.1016/j.bbamem.2011.09.004

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, Kelsell DP
Clin Exp Dermatol vol. 36 (1), 88-90.  

DOI 10.1111/j.1365-2230.2010.03945.x

01-01-2011

2010

Identification and characterisation of DSPla, a novel isoform of human desmoplakin
Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP
 
01-09-2010

Identification and characterization of DSPIa, a novel isoform of human desmoplakin
Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP
Cell Tissue Res vol. 341 (1), 121-129.  

DOI 10.1007/s00441-010-0989-1

QMRO

01-07-2010

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA et al.
J Invest Dermatol vol. 130 (6), 1543-1550.  

DOI 10.1038/jid.2010.7

01-06-2010

Inherited skin disease
Leigh IM, Kelsell DP
In Oxford Textbook of Medicine, Oxford University Press (Oup) 4593-4601.  

DOI 10.1093/med/9780199204854.003.2303

01-05-2010

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.  

DOI 10.1136/adc.2010.186338.31

01-04-2010

PTPRD microdeletions are associated with metastatic cutaneous squamous cell carcinoma
Lambert SR, Purdie K, Gulati A, Leigh IM, Kelsell DP, Harwood CA, Proby C
 
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

Desmosomal abnormalities in cardiocutaneous syndromes
Tattersall D, Cabral R, Toynbee M, Abrams D
 
01-04-2010

Identification of therapeutic and prognostic biomarkers in keratinocyte carcinogenesis
Gulati A, Harwood CA, Purdie K, Leigh IM, Kelsell DP, Proby CM
 
01-04-2010

2009

EKV mutant connexin 31 associated cell death is mediated by ER stress.
Tattersall D, Scott CA, Gray C, Zicha D, Kelsell DP
Hum Mol Genet vol. 18 (24), 4734-4745.  

DOI 10.1093/hmg/ddp436

QMRO

15-12-2009

Harlequin ichthyosis: prenatal diagnosis and a review of the clinical outcome of survivors
Rajpopat S, O'Toole EA, Kelsell DP
 
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

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.  

DOI 10.1111/j.1365-2133.2009.09050.x

01-05-2009

Upregulation of endoplasmic reticulum stress response in cells expressing skin disease-associated connexin 31 mutants
Scott CA, Tattersall D, Kelsell DP
 
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

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis.
Thomas AC, Tattersall D, Norgett EE, O'Toole EA, Kelsell DP
Am J Pathol vol. 174 (3), 970-978.  

DOI 10.2353/ajpath.2009.080860

01-03-2009

Connexins in Skin Biology
Aasen T
In Connexins, Springer Nature 307-321.  

DOI 10.1007/978-1-59745-489-6_14

01-01-2009

5 Human genetics
Court DS
In Medical Sciences, Elsevier 185-236.  

DOI 10.1016/b978-0-7020-2679-9.00005-4

01-01-2009

PTPRD deletion is associated with aggressive and metastatic cutaneous squamous cell carcinoma
Lambert S, Purdie K, Proby C
 
01-01-2009

2008

Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast.
Ellis PE, Cano SD, Fear M, Kelsell DP, Ghali L, Crow JC, Perrett CW, MacLean AB
Mod Pathol vol. 21 (10), 1192-1199.  

DOI 10.1038/modpathol.2008.50

01-10-2008

Syndromic disorders of the desmosome: Insight from within the skin
Kelsell DP
 
01-07-2008

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss
Matos TD, Caria H, Simoes-Teixeira H, Aasen T, Dias O
Hearing Res vol. 240 (1-2), 87-92.  

DOI 10.1016/j.heares.2008.03.004

01-06-2008

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

Gene expression profiling of cultured squamous cell carcinoma keratinocytes identifies a pattern of gene expression which predicts invasive capacity
South AP, Pourreyron C, Foerster J, Mao X, Purdie K, Hogan C, Mein C, Bruckner-Tuderman L
 
01-04-2008

Identification of therapeutic and prognostic biomarkers in keratinocyte carcinogenesis
Gulati A, Harwood CA, Purdie K, Kelsell DP, Proby CM
 
01-04-2008

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.  

DOI 10.1038/sj.jid.5701078

01-04-2008

A novel plakoglobin mutation reveals distinct roles for plakoglobin in heart and skin
Cabral RM, Winik BC, Mein C, Baselga P, Doplaing-Hepenstal PI, Boente MC, Kelsell DP, McGrath JA
 
01-04-2008

PTPRD as a candidate tumour suppressor gene in cutaneous squamous cell carcinoma
Lambert S, Purdie K, Kelsell DP, Harwood CA, Proby CM
 
01-04-2008

Connexins: non gap junction functions?
Tattersall D, Scott CA, Kelsell DP
 
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.  

DOI 10.1111/j.1365-2133.2007.08277.x

01-03-2008

2007

A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
Matos TD, Caria H, Simões-Teixeira H, Aasen T, Nickel R, Jagger DJ, O'Neill A, Kelsell DP et al.
J Med Genet vol. 44 (11), 721-725.  

DOI 10.1136/jmg.2007.050682

01-11-2007

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 et al.
J Membr Biol vol. 218 (1-3), 29-37.  

DOI 10.1007/s00232-007-9025-0

01-08-2007

Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis.
Purdie KJ, Lambert SR, Teh M-T, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM et al.
Genes Chromosomes Cancer vol. 46 (7), 661-669.  

