Publications: Prof David Kelsell

Dulloo I, Tellier M, Levet C, Chikh A, Zhang B, Blaydon DC, Webb CM, Kelsell DP et al. ( 2024 ) . Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway . Molecular Cell vol. 84 , ( 2 ) 277 - 292.e9 .

O'Toole EA, Kelsell DP, Caterina MJ, de Brito M, Hansen D, Hickerson RP, Hovnanian A, Kaspar R et al. ( 2023 ) . Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches . Journal of Investigative Dermatology

Murtough S, Babu D, Webb CM, Picard HLD, McGinty LA, Chao-Chu J, Pink R, Silver AR et al. ( 2023 ) . INVESTIGATING iRHOM2-ASSOCIATED TRANSCRIPTIONAL CHANGES IN TYLOSIS WITH ESOPHAGEAL CANCER . Gastro Hep Advances

Ustaoglu A, Daudali FA, D’afflitto M, Murtough S, Lee C, Moreno E, Blaydon DC, Kelsell DP et al. ( 2023 ) . Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile . Frontiers in Immunology vol. 14 ,

Thomas BR, Tan XL, Van Duijvenboden S, Hogan SC, Hughes AJ, Tawfik SS, Dhoat S, Atkar R et al. ( 2023 ) . Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population . British Journal of Dermatology vol. 188 , ( 6 ) 785 - 792 .

Leech T, Blaydon D, Kelsell D, Woodland P, Peiris M ( 2023 ) . A novel role for high mobility group box 1 (HMGB1) in gastro-oesophageal reflux disease . NEUROGASTROENTEROLOGY AND MOTILITY . vol. 35 ,

Tawfik SS, Thomas BR, Kelsell DP, Grigg J, O’Toole EA ( 2022 ) . Dermatology Quality of Life Index scores in Bangladeshi patients with atopic eczema and their families in East London . British Journal of Dermatology vol. 188 , ( 4 ) 524 - 532 .

Thomas B, Kelsell D, O’Toole EA ( 2022 ) . 099 Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status . Journal of Investigative Dermatology vol. 142 , ( 12 )

Murtough S, Del Caño LR, Delaney PJ, Webb CM, Colom B, Jones PH, Blaydon D, Kelsell D ( 2022 ) . 173 A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease . Journal of Investigative Dermatology vol. 142 , ( 12 )

Ramos L, Yousaf Y, Kelsell D, Blaydon D ( 2022 ) . 188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes . Journal of Investigative Dermatology vol. 142 , ( 12 )

Unsicker K, Jockusch BM, Kelsell DP ( 2022 ) . Obituary — Werner W. Franke . Cell and Tissue Research vol. 390 , ( 3 ) 315 - 316 .

Thomas B, McDonald B, Dhoat S, Noimark L, Aston A, Robinson EJ, Rahman S, Ahmed RA et al. ( 2021 ) . 179 Phenotype association with Filaggrin loss of function from the Tower Hamlets Eczema Assessment (THEA) . Journal of Investigative Dermatology vol. 141 , ( 10 )

Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Krupiczojc MA, Rahman SR, Rahman S et al. ( 2021 ) . Modelling of temporal exposure to the ambient environment and eczema severity . JID Innovations100062 - 100062 .

Ng KE, Delaney PJ, Thenet D, Murtough S, Webb CM, Zaman N, Tsisanova E, Mastroianni G et al. ( 2021 ) . Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy . Cell and Tissue Research vol. 386 , ( 1 ) 79 - 98 .

Thomas BR, Tan XL, Javadzadeh S, Robinson EJ, McDonald BS, Dhoat S, Krupiczojc MA, Rahman SR et al. ( 2021 ) . Phenotype association with filaggrin loss-of-function variants in 349 individuals with eczema from the Tower Hamlets Eczema Assessment (THEA) . BRITISH JOURNAL OF DERMATOLOGY . vol. 185 , 131 - 132 .

