Publications: Prof David Kelsell

Del Caño LR, Dunnigan A, Evora A, Ahmad U, Kelsell DP, Blaydon D ( 2024 ) . 188 Is mouse paw skin a good model of human palmoplantar skin? . Journal of Investigative Dermatology vol. 144 , ( 12 )

Coulombe PA, Hansen D, Hickerson R, Hovnanian A, O'Toole EA, Kelsell DP, Evans H, Schwartz J et al. ( 2024 ) . Celebrating 20 Years of the International Pachyonychia Congenita Consortium . Journal of Investigative Dermatology

Tan XL, Chan J, Thomas B, Van Duijvenboden S, Hogan S, Hughes A, Tawfik S, Dhoat S et al. ( 2024 ) . O11 Associations between hyperlinearity of the sole and filaggrin variants in atopic eczema in a South Asian population: a cross-sectional study . British Journal of Dermatology vol. 191 , ( Supplement_1 ) i6 - i7 .

Chan J, Tan XL, Thomas B, Hughes A, Tawfik S, Dhoat S, Atkar R, Begum J et al. ( 2024 ) . P083 Ichthyosis vulgaris in a South Asian population with atopic eczema: prevalence, clinical phenotypes and filaggrin variants . British Journal of Dermatology vol. 191 , ( Supplement_1 ) i53 - i54 .

Chan J, Tan XL, Thomas B, Hughes A, McCarthy R, Tawfik S, Dhoat S, Atkar R et al. ( 2024 ) . SG10 Ichthyosis vulgaris in a South Asian population with atopic eczema: prevalence, clinical phenotypes and filaggrin variants . British Journal of Dermatology vol. 191 , ( Supplement_1 ) i185 - i186 .

Leech T, Peiris M, Woodland PJ, Kelsell D, Blaydon DC ( 2024 ) . Su1238 SUBSTANCE P AND NK1R – A NOVEL NEUROIMMUNE PATHWAY IN GASTRO-OESOPHAGEAL REFLUX DISEASE . Gastroenterology vol. 166 , ( 5 )

Del Caño LR, South AP, O'Toole EA, Kelsell DP, Blaydon DC ( 2024 ) . A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma . Journal of Investigative Dermatology vol. 144 , ( 9 ) 2092 - 2096 .

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 .

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 vol. 3 , ( 3 ) 385 - 395 .

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 vol. 144 , ( 4 ) 748 - 754 .

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 .

Murtough S, Ramos Del Caño L, Delaney P, Webb C, Colom B, Jones P, Blaydon D, Kelsell D et al. ( 2022 ) . ESDR173 - A Model to Unravel Pathways Underpinning Palmoplantar Homeostasis and Disease .

Ramos L, Yousaf Y, Kelsell D, Blaydon D ( 2022 ) . ESDR188 - CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes .

Thomas B, Kelsell D, O'Toole E, Thomas B ( 2022 ) . ESDR099 - Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status .

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

de 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 .

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Xu C, Chambers JA, Nicolai H, Brown MA, Hujeirat Y, Mohammed S, Hodgson S, Kelsell DP et al. ( 1998 ) . Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families . Genes Chromosomes and Cancer vol. 18 , ( 2 ) 102 - 110 .

White TW, Deans MR, Kelsell DP, Paul DL ( 1998 ) . Connexin mutations in deafness . Nature vol. 394 , ( 6694 ) 630 - 631 .

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

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

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

Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H et al. ( 1998 ) . A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2) . Journal of Medical Genetics vol. 35 , ( 2 )

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM ( 1997 ) . Connexin 26 mutations in hereditary non-syndromic sensorineural deafness . Nature vol. 387 , ( 6628 ) 80 - 83 .

Kelsell DP, Spurr NK ( 1997 ) . Gene mapping using somatic cell hybrids . vol. 68 , 45 - 52 .

Kelsell DP, Spurr NK ( 1996 ) . Gene Mapping Using Somatic Cell Hybrids . Gene Isolation and Mapping Protocols , vol. 68 , Springer Nature

Smith FJD, Eady RAJ, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK et al. ( 1996 ) . Plectin deficiency results in muscular dystrophy with epidermolysis bullosa . Nature Genetics vol. 13 , ( 4 ) 450 - 457 .

Kelsell DP, Risk JM, Leigh IM, Stevens HP, Ellis A, Hennies HC, Reis A, Weissenbach J et al. ( 1996 ) . Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer ( TOC ) . Human Molecular Genetics vol. 5 , ( 6 ) 857 - 860 .

Kelsell DP, Spurr NK, Barnes DM, Gusterson B, Bishop DT ( 1996 ) . Combined loss of BRCA1/BRCA2 in grade 3 breast carcinomas . The Lancet vol. 347 , ( 9014 ) 1554 - 1555 .

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS et al. ( 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 . JAMA Dermatology vol. 132 , ( 6 ) 640 - 651 .

Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RPR, Spurr NK, Leigh IM ( 1996 ) . Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 . Journal of Investigative Dermatology vol. 106 , ( 4 ) 795 - 797 .

STEVENS HP, KELSKLL DP, LEIGH IM, OSTLERE LS, MACDERMOT KD, RUSTIN MHA ( 1996 ) . Punctate palmoplantar keratoderma and malignancy in a four-generation family . British Journal of Dermatology vol. 134 , ( 4 ) 720 - 726 .

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

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S et al. ( 1996 ) . Identification of the breast cancer susceptibility gene BRCA2 . Nature vol. 379 , ( 6567 ) 749 - 749 .

Risk JM, Kelsell DP, Bishop DT, Leigh IM, Ellis A, Field JK ( 1996 ) . Close range mapping of the tylosis oesophageal cancer gene (TOGG) to chromosome 17q . JOURNAL OF DENTAL RESEARCH . vol. 75 , 1148 - 1148 .

Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D, Spurr N, Lennard L et al. ( 1996 ) . Thiopurine Methyltransferase Pharmacogenetics: Human Gene Cloning and Characterization of a Common Polymorphism . DNA and Cell Biology vol. 15 , ( 1 ) 17 - 30 .

Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S et al. ( 1995 ) . Identification of the breast cancer susceptibility gene BRCA2 . Nature vol. 378 , ( 6559 ) 789 - 792 .

Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Keisell DP, McLean WHI, Cook LJ et al. ( 1995 ) . Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families . Human Molecular Genetics vol. 4 , ( 10 ) 1875 - 1881 .

Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM, Spurr NK ( 1995 ) . Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity . Human Molecular Genetics vol. 4 , ( 6 ) 1021 - 1025 .

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

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

Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE ( 1994 ) . Risks of cancer in BRCA1-mutation carriers . The Lancet vol. 343 , ( 8899 ) 692 - 695 .

Keisell DP, Black DM, Bishop DT, Spurr NK ( 1993 ) . Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1 . Human Molecular Genetics vol. 2 , ( 11 ) 1823 - 1828 .

Kelsell DP, Black DM, Solomon E, Spurr NK ( 1993 ) . Localization of a Second NM23 Gene, NME2, to Chromosome 17q21-q22 . Genomics vol. 17 , ( 2 ) 522 - 524 .

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

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

Kelsell DP, Wolf CR, Spurr NK ( 1990 ) . An Xmnl RFLP detected with a probe for the CYP2E gene locus on chromosome 10 . Nucleic Acids Research vol. 18 , ( 10 ) 3111 - 3111 .