Publications: Prof David Kelsell

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 .

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 .

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

Etheridge SL, Brooke MA, Kelsell DP, Blaydon DC ( 2013 ) . Rhomboid proteins: A role in keratinocyte proliferation and cancer . Cell and Tissue Research vol. 351 , ( 2 ) 301 - 307 .

Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D et al. ( 2013 ) . Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases . J Invest Dermatol vol. 133 , ( 2 ) 573 - 576 .

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP ( 2013 ) . A missense mutation in the MBTPS2 gene underlies the x-linked form of olmsted syndrome . Journal of Investigative Dermatology vol. 133 , ( 2 ) 571 - 573 .

Simpson C, Kelsell DP, Marchès O ( 2013 ) . Connexin 26 facilitates gastrointestinal bacterial infection in vitro . Cell and Tissue Research vol. 351 , ( 1 ) 107 - 116 .

Simpson C, Kelsell DP, Marchès O ( 2013 ) . Connexin 26 facilitates gastrointestinal bacterial infection in vitro . Cell Tissue Res vol. 351 , ( 1 ) 107 - 116 .

Rahman M, Selway J, Herath D, Hazan A, Roy A, Langlands K, Edmunds S, Kelsell D et al. ( 2013 ) . Gene expression profiling demonstrates that the effects of PTCH1 suppression are not fully reversed upon pharmacological inhibition of SMOOTHENED in human keratinocytes . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 133 , S68 - S68 .

Scott CA, Plagnol V, Nitoiu D, Bland PJ, Blaydon DC, Chronnell CM, Poon DS, Bourn D et al. ( 2013 ) . Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases . Journal of Investigative Dermatology vol. 133 , ( 2 ) 573 - 576 .

Scott CA, Tattersall D, O'Toole EA, Kelsell DP ( 2012 ) . Connexins in epidermal homeostasis and skin disease . Biochimica et Biophysica Acta - Biomembranes vol. 1818 , ( 8 ) 1952 - 1961 .

Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP et al. ( 2012 ) . Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene . International Journal of Cancer vol. 131 , ( 3 )

Lambert SR, Harwood CA, Purdie KJ, Gulati A, Matin RN, Romanowska M, Cerio R, Kelsell DP et al. ( 2012 ) . Metastatic cutaneous squamous cell carcinoma shows frequent deletion in the protein tyrosine phosphatase receptor Type D gene . Int J Cancer vol. 131 , ( 3 ) E216 - E226 .

Cabral RM, Tattersall D, Patel V, McPhail GD, Hatzimasoura E, Abrams DJ, South AP, Kelsell DP ( 2012 ) . The DSPII splice variant is crucial for desmosome-mediated adhesion in HaCaT keratinocytes . J Cell Sci vol. 125 , ( Pt 12 ) 2853 - 2861 .

Blaydon DC, Etheridge SL, Risk JM, Hennies H-C, Gay LJ, Carroll R, Plagnol V, McRonald FE et al. ( 2012 ) . RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome . Am J Hum Genet vol. 90 , ( 2 ) 340 - 346 .

MacDonald TT, Harper JI, Kelsell DP ( 2012 ) . The authors reply . New England Journal of Medicine vol. 366 , ( 2 )

Rahman M, Herath D, Selway J, Roy A, Nadendla S, Kelsell D, Harwood C, Philpott M et al. ( 2012 ) . <i>In vitro</i> modelling of basal cell carcinoma reveals a novel PTCH1-GLI1 signalling axis that is unresponsive to Smoothened inhibitors in human keratinocytes . BRITISH JOURNAL OF DERMATOLOGY . vol. 166 , e29 - e29 .

Kelsell DP ( 2012 ) . A 33-Next generation sequencing in ARVC mutation detection and new genes for desmosomal-like disease . CELL AND TISSUE RESEARCH . vol. 348 , 356 - 356 .

Brooke MA, Etheridge SL, Blaydon DC, Kelsell DP ( 2012 ) . A Genetic and Functional Link Between iRhom2 and ADAM17 in Tylosis with Oesophageal Cancer . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 132 , S90 - S90 .