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

Peltonen S, Eming SA, Griffiths CEM, Széll M, Kelsell D, De Rie MA ( 2020 ) . Celebrating the 50th Anniversary of ESDR . Journal of Investigative Dermatology vol. 140 , ( 9 ) s145 - s146 .

Griffiths CEM, Széll M, Kelsell DP ( 2020 ) . The Future of ESDR . Journal of Investigative Dermatology vol. 140 , ( 9 ) s192 - s193 .

Enjalbert F, Dewan P, Caley MP, Jones EM, Morse MA, Kelsell DP, Enright AJ, O'Toole EA ( 2020 ) . 3D model of harlequin ichthyosis reveals inflammatory therapeutic targets . Journal of Clinical Investigation

Oliveira RTG, Christofolini DM, Criado PR, Martins EL, Kelsell D, Filho CDSM ( 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 .

Thomas B, Javadzadeh S, Robinson E, Ahmed R, Begum R, Rahman S, Khanam H, Kelsell D et al. ( 2020 ) . Ground-level ozone exacerbates eczema in East London Bangladeshis . BRITISH JOURNAL OF DERMATOLOGY . vol. 183 , 14 - 14 .

Maruthappu T, Kelsell DP ( 2020 ) . Inherited skin disease . Oxford Textbook of Medicine , Oxford University Press (OUP)

Thomas BR, Javadzadeh S, Robinson E, Ahmed R, Begum R, Rahman S, Khanam H, Kelsell DP et al. ( 2019 ) . 163 Eczema: Relationships between the environment, severity and the risk of admission to hospital . Journal of Investigative Dermatology . vol. 139 ,

Brooke MA, McGinty LA, Kelsell DP ( 2019 ) . 247 A role for iRhom2 in pachyonychia congenita . Journal of Investigative Dermatology . vol. 139 ,

Blaydon D, Kelsell DP ( 2019 ) . 255 Palmoplantar skin and keratinocytes harbouring mutant AQP5 display dysregulated actin cytoskeleton . Journal of Investigative Dermatology . vol. 139 ,

Chikh A, Webb CM, Arcidiacono P, Pink R, Kelsell DP ( 2019 ) . 261 Nucleocytoplasmic shuttling of iRHOM2 and its regulation of epidermal differentiation . Journal of Investigative Dermatology . vol. 139 ,

Murtough S, Webb CM, Chikh A, Picard HLD, Pink R, Wang J, Fitzgerald R, Risk J et al. ( 2019 ) . 423 Type 2 Immunity Linked to iRhom2 and Tylosis with Oesophageal Cancer . Journal of Investigative Dermatology . vol. 139 ,

McGinty LA, Blaydon D, Chikh A, Kelsell DP ( 2019 ) . 630 iRHOM2 is a key regulator of the cytoskeletal stress response . Journal of Investigative Dermatology . vol. 139 ,

Waller K, James C, de Jong A, Blackmore L, Ma Y, Stagg A, Kelsell D, O'Dwyer M et al. ( 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 ,

Temel ŞG, Karakaş B, Şeker Ü, Turkgenç B, Zorlu Ö, Sarıcaoğlu H, Oğur Ç, Kütük Ö et al. ( 2019 ) . A novel homozygous nonsense mutation in CAST associated with PLACK syndrome . Cell and Tissue Research vol. 378 , ( 2 ) 267 - 277 .

Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D et al. ( 2019 ) . Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report . European Journal of Heart Failure vol. 21 , ( 8 ) 955 - 964 .

Webb C, Murtough S, Chikh A, Picard HLD, Wang J, Pink R, Risk JM, Fitzgerald RC et al. ( 2019 ) . 454 iRhom2-mediated immune dysregulation: Impact on the skin and oesophagus . Journal of Investigative Dermatology vol. 139 , ( 5 )

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

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM et al. ( 2019 ) . DSP mutations and arrhythmogenic cardiomyopathy . British Journal of Dermatology vol. 180 , ( 5 ) e157 - e157 .