DOI 10.1002/gcc.20447

01-07-2007

Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis
Kelsell DP, HARWOOD CA, Leigh IM, Proby CM, Purdie KJ, Teh MT, Lambert SR, Young BD et al.
Genes Chromosomes Cancer vol. 46, 661-669.  
01-07-2007

Analysis of wild-type and mutant connexin 31 reveals nongap junction functions and altered cell signalling
Tattersall D, Scott CA, Unsworth HC
 
01-05-2007

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

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SYK, Bodemer C, Prins C, Antille C, Saurat J-H et al.
Br J Dermatol vol. 156 (5), 1015-1019.  

DOI 10.1111/j.1365-2133.2007.07806.x

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

Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis
Purdie K, Lambert S, Teh M, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM et al.
 
01-05-2007

Identification of the molecular signatures in cutaneous squamous cell carcinoma excised from patients with recessive dystrophic epidermolysis bullosa by using integrated genomic techniques
Mao X, Pourreyron C, Purdie K, Holder MV, Baksh N, Wong T, Fassihi H, Volz A et al.
 
01-05-2007

R-spondins in cutaneous biology: Nails and cancer
Blaydon DC, Philpott MP, Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  

DOI 10.4161/cc.6.8.4136

15-04-2007

R-spondins in cutaneous biology: nails and cancer.
Blaydon DC, Philpott MP, Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  

DOI 10.4161/cc.6.8.4136

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

Identifying Mutations in Single Gene Disorders
Kelsell DP, Blaydon D, Mein CA
, 145-164.  

DOI 10.1002/9780470059180.ch7

21-03-2007

Erratum: Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (Journal of Cell Science vol. 120 (330-339))
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM et al.
Journal of Cell Science vol. 120 (5) 

DOI 10.1242/jcs.03421

01-03-2007

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (vol 120, pg 330, 2007)
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM et al.
J Cell Sci vol. 120 (5), 917-917.  

DOI 10.1242/jcs.03329

01-03-2007

Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
Unsworth HC, Aasen T, McElwaine S, Kelsell DP
Hum Mol Genet vol. 16 (2), 165-172.  

DOI 10.1093/hmg/ddl452

15-01-2007

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation.
Teh M-T, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM et al.
J Cell Sci vol. 120 (Pt 2), 330-339.  

DOI 10.1242/jcs.03329

15-01-2007

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.  

DOI 10.1038/sj.jid.5700455

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.  

DOI 10.1038/ng1883

01-11-2006

Allelic imbalances and chromosome 9p microdeletion demonstrated in cutaneous squamous cell carcinomas using single nucleotide polymorphism microarray analysis
Purdie K, Lambert S, Harwood C, Teh T, Kelsell D, Young B, Leigh I, Proby C
 
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

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

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis.
Rajpar SF, Cullup T, Kelsell DP
Br J Dermatol vol. 155 (1), 204-206.  

DOI 10.1111/j.1365-2133.2006.07291.x

01-07-2006

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.
Norgett EE, Lucke TW, Bowers B, Leigh IM
J Invest Dermatol vol. 126 (7), 1651-1654.  

DOI 10.1038/sj.jid.5700291

01-07-2006

Genetic and functional mechanisms of ABCA12-associated harlequin ichthyosis
Thomas AC, Norgett EE, Cullup T, Kelsell DP
 
01-07-2006

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) 

DOI 10.1016/s0151-9638(06)70980-2

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) 

DOI 10.1016/s0151-9638(06)77585-8

01-06-2006

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.
Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MVL, Bukauskas FF
Proc Natl Acad Sci U S A vol. 103 (13), 5213-5218.  

DOI 10.1073/pnas.0511091103

28-03-2006

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome.
Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E et al.
J Med Genet vol. 43 (2) 

DOI 10.1136/jmg.2005.032904

01-02-2006

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 et al.
J Invest Dermatol vol. 125 (5), 920-927.  

DOI 10.1111/j.0022-202X.2005.23919.x

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.  

DOI 10.1111/j.1365-2230.2005.01878.x

01-11-2005

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IPM, Weaver T
J Mol Diagn vol. 7 (4), 437-443.  

DOI 10.1016/S1525-1578(10)60574-0

01-10-2005

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event.
Teh M-T, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM et al.
Cancer Res vol. 65 (19), 8597-8603.  

DOI 10.1158/0008-5472.CAN-05-0842

01-10-2005

Genome-wide SNP Microarray Mapping in Basal Cell Carcinomas Unveils Uniparental Disomy as a Key Somatic Event
Philpott MP, KELSELL DP, Harwood C, Proby C, Blaydon D, Teh M-T, Foot NJ, Skoulakis S et al.
Cancer Research vol. 65, 8597-8603.  
01-10-2005

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

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.  

DOI 10.1086/429844

01-05-2005

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
 
01-04-2005

Missense FH mutations in multiple cutaneous and uterine leiomyomatosis and renal cell cancer
Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM
 
01-04-2005

Elucidation of connexin31 as a regulator of epidermal differentiation and tissue homeostasis
Aasen T, Kelsell DP
 
01-04-2005

The gap junction protein connexin 31 regulates key aspects of cell differentiation
Aasen T, Unsworth H, Di W
 
01-04-2005

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
Di W-L, Gu Y, Common JEA, Aasen T, O'Toole EA, Kelsell DP, Zicha D
J Cell Sci vol. 118 (Pt 7), 1505-1514.  