Haghighi A, Scott CA, Poon DS, Yaghoobi R, Saleh-Gohari N, Plagnol V, Kelsell DP ( 2012 ) . A Missense Mutation in the MBTPS2 Gene Underlies the X-Linked Form of Olmsted Syndrome . Journal of Investigative Dermatology

Brooke M, Etheridge S, Blaydon D, Kelsell D ( 2012 ) . A genetic and functional link between ADAM17 and RHBDF2 in tylosis with oesophageal cancer . BRITISH JOURNAL OF DERMATOLOGY . vol. 166 , e28 - e28 .

Brooke MA, Nitoiu D, Kelsell DP ( 2012 ) . Cell-cell connectivity: desmosomes and disease . J Pathol vol. 226 , ( 2 ) 158 - 171 .

Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J et al. ( 2012 ) . Characterisation and validation of insertions and deletions in 173 patient exomes . PLoS One vol. 7 , ( 12 )

Mansouri Y, Nitoiu D, Kelsell D, Moss C ( 2012 ) . Evolution of phenotype in three brothers with a homozygous mutation in desmoplakin . BRITISH JOURNAL OF DERMATOLOGY . vol. 167 , 140 - 141 .

Kelsell DP ( 2012 ) . High Throughput Sequencing: New Genes for Epithelial Disease . JOURNAL OF PATHOLOGY . vol. 226 , S2 - S2 .

MacDonald TT, Harper JI, Kelsell DP ( 2012 ) . Inflammatory Bowel Disease and <i>ADAM17</i> Deletion REPLY . NEW ENGLAND JOURNAL OF MEDICINE vol. 366 , ( 2 ) 190 - 190 .

Scott C, Bland P, Plagnol V, Nitoiu D, Poon D, O'Toole E, Kelsell D ( 2012 ) . Next-generation sequencing in genetic diagnosis of skin disease . BRITISH JOURNAL OF DERMATOLOGY . vol. 166 , e34 - e34 .

Etheridge S, Blaydon D, Brooke M, Risk J, South A, Kelsell D ( 2012 ) . RHBDF2 mutations affect epidermal growth factor signalling in tylosis with oesophageal cancer . BRITISH JOURNAL OF DERMATOLOGY . vol. 166 , e24 - e25 .

Etheridge SL, Brooke MA, Kelsell DP, Blaydon DC ( 2012 ) . Rhomboid proteins: a role in keratinocyte proliferation and cancer . Cell and Tissue Research1 - 7 .

Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F et al. ( 2011 ) . Inflammatory skin and bowel disease linked to ADAM17 deletion . N Engl J Med vol. 365 , ( 16 ) 1502 - 1508 .

Blaydon DC, Nitoiu D, Eckl K-M, Cabral RM, Bland P, Hausser I, van Heel DA, Rajpopat S et al. ( 2011 ) . Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion . Am J Hum Genet vol. 89 , ( 4 ) 564 - 571 .

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

Pyati UJ, Gjini E, Carbonneau S, Lee JS, Guo F, Jette CA, Kelsell DP, Look AT ( 2011 ) . p63 Mediates an Apoptotic Response to Pharmacological and Disease-Related ER Stress in the Developing Epidermis . DEV CELL vol. 21 , ( 3 ) 492 - 505 .

Blaydon D, Biancheri P, Di WL, Plagnol V, Cabral R, Brooke M, Martin J, MacDonald T et al. ( 2011 ) . A homozygous deletion mutation in ADAM17 underlies an autosomal recessive inflammatory skin and bowel disease . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 131 , S62 - S62 .

Nitoiu D, Blaydon D, Cabral R, Bland P, Zvulunov A, Hennies HC, Kelsell D ( 2011 ) . A key role for the protease inhibitor Cystatin A in keratinocyte adhesion . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 131 , S53 - S53 .

Scott CA, Kelsell DP ( 2011 ) . Key functions for gap junctions in skin and hearing . Biochem J vol. 438 , ( 2 ) 245 - 254 .