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM et al. ( 2019 ) . DSP 突变与致心律失常性心肌病 . British Journal of Dermatology vol. 180 , ( 5 ) e169 - e169 .

Maruthappu T, Posafalvi A, Castelletti S, Delaney PJ, Syrris P, O'Toole EA, Green KJ, Elliott PM et al. ( 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 .

Enjalbert F, Dewan P, Caley M, Morse M, Kelsell D, O'Toole E ( 2019 ) . Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis . BRITISH JOURNAL OF DERMATOLOGY . vol. 180 , E185 - E185 .

Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ et al. ( 2018 ) . P5709Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker . European Heart Journal vol. 39 , ( suppl_1 )

KELSELL DP, O'TOOLE E, PIGORS M, SCOTT CA, Tabarra N, VAN HEEL DA ( 2018 ) . Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes . Journal of Investigative Dermatology

Rahman MM, Hazan A, Selway JL, Herath DS, Harwood CA, Pirzado MS, Atkar R, Kelsell DP et al. ( 2018 ) . A novel mechanism for activation of GLI1 by nuclear SMO that escapes anti-SMO inhibitors . Cancer Research vol. 78 , ( 10 )

Enjalbert F, Dewan P, Caley MP, Fell B, Morse M, Kelsell D, Enright A, O'Toole EA ( 2018 ) . 661 Understanding the role of ABCA12 in the pathogenesis of harlequin ichthyosis . Journal of Investigative Dermatology . vol. 138 ,

Chikh A, Arcidiacono P, Webb C, Brooke M, Zhou H, Kelsell D ( 2018 ) . 784 The p63 - iRHOM2 signalling axis in the keratinocyte stress response . Journal of Investigative Dermatology vol. 138 , ( 5 )

Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng K-E, Blaydon DC, Tinker A et al. ( 2018 ) . p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response . Nature Communications vol. 9 , ( 1 )

McDonald BS, Pigors M, Kelsell DP, O'Toole EA, Burkitt‐Wright E, Kerr B, Batta K ( 2018 ) . Noonan syndrome with multiple lentigines and associated craniosynostosis . Clinical and Experimental Dermatology vol. 43 , ( 3 ) 357 - 359 .

Castelletti S, Maruthappu T, Posafalvi A, Syrris P, O'Toole EA, Green KJ, Tinker A, McKenna WJ et al. ( 2018 ) . Hair and cutaneous phenotypes linked to Arrhythmogenic Cardiomyopathy caused by Desmoplakin haploinsufficiency: an additional disease marker . EUROPEAN HEART JOURNAL . vol. 39 , 1206 - 1206 .

Webb CM, Arcidiacono P, Brooke MA, Pink RC, Zhou H, Chikh A, Kelsell DP ( 2018 ) . Investigating the iRHOM2 pathway in keratinocyte hyperproliferation . BRITISH JOURNAL OF DERMATOLOGY . vol. 178 , E407 - E407 .

Enjalbert F, Dewan P, Caley M, Fell B, Morse M, Kelsell D, Enright A, O'Toole E ( 2018 ) . Investigating the role of <i>ABCA12</i> in the pathomechanisms of harlequin ichthyosis . BRITISH JOURNAL OF DERMATOLOGY . vol. 178 , E406 - E406 .

Puzzi L, Borin D, Martinelli V, Mestroni L, Kelsell DP, Sbaizero O ( 2017 ) . Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation . Micron vol. 106 , 27 - 33 .

Russell MA, Pigors M, Houssen ME, Manson A, Kelsell D, Longhurst H, Morgan NG ( 2017 ) . A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID) . Clinical Immunology vol. 187 , 132 - 136 .

Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM et al. ( 2017 ) . Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair . Journal of Investigative Dermatology vol. 138 , ( 4 ) 984 - 987 .