DOI 10.1242/jcs.01733

01-04-2005

Mutations in ABCA12 underlie harlequin ichthyosis
Kelsell DP, Norgett E, Unsworth H, Teh M, Cullop T, Dale B, Leigh IM, Eady RA et al.
 
01-04-2005

Evidence for a key role of Connexin 26 in early epidermal differentiation
Common JEA, Thomas AC
 
01-04-2005

Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.
Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I et al.
Arch Dermatol vol. 141 (2), 199-206.  

DOI 10.1001/archderm.141.2.199

01-02-2005

2004

Connexin mutations in human disease.
Kelsell DP
Exp Dermatol vol. 13 (10), 661-662.  

DOI 10.1111/j.0906-6705.2004.0250f.x

01-10-2004

Towards a mutant map of the mouse - new models of neurological, behavioural, deafness, bone, renal and blood disorders
Rastan S, Hough T, Kierman A, Hardisty R, Erven A, Gray IC, Voeling S, Isaacs A et al.
 

DOI 10.1007/s10709-004-1930-x

01-09-2004

Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing.
Gu Y, Di WL, Kelsell DP, Zicha D
J Microsc vol. 215 (Pt 2), 162-173.  

DOI 10.1111/j.0022-2720.2004.01365.x

01-08-2004

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.
Common JEA, Di W-L, Kelsell DP
J Med Genet vol. 41 (7), 573-575.  

DOI 10.1136/jmg.2003.017632

01-07-2004

Hereditary 'white nails': a genetic and structural study.
Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP, Haftek M
Br J Dermatol vol. 151 (1), 65-72.  

DOI 10.1111/j.1365-2133.2004.05994.x

01-07-2004

p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma.
Brown VL, Harwood CA, Crook T, Cronin JG, Kelsell DP, Proby CM
J Invest Dermatol vol. 122 (5), 1284-1292.  

DOI 10.1111/j.0022-202X.2004.22501.x

01-05-2004

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.
Skerrett IM, Di W-L, Kasperek EM, Kelsell DP, Nicholson BJ
Faseb J vol. 18 (7), 860-862.  

DOI 10.1096/fj.03-0763fje

01-05-2004

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.
Langan JE, Cole CG, Huckle EJ, Byrne S, McRonald FE, Rowbottom L, Ellis A, Shaw JM et al.
Hum Genet vol. 114 (6), 534-540.  

DOI 10.1007/s00439-004-1100-3

01-05-2004

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.
Skerrett IM, Di WL, Kasperek EM, Kelsell DP, Nicholson BJ
Faseb Journal Official Publication of The Federation of American Societies For Experimental Biology vol. 18 (7), 860-862.  

DOI 10.1096/fj.03-0763fje

01-01-2004

Towards a mutant map of the mouse – new models of neurological, behavioural, deafness, bone, renal and blood disorders
Rastan S, Hough T, Kierman A, Hardisty R, Erven A, Gray IC, Voeling S, Isaacs A et al.
In Mutagenesis of The Mouse Genome, Springer Nature 47-49.  

DOI 10.1007/978-1-4020-5057-2_5

01-01-2004

2003

Germline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instability.
Alam NA, Gorman P, Jaeger EEM, Kelsell D, Leigh IM, Ratnavel R, Murdoch ME, Houlston RS et al.
Cancer Genet Cytogenet vol. 147 (2), 121-127.  

DOI 10.1016/s0165-4608(03)00196-1

01-12-2003

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13.
Hatsell SJ, Stevens H, Jackson AP, Kelsell DP, Zvulunov A
Br J Dermatol vol. 149 (1), 174-180.  

DOI 10.1046/j.1365-2133.2003.05386.x

01-07-2003

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.  

DOI 10.1080/714040451

01-07-2003

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E et al.
Hum Mol Genet vol. 12 (11), 1241-1252.  

DOI 10.1093/hmg/ddg148

01-06-2003

Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas.
Edmunds SC, Cree IA, Dí Nícolantonío F, Hungerford JL, Hurren JS, Kelsell DP
Br J Cancer vol. 88 (9), 1403-1405.  

DOI 10.1038/sj.bjc.6600919

QMRO

06-05-2003

Dysregulation of p16(INK4a) and p14(ARF) tumour suppressor genes in the pathogenesis of cutaneous squamous cell carcinomas
Brown VL, Harwood CA, Kelsell DP, Proby CM
 
01-04-2003

Cell death is characteristic of skin disease-associated connexin 31 mutations
Kelsell D, Di WL, Monypenny J, Common J
 
01-04-2003

Genetic and immunohistochemical investigation of tight junction proteins in normal and hyperproliferative skin
Norgett EE, Leigh IM
 
01-04-2003

Cellular mechanisms of mutant connexins in skin disease and hearing loss.
Common JEA, Di W-L, Davies D, Galvin H, Leigh IM, O'Toole EA, Kelsell DP
 

DOI 10.1080/cac.10.4-6.347.351

01-01-2003

2002

Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength.
Huen AC, Park JK, Godsel LM, Chen X, Bannon LJ, Amargo EV, Hudson TY, Mongiu AK et al.
J Cell Biol vol. 159 (6), 1005-1017.  