Etheridge S, Blaydon D, Risk J, Hennies HC, Stevens H, Field J, Ellis A, Leigh I et al. ( 2011 ) . RHBDF2 mutations in Tylosis with Oesophageal Cancer cause dysregulation of downstream EGF and EphrinB3 signalling . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 131 , S63 - S63 .

Kelsell DP, Byrne C ( 2011 ) . SNPing at the Epidermal Barrier . J INVEST DERMATOL vol. 131 , ( 8 ) 1593 - 1595 .

Alsharqi A, Salim A, Nitoiu D, Kelsell DP ( 2011 ) . Two siblings with atrichia congenita due to a splice-site mutation in the human hairless gene . BRITISH JOURNAL OF DERMATOLOGY . vol. 165 , 126 - 126 .

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N et al. ( 2011 ) . Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases . Arch Dermatol vol. 147 , ( 6 ) 681 - 686 .

O'Toole EA, Kelsell DP ( 2011 ) . Collodion Baby . Harper's Textbook of Pediatric Dermatology , Wiley

O'Toole EA, Kelsell DP ( 2011 ) . Harlequin Ichthyosis . Harper's Textbook of Pediatric Dermatology , Wiley

Tattersall D, Kelsell DP ( 2011 ) . Cx31 and AP1S1: evidence for interaction and a common molecular link with erythrokeratoderma . BRITISH JOURNAL OF DERMATOLOGY . vol. 164 , 916 - 917 .

Nitoiu D, Blaydon DC, Cabral R, Bland P, Kelsell DP ( 2011 ) . Genetic and cellular evidence for a key role for a protease inhibitor in desmosomal adhesion . BRITISH JOURNAL OF DERMATOLOGY . vol. 164 , 915 - 915 .

Rahman MM, Kelsell DP, Philpott MP, Neill GW ( 2011 ) . In vitro modelling of basal cell carcinoma reveals a novel PTCH1-GLI1 signalling axis that is independent of SMOOTHENED in human keratinocytes . BRITISH JOURNAL OF DERMATOLOGY . vol. 164 , 907 - 908 .

Blaydon DC, Walne AJ, Plagnol V, van Heel DA, Vulliamy T, Kelsell DP ( 2011 ) . Using next-generation sequencing to identify novel disease genes . BRITISH JOURNAL OF DERMATOLOGY . vol. 164 , 930 - 931 .

Blaydon DC, Nitoiu D, Cabral RM, Bland P, Zvulunov A, Hennies HC, Kelsell DP ( 2011 ) . Identification of the underlying cause of autosomal recessive exfoliative ichthyosis reveals a role for a protease inhibitor in cell-cell adhesion . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 131 , S67 - S67 .

Kelsell DP, Blaydon DC, Biancheri P, Di W, Plagnol V, Cabral RM, MacDonald TT, Harper JI ( 2011 ) . Next-generation sequencing identifies a homozygous deletion mutation in an ADAM gene underlying autosomal recessive inflammatory skin and bowel disease . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 131 , S67 - S67 .

Cabral RM, Tattersall D, Patel V, Hatzimasoura E, Abrams DJ, South AP, Kelsell DP ( 2011 ) . The DSPII splice variant is critical for desmosome-mediated HaCaT keratinocyte adhesion . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 131 , S30 - S30 .

Scott CA, Tattersall D, O'Toole EA, Kelsell DP ( 2011 ) . Connexins in epidermal homeostasis and skin disease . Biochimica et Biophysica Acta - Biomembranes

Scott CA, O'Toole EA, Mohungoo MJ, Messenger A, Kelsell DP ( 2011 ) . Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis . Clin Exp Dermatol vol. 36 , ( 1 ) 88 - 90 .

Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP ( 2010 ) . Identification and characterisation of DSPla, a novel isoform of human desmoplakin . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 130 , S16 - S16 .

Cabral RM, Wan H, Cole CL, Abrams DJ, Kelsell DP, South AP ( 2010 ) . Identification and characterization of DSPIa, a novel isoform of human desmoplakin . CELL TISSUE RES vol. 341 , ( 1 ) 121 - 129 .