Ip SCI, Cottle DL, Jones LK, Weir JM, Kelsell DP, O'Toole EA, Meikle PJ, Smyth IM ( 2017 ) . A profile of lipid dysregulation in harlequin ichthyosis . Br J Dermatol vol. 177 , ( 5 ) e217 - e219 .

Arcidiacono P, Webb CM, Blaydon D, Chikh A, Kelsell DP ( 2017 ) . 083 iRHOM2-p63 pathway mediates survival and redox balance in keratinocytes . Journal of Investigative Dermatology . vol. 137 ,

Picard HLD, Blaydon D, Kelsell DP ( 2017 ) . 086 Evidence for a palmoplantar-specific role for microtubules . Journal of Investigative Dermatology vol. 137 , ( 10 )

McGinty L, Kelsell DP, Blaydon D ( 2017 ) . 097 iRHOM2 regulation of loricrin in the epidermal barrier . Journal of Investigative Dermatology . vol. 137 ,

Enjalbert F, Dewan P, Caley M, Fell B, Morse M, Kelsell DP, Enright A, O'Toole EA ( 2017 ) . Understanding the role of ABCA12 in the Pathogenesis of Harlequin Ichthyosis . JOURNAL OF INVESTIGATIVE DERMATOLOGY . Conference: ESDR 2017 vol. 137 , S208 - S208 .

Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y et al. ( 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 .

Maruthappu T, Chikh A, Fell B, Delaney PJ, Brooke MA, Levet C, Moncada-Pazos A, Ishida-Yamamoto A et al. ( 2017 ) . Rhomboid family member 2 Regulates cytoskeletal stress associated Keratin 16 . Nature Communications vol. 8 , 14174 - 14174 .

Wolf C, Qian Y, Brooke MA, Kelsell DP, Franzke C-W ( 2017 ) . Erratum: Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways . Scientific Reports vol. 7 , ( 1 )

Picard HLD, Blaydon D, Kelsell DP ( 2017 ) . Evidence for a palmoplantar-specific role for microtubules . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 137 , S207 - S207 .

Maruthappu T, McGinty L, Braun K, Duit R, Maatta A, Sapkota G, Blaydon D, O'Toole E et al. ( 2017 ) . Mutations in <i>FAM83G</i> cause autosomal recessive palmoplantar keratoderma with leuconychia and abundant curly hair . BRITISH JOURNAL OF DERMATOLOGY . vol. 177 , 79 - 79 .

WOLF C, QIAN Y, BROOKE MA, KELSELL DP, FRANZKE CW ( 2016 ) . ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C γ1 and protein kinase C pathways . Scientific Reports vol. 6 , Article 39780 ,

Chikh A, Maruthappu T, Kelsell DP ( 2016 ) . 126 iRHOM2 regulates Keratin 16, a Major Cytoskeletal Stress Keratin . Journal of Investigative Dermatology . vol. 136 ,

Enjalbert F, Dewan P, Caley M, Fell B, Donaldson M, Kelsell DP, O’Toole EA ( 2016 ) . 133 Understanding the role of ABCA12 in the pathogenesis of Harlequin Ichthyosis . Journal of Investigative Dermatology . vol. 136 ,

Maruthappu T, McGinty L, Blaydon D, Duit R, Maatta A, O’Toole E, Kelsell DP ( 2016 ) . 180 Mutations in FAM83G/PAWS1 cause autosomal recessive palmoplantar keratoderma with leukonychia and abundant curly hair . Journal of Investigative Dermatology . vol. 136 ,

Posafalvi A, Maruthappu T, Castelletti S, Syrris P, O’Toole E, McKenna WJ, Kelsell DP ( 2016 ) . 183 Clinical and genetic studies reveal cutaneous phenotypes linked to desmoplakin haploinsufficiency in arrhythmogenic cardiomyopathy . vol. 136 , is. 9 , Elsevier

Arcidiacono P, Chikh A, Kelsell DP ( 2016 ) . 568 p63 regulation of the iRHOM2/ADAM17 pathway in keratinocytes . Journal of Investigative Dermatology . vol. 136 ,

Pigors M, Sarig O, Heinz L, Plagnol V, Fischer F, Mohamad J, Malchin N, Rajpopat S et al. ( 2016 ) . Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions . American Journal of Human Genetics

Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R et al. ( 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 .