DOI 10.1083/jcb.200206098

QMRO

23-12-2002

Double jeopardy: Ras and CDK4 co-expression in skin cancer.
Edmunds SC, Kelsell DP
Trends Mol Med vol. 8 (12) 

DOI 10.1016/s1471-4914(02)02446-2

01-12-2002

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
Common JEA, Becker D, Di W-L, Leigh IM, O'Toole EA, Kelsell DP
Biochem Biophys Res Commun vol. 298 (5), 651-656.  

DOI 10.1016/s0006-291x(02)02517-2

15-11-2002

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus.
Risk JM, Evans KE, Jones J, Langan JE, Rowbottom L, McRonald FE, Mills HS, Ellis A et al.
Oncogene vol. 21 (41), 6395-6402.  

DOI 10.1038/sj.onc.1205768

12-09-2002

Mutational analysis of selected genes in the TGFbeta, Wnt, pRb, and p53 pathways in primary uveal melanoma.
Edmunds SC, Kelsell DP, Hungerford JL, Cree IA
Invest Ophthalmol Vis Sci vol. 43 (9), 2845-2851.  
01-09-2002

Defective trafficking and cell death are characteristic of skin disease-associated connexin 31 mutations in keratinocytes
Di WL, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Leigh IM, Zicha D
J Invest Dermatol vol. 119 (3), 745-745.  
01-09-2002

Mechanisms of inactivation of p16(INK4a) & p14(ARF) in cutaneous squamous cell carcinoma
Brown VL, Harwood CA, Crook T, Kelsell DP, Proby CM
J Invest Dermatol vol. 119 (3), 752-752.  
01-09-2002

Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
Di W-L, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Leigh IM, Rugg EL, Zicha D et al.
Hum Mol Genet vol. 11 (17), 2005-2014.  

DOI 10.1093/hmg/11.17.2005

15-08-2002

Defective trafficking and cell death is characteristic of skin disease-associated Connexin 31 mutations
KELSELL DP, Leigh IM, Rugg EL, Monypenny J, Di WL, Zicha DI
Human Molecular Genetics. vol. 11 (17), 2005-2014.  
01-08-2002

Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours.
Brown VL, Proby CM, Barnes DM, Kelsell DP
Br J Cancer vol. 87 (2), 208-211.  

DOI 10.1038/sj.bjc.6600418

QMRO

15-07-2002

Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.
Rugg EL, Common JEA, Wilgoss A, Stevens HP, Buchan J, Leigh IM, Kelsell DP
Br J Dermatol vol. 146 (6), 952-957.  

DOI 10.1046/j.1365-2133.2002.04764.x

01-06-2002

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
Gottfried I, Landau M, Glaser F, Di W-L, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP et al.
Hum Mol Genet vol. 11 (11), 1311-1316.  

DOI 10.1093/hmg/11.11.1311

15-05-2002

Genetic and functional analysis of connexins in skin disease and deafness.
Common JEA, Di W
 
01-05-2002

Functional analyses of connexin mutations in keratinocytes (vol 117, pg 775, 2001)
Kelsell DP, Di W, Common JEA, Holland KA
J Invest Dermatol vol. 118 (4), 741-741.  
01-04-2002

Errata
Journal of Investigative Dermatology, Elsevier vol. 118 (4), 741-742.  

DOI 10.1046/j.1523-1747.2002.01748.x

01-04-2002

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IPM, Alam NA, Rowan AJ, Barclay E, Jaeger EEM, Kelsell D, Leigh I, Gorman P et al.
Nat Genet vol. 30 (4), 406-410.  

DOI 10.1038/ng849

01-04-2002

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective tracking of the connexin 31 protein.
KELSELL DP, Avraham KB, Ophir J, Glaser F, Gottfried I, Ben-Tal N, Landau M
Human Molecular Genetics vol. 11 (11), 1311-1316.  
01-01-2002

SPINK5: both rare and common skin disease.
Norgett EE
Trends Mol Med vol. 8 (1) 

DOI 10.1016/s1471-4914(01)02228-6

01-01-2002

2001

Microarray and proteomic analysis of early gene regulation following exposure to skin irritants
Fletcher ST, Fentem JH, Basketter DA, Kelsell DP, Philpott M, Baker VA
Toxicology vol. 168 (1), 101-102.  
01-11-2001

Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31.
Di WL, Rugg EL, Leigh IM, Kelsell DP
J Invest Dermatol vol. 117 (4), 958-964.  

DOI 10.1046/j.0022-202x.2001.01468.x

01-10-2001

Spotting prostate cancer.
Neill GW
Trends Mol Med vol. 7 (10) 

DOI 10.1016/s1471-4914(01)02160-8

01-10-2001

The identification of mutations in keratin 9 using denaturing high performance liquid chromatography
Rugg EL, Wilgoss A, Leigh IM, Kelsell DP
J Invest Dermatol vol. 117 (3), 779-779.  
01-09-2001

Functional analyses of connexin mutations in keratinocytes
Kelsell DP, Di W, Common JEA, Rugg EL
J Invest Dermatol vol. 117 (3), 775-775.  
01-09-2001

Heterogeneity of genetic mutations in erythrokeratodermas
O'Toole EA, Di WL, Common J
J Invest Dermatol vol. 117 (3), 797-797.  
01-09-2001

Microarray analysis of gene expression following exposure to skin irritants
Fletcher S, Baker V, Fentem J
J Invest Dermatol vol. 117 (2), 528-528.  
01-08-2001

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.
Rickard S, Kelsell DP, Sirimana T, MacArdle B
J Med Genet vol. 38 (8), 530-533.  