Cabral RM, Liu L, Hogan C, Dopping-Hepenstal PJC, Winik BC, Asial RA, Dobson R, Mein CA et al. ( 2010 ) . Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children . J Invest Dermatol vol. 130 , ( 6 ) 1543 - 1550 .

Leigh IM, Kelsell DP ( 2010 ) . Inherited skin disease . Oxford Textbook of Medicine , Oxford University Press (OUP)

Tattersall D, Cabral R, Toynbee M, Abrams D, South AP, Kelsell DP ( 2010 ) . Desmosomal abnormalities in cardiocutaneous syndromes . BRITISH JOURNAL OF DERMATOLOGY . vol. 162 , 940 - 940 .

Gulati A, Harwood CA, Purdie K, Leigh IM, Kelsell DP, Proby CM ( 2010 ) . Identification of therapeutic and prognostic biomarkers in keratinocyte carcinogenesis . BRITISH JOURNAL OF DERMATOLOGY . vol. 162 , 949 - 949 .

Rajpopat S, Poon DS, O'Toole EA, Kelsell DP ( 2010 ) . Loss of ABCA12 leads to dysregulated expression of the nuclear hormone receptor pathway molecules RXR-alpha, PPAR-delta and the lipid transporter ABCA1 . BRITISH JOURNAL OF DERMATOLOGY . vol. 162 , 939 - 939 .

Lambert SR, Purdie K, Gulati A, Leigh IM, Kelsell DP, Harwood CA, Proby C ( 2010 ) . PTPRD microdeletions are associated with metastatic cutaneous squamous cell carcinoma . BRITISH JOURNAL OF DERMATOLOGY . vol. 162 , 923 - 924 .

Tattersall D, Scott CA, Gray C, Zicha D, Kelsell DP ( 2009 ) . EKV mutant connexin 31 associated cell death is mediated by ER stress . Hum Mol Genet vol. 18 , ( 24 ) 4734 - 4745 .

Rajpopat S, O'Toole EA, Kelsell DP ( 2009 ) . Harlequin ichthyosis: prenatal diagnosis and a review of the clinical outcome of survivors . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 129 , S52 - S52 .

Vlachou C, O'Toole EA, Kelsell DP, Batta K ( 2009 ) . A new autosomal dominant pure hair-nail ectodermal dysplasia showing variable expression within a family . BRITISH JOURNAL OF DERMATOLOGY . vol. 161 , 126 - 126 .

Sinclair C, O'Toole EA, Paige D, El Bashir H, Robinson J, Dobson R, Lench N, Stevens HP et al. ( 2009 ) . Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population . Br J Dermatol vol. 160 , ( 5 ) 1113 - 1115 .

Rajpopat S, O'Toole EA, Kelsell DP ( 2009 ) . Prenatal diagnosis of harlequin ichthyosis, the search for novel mutations and a review of clinical outcome . BRITISH JOURNAL OF DERMATOLOGY . vol. 160 , 923 - 923 .

Scott CA, Tattersall D, Kelsell DP ( 2009 ) . Upregulation of endoplasmic reticulum stress response in cells expressing skin disease-associated connexin 31 mutants . BRITISH JOURNAL OF DERMATOLOGY . vol. 160 , 914 - 915 .

Thomas AC, Tattersall D, Norgett EE, O'Toole EA, Kelsell DP ( 2009 ) . Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis . Am J Pathol vol. 174 , ( 3 ) 970 - 978 .

Court DS, Kelsell DP ( 2009 ) . 5 Human genetics . Medical Sciences , Elsevier

Lambert S, Purdie K, Kelsell D, Proby C, Harwood C ( 2009 ) . <i>PTPRD</i> deletion is associated with aggressive and metastatic cutaneous squamous cell carcinoma . CANCER RESEARCH . vol. 69 ,

Aasen T, Kelsell DP ( 2009 ) . Connexins in Skin Biology . Connexins , Springer Nature

Ellis PE, Cano SD, Fear M, Kelsell DP, Ghali L, Crow JC, Perrett CW, MacLean AB ( 2008 ) . Reduced E-cadherin expression correlates with disease progression in Paget's disease of the vulva but not Paget's disease of the breast . Mod Pathol vol. 21 , ( 10 ) 1192 - 1199 .