Salas-Alanís JC, Scott CA, Fajardo-Ramírez OR, Duran C, Moreno-Treviño MG, Kelsell DP ( 2016 ) . New ANTXR1 Gene Mutation for GAPO Syndrome: A Case Report . Mol Syndromol vol. 7 , ( 3 ) 160 - 163 .

Harris AG, Choy C, Pigors M, Kelsell DP, Murrell DF ( 2016 ) . Cover image: Unpeeling the layers of harlequin ichthyosis . Br J Dermatol vol. 174 , ( 5 ) 1160 - 1161 .

Pigors M, Common JE, Wong C, Malik S, Scott CA, Foo J, Liu J, Margolis D et al. ( 2016 ) . 380 Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes . Journal of Investigative Dermatology . vol. 136 ,

Brooke MA, Fell B, Kelsell D ( 2016 ) . 432 The iRHOM2-ADAM17 axis as a driver of epidermal hyperproliferation and inflammation . Journal of Investigative Dermatology . vol. 136 ,

Boente MD, Nanda A, Baselaga PA, Kelsell DP, McGrath JA, South AP ( 2016 ) . Cardiomyopathy diagnosed in the eldest child harboring p.S24X mutation in JUP . The British journal of dermatology

Sawada G, Niida A, Uchi R, Hirata H, Shimamura T, Suzuki Y, Shiraishi Y, Chiba K et al. ( 2016 ) . Genomic Landscape of Esophageal Squamous Cell Carcinoma in a Japanese Population . Gastroenterology vol. 150 , ( 5 ) 1171 - 1182 .

Pigors M, Common JEA, Wong C, Scott CA, Foo JN, Liu J, O'Toole E, Simpson MA et al. ( 2016 ) . Exome sequencing reveals multiple filaggrin mutations in Bangladeshi families with atopic eczema . BRITISH JOURNAL OF DERMATOLOGY . vol. 174 , E64 - E65 .

Kelsell DP, Rajpopat S, Thomas A, O'Toole EA ( 2016 ) . Harlequin Ichthyosis: genetic, functional and clinical investigations . BRITISH JOURNAL OF DERMATOLOGY . vol. 175 , 50 - 50 .

Ziaj S, Pigors M, Scott C, Lewis F, Ali I, Roberts N, Kelsell DP, O'Toole EA ( 2016 ) . Novel mutations in <i>SLURP1</i> causing Mal de Meleda palmoplantar keratoderma with varying phenotypes . BRITISH JOURNAL OF DERMATOLOGY . vol. 175 , 81 - 81 .

Arcidiacono P, Chikh A, Kelsell D ( 2016 ) . Regulation of the iRhom2/ADAM17 pathway in keratinocytes . BRITISH JOURNAL OF DERMATOLOGY . vol. 174 , E44 - E45 .

Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K ( 2015 ) . Acral peeling skin syndrome associated with a novel CSTA gene mutation . Clinical and Experimental Dermatology vol. 41 , ( 4 ) 394 - 398 .

Maney SK, McIlwain DR, Polz R, Pandyra AA, Sundaram B, Wolff D, Ohishi K, Maretzky T et al. ( 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 )

Rajpopat S, Kelsell D, O'Toole E ( 2015 ) . Harlequin ichthyosis: a review of 50 cases and update of ABCA12 mutation analysis . Archives of Disease in Childhood vol. 95 , ( Suppl 1 ) a14 - a14 .