DOI 10.1136/jmg.38.8.530

01-08-2001

Genetic analysis of the connexin-26 M34T variant
Griffith AJ
Journal of Medical Genetics, Bmj vol. 38 (7) 

DOI 10.1136/jmg.38.7.e24

01-07-2001

The two-hybrid cancer suicide pill
Fear MW, Kelsell DP
Trends in Molecular Medicine, Elsevier vol. 7 (5) 

DOI 10.1016/s1471-4914(01)01987-6

01-05-2001

Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E et al.
Am J Hum Genet vol. 68 (5), 1264-1269.  

DOI 10.1086/320124

01-05-2001

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP
J Invest Dermatol vol. 116 (4), 606-609.  

DOI 10.1046/j.1523-1747.2001.13041234.x

01-04-2001

Connexin mutations in skin disease and hearing loss.
Kelsell DP, Di WL, Houseman MJ
Am J Hum Genet vol. 68 (3), 559-568.  

DOI 10.1086/318803

01-03-2001

Whats new in genodermatoses?
Fear MW, Hatsell SJ, Leigh IM, Kelsell DP
Keio J Med vol. 50 (1), 35-38.  

DOI 10.2302/kjm.50.35

01-03-2001

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK et al.
Eur J Hum Genet vol. 9 (3), 197-203.  

DOI 10.1038/sj.ejhg.5200605

01-03-2001

Identification Of Two New Pmp22 Mouse Mutants Using Large‐Scale Mutagenesis And A Novel Rapid Mapping Strategy
Isaacs A, Davies K, Hunter A, Nolan P, Vizor L, Peters J, Gale D, Kelsell D et al.
Journal of The Peripheral Nervous System, Wiley vol. 6 (1), 65-65.  

DOI 10.1046/j.1529-8027.2001.01008-19.x

01-03-2001

Connexin 26 expression and mutation analysis in epidermal disease
Di WL, Common JEA, Kelsell DP
Cell Communication and Adhesion vol. 8 (4-6), 415-418.  

DOI 10.3109/15419060109080763

01-01-2001

Human diseases: clues to cracking the connexin code?
Kelsell DP, Dunlop J, Hodgins MB
Trends Cell Biol vol. 11 (1), 2-6.  

DOI 10.1016/s0962-8924(00)01866-3

01-01-2001

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Reply
Kelsell D
Eur J Hum Genet vol. 9 (1), 70-70.  

DOI 10.1038/sj.ejhg.5200569

01-01-2001

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
López-Bigas N, Arbonés ML, Estivill X
Eur J Hum Genet vol. 9 (1) 

DOI 10.1038/sj.ejhg.5200569

01-01-2001

Gene expression analysis of EpiDerm following exposure to SLS using cDNA microarrays.
Fletcher ST, Baker VA, Fentem JH, Basketter DA, Kelsell DP
 

DOI 10.1016/s0887-2333(01)00042-x

01-01-2001

Connexin 26 expression and mutation analysis in epidermal disease.
Di WL, Common JE, Kelsell DP
Cell Commun Adhes vol. 8 (4-6), 415-418.  

DOI 10.3109/15419060109080763

01-01-2001

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.
Davies D, KELSELL DP, Common JEA
Journal of Medical Genetics. vol. 41, 573-575.  
01-01-2001

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR et al.
J Med Genet vol. 38 (1), 20-25.  

DOI 10.1136/jmg.38.1.20

01-01-2001

2000

Recessive mutation in desmoplakin disrupts desmoplakin/intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.
Kelsell DP, Norgett EE, Hatsell SJ, Common JEA, Cabezas JCR, Carvajal-Huerta L, Leigh IM
J Invest Dermatol vol. 115 (6), 1170-1170.  
01-12-2000

A case of erythrokeratoderma variabilis without mutations in connexin 31
Ishida-Yamamoto A, Kelsell D, Common J, Hashimoto M, Shibaki H, Asano K, Takahashi H, Hashimoto Y et al.
Brit J Dermatol vol. 143 (6), 1283-1287.  

DOI 10.1046/j.1365-2133.2000.03902.x

01-12-2000

Connexin 26 expression and mutation analysis in epidermal disease
Di WL, Common JEA, Kelsell DP
Cell Adhesion and Communication vol. 8 (4-6), 415-418.  
01-12-2000

Wnt-16a, a Novel Wnt-16 Isoform, Which Shows Differential Expression in Adult Human Tissues
Fear MW, Kelsell DP, Spurr NK, Barnes MR
Biochemical and Biophysical Research Communications, Elsevier vol. 278 (3), 814-820.  

DOI 10.1006/bbrc.2000.3852

01-11-2000

Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas J-CR, Common J, Purkis PE, Whittock N, Leigh IM et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 9 (18), 2761-2766.  

DOI 10.1093/hmg/9.18.2761

01-11-2000

Mutations in GJB6 cause hidrotic ectodermal dysplasia
Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C et al.
Nature Genetics, Springer Nature vol. 26 (2), 142-144.  

DOI 10.1038/79851

01-10-2000

Genetic basis of psoriasis
Kelsell DP
Trends in Molecular Medicine, Elsevier vol. 6 (8) 

DOI 10.1016/s1357-4310(00)01750-0

01-08-2000

Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 9 (12), 1865-1871.  