Kelsell DP ( 2008 ) . Syndromic disorders of the desmosome: Insight from within the skin . EUROPEAN JOURNAL OF CELL BIOLOGY . vol. 87 , 442 - 442 .

Matos TD, Caria H, Simoes-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP, Fialho G ( 2008 ) . A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss . HEARING RES vol. 240 , ( 1-2 ) 87 - 92 .

Cabral RM, Winik BC, Asial RA, Mein C, Baselga P, Doplaing-Hepenstal PI, Boente MC, Kelsell DP et al. ( 2008 ) . A novel plakoglobin mutation reveals distinct roles for plakoglobin in heart and skin . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 128 , S111 - S111 .

Tattersall D, Scott CA, Kelsell DP ( 2008 ) . Connexins: non gap junction functions? . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 128 , S118 - S118 .

Tattersall D, Thomas AC, O'Toole EA, Kelsell DP ( 2008 ) . Elucidating the role of ABCA12 in harlequin ichthyosis . BRITISH JOURNAL OF DERMATOLOGY . vol. 158 , 890 - 890 .

South AP, Pourreyron C, Foerster J, Mao X, Purdie K, Hogan C, Mein C, Bruckner-Tuderman L et al. ( 2008 ) . Gene expression profiling of cultured squamous cell carcinoma keratinocytes identifies a pattern of gene expression which predicts invasive capacity . BRITISH JOURNAL OF DERMATOLOGY . vol. 158 , 883 - 883 .

Kelsell DP, Thomas AC, Tattersall D, O'Toole EA ( 2008 ) . Genetic and functional mechanisms in harlequin ichthyosis . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 128 , S116 - S116 .

Gulati A, Harwood CA, Purdie K, Kelsell DP, Proby CM ( 2008 ) . Identification of therapeutic and prognostic biomarkers in keratinocyte carcinogenesis . BRITISH JOURNAL OF DERMATOLOGY . vol. 158 , 911 - 911 .

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

Lambert S, Purdie K, Kelsell DP, Harwood CA, Proby CM ( 2008 ) . PTPRD as a candidate tumour suppressor gene in cutaneous squamous cell carcinoma . BRITISH JOURNAL OF DERMATOLOGY . vol. 158 , 910 - 911 .

Thomas AC, Sinclair C, Mahmud N, Cullup T, Mellerio JE, Harper J, Dale BA, Turc-Carel C et al. ( 2008 ) . Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis . Br J Dermatol vol. 158 , ( 3 ) 611 - 613 .

Matos TD, Caria H, Simões-Teixeira H, Aasen T, Nickel R, Jagger DJ, O'Neill A, Kelsell DP et al. ( 2007 ) . A novel hearing-loss-related mutation occurring in the GJB2 basal promoter . J Med Genet vol. 44 , ( 11 ) 721 - 725 .

SPURR NK, KELSELL D, ROOKE L, CAVALLI‐SFORZA LL, BOWCOCK A, FEDER J ( 2007 ) . Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms . Annals of Human Genetics vol. 55 , ( 2 ) 141 - 150 .

KELSELL DP, ROOKE L, WARNE D, BOUZYK M, CULLIN L, COX S, WEST L, POVEY S et al. ( 2007 ) . Development of a panel of monochromosomal somatic cell hybrids for rapid gene mapping . Annals of Human Genetics vol. 59 , ( 2 ) 233 - 241 .

Man YKS, Trolove C, Tattersall D, Thomas AC, Papakonstantinopoulou A, Patel D, Scott C, Chong J et al. ( 2007 ) . A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro . J Membr Biol vol. 218 , ( 1-3 ) 29 - 37 .

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

Purdie KJ, Lambert SR, Teh M-T, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM et al. ( 2007 ) . Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis . Genes Chromosomes Cancer vol. 46 , ( 7 ) 661 - 669 .

Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MHA, Leigh IM ( 2007 ) . Fine genetic mapping of diffuse non‐epidermolytic palmoplantar keratoderma to chromosome 12q11‐q13: exclusion of the mapped type II keratins . Experimental Dermatology vol. 8 , ( 5 ) 388 - 391 .

Sinclair C, O'Toole EA, Paige D, Mein CA, Kelsell DP ( 2007 ) . A comprehensive survey of 28 candidate genes for atopic dermatitis using a hapTAG approach in a unique Bangladeshi population of East London . BRITISH JOURNAL OF DERMATOLOGY . vol. 156 , 1103 - 1103 .

Purdie K, Lambert S, Teh M, Chaplin T, Molloy G, Raghavan M, Kelsell DP, Leigh IM et al. ( 2007 ) . Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis . BRITISH JOURNAL OF DERMATOLOGY . vol. 156 , 1100 - 1101 .

Tattersall D, Scott CA, Aasen T, Unsworth HC, Kelsell DP ( 2007 ) . Analysis of wild-type and mutant connexin 31 reveals nongap junction functions and altered cell signalling . BRITISH JOURNAL OF DERMATOLOGY . vol. 156 , 1099 - 1100 .

Mao X, Pourreyron C, Purdie K, Holder MV, Baksh N, Wong T, Fassihi H, Volz A et al. ( 2007 ) . Identification of the molecular signatures in cutaneous squamous cell carcinoma excised from patients with recessive dystrophic epidermolysis bullosa by using integrated genomic techniques . BRITISH JOURNAL OF DERMATOLOGY . vol. 156 , 1110 - 1110 .

Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SYK, Bodemer C, Prins C, Antille C, Saurat J-H et al. ( 2007 ) . Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients . Br J Dermatol vol. 156 , ( 5 ) 1015 - 1019 .

van Koningsveld R, Fitchett CJ, Rugg EL, Kelsell DP, O'Toole EA ( 2007 ) . The effect of pachyonychia congenita type 1 mutations in keratinocyte adhesion and desmosome formation and associated signal transduction . BRITISH JOURNAL OF DERMATOLOGY . vol. 156 , 1099 - 1099 .

Blaydon DC, Philpott MP, Kelsell DP ( 2007 ) . R-spondins in cutaneous biology: Nails and cancer . Cell Cycle vol. 6 , ( 8 ) 895 - 897 .

Blaydon DC, Philpott MP, Kelsell DP ( 2007 ) . R-spondins in cutaneous biology: nails and cancer . Cell Cycle vol. 6 , ( 8 ) 895 - 897 .

Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam JS, Yoon JK et al. ( 2007 ) . Mutations in R-spondin 4 (RSPO4), a novel secreted protein involved in Wnt signaling, underlie inherited anonychia . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 127 , S94 - S94 .

Kelsell DP, Blaydon D, Mein CA ( 2007 ) . Identifying Mutations in Single Gene Disorders . 145 - 164 .

Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM et al. ( 2007 ) . Erratum: Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (Journal of Cell Science vol. 120 (330-339)) . Journal of Cell Science vol. 120 , ( 5 )

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

Teh M-T, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM et al. ( 2007 ) . Role for WNT16B in human epidermal keratinocyte proliferation and differentiation . J Cell Sci vol. 120 , ( Pt 2 ) 330 - 339 .

Unsworth HC, Aasen T, McElwaine S, Kelsell DP ( 2007 ) . Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth . Hum Mol Genet vol. 16 , ( 2 ) 165 - 172 .

Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E et al. ( 2006 ) . ABCA12 is the major harlequin ichthyosis gene . J Invest Dermatol vol. 126 , ( 11 ) 2408 - 2413 .

Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh M-T, Rüschendorf F, Sinclair C, Hopsu-Havu VK et al. ( 2006 ) . The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia . Nat Genet vol. 38 , ( 11 ) 1245 - 1247 .