Ellis A, Risk JM, Maruthappu T, Kelsell DP ( 2015 ) . Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms . Orphanet Journal of Rare Diseases vol. 10 , ( 1 )

Salas-Alanis JC, Wozniak E, Mein CA, Mckinster CCD, Ocampo-Candiani J, Kelsell DP, Hua R, Garza-Rodriguez ML et al. ( 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 .

Getsios S, Kelsell DP, Forge A ( 2015 ) . Junctions in human health and inherited disease . Cell and Tissue Research vol. 360 , ( 3 ) 435 - 438 .

Abrams DJ, Kirkby C, Page SP, Earley MJ, Nitiou D, Kelsell DP, Schilling RJ ( 2015 ) . Evolution of Electrocardiographic and Structural Features Over 3 Decades in Arrhythmogenic Cardiomyopathy . Circulation vol. 131 , ( 25 ) 2233 - 2235 .

Bland PJ, Chronnell C, Plagnol V, Kayserili H, 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 .

Getsios S, Kelsell DP, Forge A ( 2015 ) . Junctions in human health and inherited disease . Cell and Tissue Research vol. 360 , ( 3 ) 435 - 438 .

Gupta A, Nitoiu D, Brennan-Crispi D, Addya S, Riobo NA, Kelsell DP, 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 )

AlFawaz S, Plagnol V, Wong FSL, 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 .

Notari M, Hu Y, Sutendra G, Dedeić Z, Lu M, Dupays L, Yavari A, Carr CA et al. ( 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 .

Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJD, Wilson NJ, Cole C et al. ( 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 .

Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A ( 2015 ) . Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis . Gene vol. 556 , ( 2 ) 254 - 256 .

Chinthapalli S, Buckley D, Lin Z, Nitoiu D, Scott C, Smith F, Yang Y, Kelsell D et al. ( 2015 ) . A novel peeling skin syndrome . BRITISH JOURNAL OF DERMATOLOGY . vol. 173 , 78 - 78 .

Fell B, Maruthappu T, Chikh A, Kelsell D ( 2015 ) . In vitro Organotypic Wound Healing Model: the Role of iRHOM2 in Tylosis . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 135 , S45 - S45 .

Pigors M, Heinz L, Plagnol V, Fischer J, Kharfi M, Lestringant GG, Kelsell D, Blaydon DC ( 2015 ) . Mutations in <i>SERPINB8</i> underlie a mild peeling skin phenotype . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 135 , S55 - S55 .

Arcidiacono P, Harwood C, Kelsell D ( 2015 ) . Notch regulated inflammatory pathway in Cutaneous Squamous Cell Carcinoma . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 135 , S25 - S25 .

Brooke M, Etheridge S, Fell B, Kelsell D ( 2015 ) . iRhom2 regulation of ADAM17 as a key regulator of epithelial growth factor and proinflammatory cytokine signalling . BRITISH JOURNAL OF DERMATOLOGY . vol. 172 , E40 - E40 .

Maruthappu T, Chikh A, Kelsell D ( 2015 ) . iRhom2: a novel regulator of wound healing and cancer . BRITISH JOURNAL OF DERMATOLOGY . vol. 172 , E39 - E40 .

Aggarwal S, Kar A, Bland P, Kelsell D, Dalal A ( 2014 ) . Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis . Gene vol. 556 , ( 2 ) 254 - 256 .

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

Brooke MA, O'Toole EA, Kelsell DP ( 2014 ) . Exoming into rare skin disease: EGFR deficiency . J Invest Dermatol vol. 134 , ( 10 ) 2486 - 2488 .

Maruthappu T, Scott CA, Kelsell DP ( 2014 ) . Discovery in genetic skin disease: the impact of high throughput genetic technologies . Genes (Basel) vol. 5 , ( 3 ) 615 - 634 .

Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'Toole EA, Ishida-Yamamoto A, Marches O, Getsios S et al. ( 2014 ) . iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function . Hum Mol Genet vol. 23 , ( 15 ) 4064 - 4076 .