DOI 10.1093/hmg/9.12.1865

22-07-2000

The diffuse palmoplantar keratodermas
Hatsell SJ, Kelsell DP
Acta Dermatovenerologica Alpina Panonica Et Adriatica vol. 9 (2), 47-55.  
18-07-2000

Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
Kelsell DP, Wilgoss AL, Stevens HP
European Journal of Human Genetics, Springer Nature vol. 8 (6), 468-468.  

DOI 10.1038/sj.ejhg.5200510

01-06-2000

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
Kibar Z, Dubé M-P, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U et al.
European Journal of Human Genetics, Springer Nature vol. 8 (5), 372-380.  

DOI 10.1038/sj.ejhg.5200471

01-05-2000

CIMPle cancer genetic profiles
Kelsell DP
Trends in Molecular Medicine, Elsevier vol. 6 (4) 

DOI 10.1016/s1357-4310(00)01711-1

01-04-2000

Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping
Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé J-L, Paradisi M et al.
American Journal of Human Genetics, Elsevier vol. 66 (3), 914-921.  

DOI 10.1086/302824

01-03-2000

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM
European Journal of Human Genetics, Springer Nature vol. 8 (2), 141-144.  

DOI 10.1038/sj.ejhg.5200407

01-02-2000

Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism
Talas U, Dunlop J, Khalaf S, Leigh IM, Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 114 (1), 165-170.  

DOI 10.1046/j.1523-1747.2000.00825.x

01-01-2000

Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer
Hanby AM, Kelsell DP, Potts HW, Gillett CE, Bishop DT, Spurr NK, Barnes DM
International Journal of Cancer, Wiley vol. 88 (2), 204-208.  

DOI 10.1002/1097-0215(20001015)88:2<204::aid-ijc9>3.0.co;2-1

01-01-2000

Disruption of desmoplakin/intermediate filament interactions results in keratoderma, woolly hair and cardiomyopathy.
Hatsell SJ, Norgett EE, Common JEA, Carvajal-Huerta L
 
01-01-2000

1999

Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis
Wilgoss A, Leigh IM, Kelsell DP, Barnes MR, Dopping-Hepenstal P, Eady RAJ, Walter JM, Kennedy CTC
Journal of Investigative Dermatology, Elsevier vol. 113 (6), 1119-1122.  

DOI 10.1046/j.1523-1747.1999.00792.x

01-12-1999

Fine genetic mapping of diffuse non‐epidermolytic palmoplantar keratoderma to chromosome 12q11‐q13: exclusion of the mapped type II keratins
Kelsell DP, Stevens HP, Purkis PE, Talas U
Experimental Dermatology, Wiley vol. 8 (5), 388-391.  

DOI 10.1111/j.1600-0625.1999.tb00387.x

01-10-1999

Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25
Risk JM, Ruhrberg C, Hennies H-C, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM et al.
Genomics, Elsevier vol. 59 (2), 234-242.  

DOI 10.1006/geno.1999.5857

01-07-1999

N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma
Rickman L, Šimrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RAJ, Leigh IM et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 8 (6), 971-976.  

DOI 10.1093/hmg/8.6.971

01-06-1999

Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia
Stevens HP, Choon SE, Hennies HC
British Journal of Dermatology, Oxford University Press (Oup) vol. 140 (5), 963-964.  

DOI 10.1046/j.1365-2133.1999.02837.x

01-05-1999

The palmoplantar keratodermas: much more than palms and soles
Kelsell DP, Stevens HP
Trends in Molecular Medicine, Elsevier vol. 5 (3), 107-113.  

DOI 10.1016/s1357-4310(98)01428-2

01-03-1999

A large scale mouse genetics programme to identify new phenotypes of relevance to human disease.
Gray IC, Bouzyk M, Kelsell D, Gale D, Latham I, Chase J, Ng SK, Nolan P et al.
 
01-01-1999

Gap junction mutations in skin disease and deafness: genotype versus phenotype
Kelsell D, Wilgoss A, Leigh IM
 
01-01-1999

1998

Connexin mutations in deafness
White TW, Deans MR, Kelsell DP, Paul DL
Nature, Springer Nature vol. 394 (6694), 630-631.  

DOI 10.1038/29202

01-08-1998

Tissue Restricted Expression of Two Human Frzbs in Preadipocytes and Pancreas Volume 247, Number 2 (1998), pages 287–293
Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L, Brooks D
Biochemical and Biophysical Research Communications, Elsevier vol. 248 (3), 940-943.  

DOI 10.1006/bbrc.1998.9014

01-07-1998

Tissue Restricted Expression of Two Human Frzbs in Preadipocytes and Pancreas
Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L, Brooks D
Biochemical and Biophysical Research Communications, Elsevier vol. 247 (2), 287-293.  

DOI 10.1006/bbrc.1998.8784

01-06-1998

Consortium study on 1280 breast carcinomas: allelic loss on chromosome 17 targets subregions associated with family history and clinical parameters.
Phelan CM, Borg A, Cuny M, Crichton DN, Baldersson T, Andersen TI, Caligo MA, Lidereau R et al.
Cancer Research vol. 58 (5), 1004-1012.  
01-03-1998

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H et al.
Journal of Medical Genetics, Bmj vol. 35 (2) 

DOI 10.1136/jmg.35.2.151

01-02-1998

1997

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM
Nature, Springer Nature vol. 387 (6628), 80-83.  

DOI 10.1038/387080a0

01-05-1997

Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families
Xu C, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S, Spurr NK, Bishop DT
Genes Chromosomes and Cancer, Wiley vol. 18 (2), 102-110.  

DOI 10.1002/(sici)1098-2264(199702)18:2<102::aid-gcc4>3.0.co;2-6

01-02-1997

Gene mapping using somatic cell hybrids.
Kelsell DP
vol. 68, 45-52.  

DOI 10.1385/0-89603-482-8:45

01-01-1997

1996

Gene Mapping Using Somatic Cell Hybrids
Kelsell DP
In Gene Isolation and Mapping Protocols, Springer Nature 45-52.  

DOI 10.1385/0-89603-482-8:45

19-10-1996

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
Smith FJD, Eady RAJ, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK et al.
Nature Genetics, Springer Nature vol. 13 (4), 450-457.  

DOI 10.1038/ng0896-450

01-08-1996

Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC )
Kelsell DP, Risk JM, Stevens HP, Ellis A, Reis A, Weissenbach J, Bishop DT
Human Molecular Genetics, Oxford University Press (Oup) vol. 5 (6), 857-860.  

DOI 10.1093/hmg/5.6.857

01-06-1996

Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas
Kelsell DP, Spurr NK, Barnes DM, Gusterson B
The Lancet, Elsevier vol. 347 (9014), 1554-1555.  

DOI 10.1016/s0140-6736(96)90707-2

01-06-1996

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
Stevens HP, Kelsell DP, Bryant SP, Spurr NK, Marger D
Jama Dermatology, American Medical Association (Ama) vol. 132 (6), 640-651.  

DOI 10.1001/archderm.1996.03890300056010

01-06-1996

Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
Stevens HP, Kelsell DP, Bishop DT, Dawber RPR, Leigh IM
Journal of Investigative Dermatology, Elsevier vol. 106 (4), 795-797.  

DOI 10.1111/1523-1747.ep12346400

01-04-1996

Punctate palmoplantar keratoderma and malignancy in a four-generation family
STEVENS HP, KELSKLL DP, LEIGH IM, RUSTIN MHA
British Journal of Dermatology, Oxford University Press (Oup) vol. 134 (4), 720-726.  

DOI 10.1111/j.1365-2133.1996.tb06978.x

01-04-1996

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.
Neuhausen SL, Mazoyer S, Friedman L, Stratton M, Offit K, Caligo A, Tomlinson G, Cannon-Albright L et al.
American Journal of Human Genetics vol. 58 (2), 271-280.  
01-02-1996

Identification of the breast cancer susceptibility gene BRCA2
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S et al.
Nature, Springer Nature vol. 379 (6567), 749-749.  

DOI 10.1038/379749a0

01-02-1996

Thiopurine Methyltransferase Pharmacogenetics: Human Gene Cloning and Characterization of a Common Polymorphism
Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L et al.
Dna and Cell Biology, Mary Ann Liebert vol. 15 (1), 17-30.  

DOI 10.1089/dna.1996.15.17

01-01-1996

Close range mapping of the tylosis oesophageal cancer gene (TOGG) to chromosome 17q.
Risk JM, Kelsell DP, Bishop DT, Ellis A
 
01-01-1996

1995

Identification of the breast cancer susceptibility gene BRCA2
Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S et al.
Nature, Springer Nature vol. 378 (6559), 789-792.  

DOI 10.1038/378789a0

01-12-1995

High allele loss rates at I7q I2‐q2I in breast and ovarian tumors from BRCAI‐linked families
Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BAJ, Tonin P, Hamann U et al.
Genes Chromosomes and Cancer, Wiley vol. 13 (3), 203-210.  

DOI 10.1002/gcc.2870130310

01-07-1995

Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping
KELSELL DP, ROOKE L, WARNE D, BOUZYK M, CULLIN L, POVEY S
Annals of Human Genetics, Wiley vol. 59 (2), 233-241.  

DOI 10.1111/j.1469-1809.1995.tb00743.x

01-04-1995

An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.
Narod SA, Ford D, Devilee P, Barkardottir RB, Lynch HT, Smith SA, Weber BL
American Journal of Human Genetics vol. 56 (1), 254-264.  
01-01-1995

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity
Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT
Human Molecular Genetics, Oxford University Press (Oup) vol. 4 (6), 1021-1025.  

DOI 10.1093/hmg/4.6.1021

01-01-1995

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Keisell DP, McLean WHI, Cook LJ et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 4 (10), 1875-1881.  

DOI 10.1093/hmg/4.10.1875

01-01-1995

Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
Easton DF, Ford D, Bishop DT
American Journal of Human Genetics vol. 56 (1), 265-271.  
01-01-1995

1994

Risks of cancer in BRCA1-mutation carriers
Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE
The Lancet, Elsevier vol. 343 (8899), 692-695.  

DOI 10.1016/s0140-6736(94)91578-4

01-03-1994

1993

Localization of a Second NM23 Gene, NME2, to Chromosome 17q21-q22
Kelsell DP, Black DM, Solomon E, Spurr NK
Genomics, Elsevier vol. 17 (2), 522-524.  