Nitoiu D, Etheridge SL, Kelsell DP ( 2014 ) . Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes . Cell Commun Adhes vol. 21 , ( 3 ) 129 - 140 .

Brooke MA, Longhurst HJ, Plagnol V, Kirkby NS, Mitchell JA, Rüschendorf F, Warner TD, Kelsell DP et al. ( 2014 ) . Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α . Gut vol. 63 , ( 1 ) 96 - 104 .

Chikh A, Brooke M, Etheridge S, Kelsell D ( 2014 ) . Dissecting the regulation of the inactive rhomboid protein 2/ADAM17 pathway in keratinocyte differentiation and barrier function . BRITISH JOURNAL OF DERMATOLOGY . vol. 170 , E39 - E40 .

Fell B, Brooke MA, Etheridge S, Getsios S, Kelsell DP ( 2014 ) . In vitro Model for Tylosis: Dysregulation of ADAM17 in the Epidermis . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 134 , S47 - S47 .

Lin Z, Nitoiu D, Scott C, Zhao J, Plagnol V, O'toole E, Kelsell D, Yang Y ( 2014 ) . Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads with milia caused by loss-of-function mutations in calpastatin . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 134 , S53 - S53 .

Maruthappu T, Chikh A, Kelsell D ( 2014 ) . iRhom2: a novel regulator of wound healing . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 134 , S98 - S98 .

Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJD, Wilson NJ, McLean WHI, Munro CS et al. ( 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 .

Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J, 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 .

Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J, 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 .

Curtis MA, Kelsell DP ( 2013 ) . Current insights into protease dynamics in human epithelial disease and barrier function . Cell and Tissue Research vol. 351 , ( 2 ) 213 - 215 .

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( 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 vol. 133 , ( 6-7 )

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

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Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IPM, 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 .

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Aasen T, Di WL, Kelsell DP ( 2005 ) . Elucidation of connexin31 as a regulator of epidermal differentiation and tissue homeostasis . BRITISH JOURNAL OF DERMATOLOGY . vol. 152 , 835 - 835 .

Common JEA, Thomas AC, O'Toole EA, Kelsell DP ( 2005 ) . Evidence for a key role of Connexin 26 in early epidermal differentiation . BRITISH JOURNAL OF DERMATOLOGY . vol. 152 , 855 - 855 .

Blaydon DC, Teh M, Foot NJ, Philpott MP, Harwood C, Proby C, Young BD, Kelsell DP ( 2005 ) . Genome-wide SNP microarray mapping in basal cell carcinomas unveils uniparental dismay as a key somatic event . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 124 , A20 - A20 .

Alam NA, Olpin S, Rowan A, Kelsell D, Leigh IM, Tomlinson IPM, Weaver T ( 2005 ) . Missense FH mutations in multiple cutaneous and uterine leiomyomatosis and renal cell cancer . BRITISH JOURNAL OF DERMATOLOGY . vol. 152 , 845 - 845 .

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Skerrett IM, Di WL, Kasperek EM, Kelsell DP, 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 .

Alam NA, Gorman P, Jaeger EEM, Kelsell D, Leigh IM, Ratnavel R, Murdoch ME, Houlston RS et al. ( 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 .

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Jolliffe VM, O'Toole EA, Common JE, Kelsell DP, Yell JA, Paige DG, McKenna KE, Leigh IM ( 2003 ) . Clinical and molecular features of keratitis-ichthyosis-deafness syndrome . BRITISH JOURNAL OF DERMATOLOGY . vol. 149 , 80 - 80 .

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Edmunds SC, Cree IA, Dí Nícolantonío F, Hungerford JL, Hurren JS, Kelsell DP ( 2003 ) . Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas . Br J Cancer vol. 88 , ( 9 ) 1403 - 1405 .

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Fear MW, Kelsell DP, Spurr NK, 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 .

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