DOI 10.1006/geno.1993.1362

01-08-1993

Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17.
Spurr NK, Kelsell DP, Black DM, Murday VA, Turner G, Crockford GP, Solomon E, Bishop DT
American Journal of Human Genetics vol. 52 (4), 777-785.  
01-04-1993

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.
Easton DF, Bishop DT, Ford D, Crockford GP
American Journal of Human Genetics vol. 52 (4), 678-701.  
01-04-1993

Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1
Keisell DP, Black DM, Bishop DT, Spurr NK
Human Molecular Genetics, Oxford University Press (Oup) vol. 2 (11), 1823-1828.  

DOI 10.1093/hmg/2.11.1823

01-01-1993

1991

Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms
SPURR NK, KELSELL D, ROOKE L, CAVALLI‐SFORZA LL, BOWCOCK A, FEDER J
Annals of Human Genetics, Wiley vol. 55 (2), 141-150.  

DOI 10.1111/j.1469-1809.1991.tb00407.x

01-05-1991

1990

N‐Cadherin Gene Maps to Human Chromosome 18 and Is Not Linked to the E‐Cadherin Gene
Walsh FS, Barton CH, Putt W, Moore SE, Kelsell D, Spurr N, Goodfellow PN
Journal of Neurochemistry, Wiley vol. 55 (3), 805-812.  

DOI 10.1111/j.1471-4159.1990.tb04563.x

01-09-1990

An Xmnl RFLP detected with a probe for the CYP2E gene locus on chromosome 10
Kelsell DP, Wolf CR
Nucleic Acids Research, Oxford University Press (Oup) vol. 18 (10), 3111-3111.  

DOI 10.1093/nar/18.10.3111

01-01-1990

Association of RhoGEF Ect2 with Desmoplakin Supports RhoA Activity at Intercellular Junctions: Implications for Carvajal Disease
In Biorxiv 

DOI 10.1101/2025.05.21.655405

DNAJC21 mutations link a cancer prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation
DOKAL I, Tummala, Vulliamy
American Journal of Human Genetics 

DOI 10.1016/j.ajhg.2016.05.002

QMRO

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 

DOI 10.1038/ncomms14174

QMRO

Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair
Journal of Investigative Dermatology, Elsevier 

DOI 10.1016/j.jid.2017.10.031

QMRO

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response
KELSELL DP, CHIKH A
Nature Communications 

DOI 10.1038/s41467-018-03470-y

QMRO

Early cardiac inflammation as a driver of murine model of Arrhythmogenic Cardiomyopathy
Ng KE, Delaney PJ, Thenet D, Murtough S, Webb CM, Tsisanova E, Walker SLM, Westaby JD et al.
In Biorxiv 

DOI 10.1101/2020.06.24.169664

Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signalling pathway
In Biorxiv 

DOI 10.1101/2022.11.28.518246

Deep palmar phenotyping in atopic eczema: patterns associated with Filaggrin variants, disease severity and barrier function in a South Asian population
O'Toole E
British Journal of Dermatology, Oxford University Press 

DOI 10.1093/bjd/ljad036

QMRO

Grants

Grants of specific relevance to Predictive in vitro Models

Role of Keratins and Keratin Regulators in Thymus
Ines Sequeira and David Kelsell
£74,521 Barts and the London Charity
06-05-2025 - 05-05-2026

Dissecting 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

Targeting epigenetic gene regulation in epidermolysis bullosa simplex
John Connelly, Julien Gautrot and David Kelsell
£199,751 Action Medical Research
01-06-2023 - 31-05-2026

Towards an in vitro model for studying Pachyonychia Congenita
Diana Blaydon and David Kelsell
£144,581 Pachyonychia Congenita Project
01-01-2023 - 31-12-2025

A Centre of Excellence for Squamous Cancer
Paul Coulthard, David Kelsell, Catherine Harwood, Adrian Biddle, Jun Wang and Tracy Connelly
£2,675,828 Barts and the London Charity
01-04-2021 - 31-01-2028

The Rising Stars Program
Mauro Perretti and David Kelsell
£6,137,969 Barts and the London Charity
01-01-2019 - 31-12-2025

---

Exploring morphological and transcriptomic changes occurring in a murine model of desmoplakin-associated cardiocutaneous disease
David Kelsell
£6,755 Barts and the London Charity
01-10-2024 - 31-10-2025

Switching 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

Dissecting 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

The APPLE Study – A Cross-sectional Observational Study Examining the influence of Diet and Fasting on Psoriasis
David Kelsell
£85,500 Psoriasis Association
01-10-2021 - 30-09-2024

Dissecting 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

iRhom2 and the keratinocyte stress response in health and disease
David Kelsell and Andrew Tinker
£559,364 MRC Medical Research Council
01-04-2019 - 31-08-2023

iRhom2 as a key regulator of epidermal proliferation and inflammation in psoriasis
David Kelsell
£90,000 British Skin Foundation (BSF)
05-02-2018 - 28-02-2023

IRHOM/ADAM17 in oesophageal squamous cell cancer
David Kelsell
£84,200 EU European Commission - Other
01-08-2017 - 31-12-2018

IRHOM/ADAM17 in oesophageal squamous cell cancer
David Kelsell
£1,155,624 Cancer Research UK
01-05-2015 - 28-02-2021

IRHOM/ADAM17 in oesophageal squamous cell cancer
David Kelsell
£67,360 EU European Commission - Other
01-05-2015 - 31-12-2018

Unravelling the molecular and mechanistic complexity of ARVC via the skin
David Kelsell
£1,053,917 British Heart Foundation
01-08-2014 - 31-07-2019