Walsh FS, Barton CH, Putt W, Moore SE, Kelsell D, Spurr N, Goodfellow PN ( 2006 ) . N‐Cadherin Gene Maps to Human Chromosome 18 and Is Not Linked to the E‐Cadherin Gene . Journal of Neurochemistry vol. 55 , ( 3 ) 805 - 812 .

Purdie K, Lambert S, Harwood C, Teh T, Kelsell D, Young B, Leigh I, Proby C ( 2006 ) . Allelic imbalances and chromosome 9p microdeletion demonstrated in cutaneous squamous cell carcinomas using single nucleotide polymorphism microarray analysis . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 126 , 87 - 87 .

Man S, Unsworth H, Aasen T, Trolove C, Tattersall D, Thomas A, O'Toole E, Navsaria H et al. ( 2006 ) . Connexins have isoform and tissue specific functions and are critical for skin differentiation, migration, wound healing and bacterial invasion . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 126 , 10 - 10 .

Sinclair C, O'Toole E, Leigh I, Paige D, Elbashir H, Stevens H, Booy R, Mein C et al. ( 2006 ) . Filaggrin mutation is not a genetic risk factor for atopic dermatitis in the Bangladeshi population . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 126 , 40 - 40 .

Blaydon DC, Ishii Y, O'Toole EA, Teh MT, Hopsu-Havu VK, Moss C, Ruschendorf F, Wajid M et al. ( 2006 ) . R-spondin 4 (RSPO4), a novel secreted protein implicated in Wnt signalling, is mutated in inherited anonychia . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 126 , 31 - 31 .

Cornelis RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BAJ, Tonin P, Hamann U et al. ( 2006 ) . High allele loss rates at I7q I2‐q2I in breast and ovarian tumors from BRCAI‐linked families . Genes Chromosomes and Cancer vol. 13 , ( 3 ) 203 - 210 .

Rajpar SF, Cullup T, Kelsell DP, Moss C ( 2006 ) . A novel ABCA12 mutation underlying a case of Harlequin ichthyosis . Br J Dermatol vol. 155 , ( 1 ) 204 - 206 .

Norgett EE, Lucke TW, Bowers B, Munro CS, Leigh IM, Kelsell DP ( 2006 ) . Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin . J Invest Dermatol vol. 126 , ( 7 ) 1651 - 1654 .

Thomas AC, Norgett EE, Cullup T, O'Toole EA, Kelsell DP ( 2006 ) . Genetic and functional mechanisms of ABCA12-associated harlequin ichthyosis . BRITISH JOURNAL OF DERMATOLOGY . vol. 155 , 236 - 236 .

( 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 )

Mak RKH, Paige D, Leigh IM, Kelsell DP, O’toole EA ( 2006 ) . Two siblings with harlequin ichthyosis, clinical and molecular findings . Annales de Dermatologie et de Vénéréologie vol. 133 , ( 6-7 )

Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MVL, Bukauskas FF ( 2006 ) . Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness . Proc Natl Acad Sci U S A vol. 103 , ( 13 ) 5213 - 5218 .

Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H, Sahin SE, Dupont E et al. ( 2006 ) . Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome . J Med Genet vol. 43 , ( 2 )

Common JEA, O'Toole EA, Leigh IM, Thomas A, Griffiths WAD, Venning V, Grabczynska S, Peris Z et al. ( 2005 ) . Clinical and genetic heterogeneity of erythrokeratoderma variabilis . J Invest Dermatol vol. 125 , ( 5 ) 920 - 927 .

Common JEA, Bitner-Glindzicz M, O'Toole EA, Barnes MR, Jenkins L, Forge A, Kelsell DP ( 2005 ) . Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6-D13S1830) . Clin Exp Dermatol vol. 30 , ( 6 ) 688 - 693 .

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 .

Teh M-T, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM et al. ( 2005 ) . Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event . Cancer Res vol. 65 , ( 19 ) 8597 - 8603 .

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 .

Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Kennedy CT et al. ( 2005 ) . Clinical and molecular features of Harlequin ichthyosis . BRITISH JOURNAL OF DERMATOLOGY . vol. 153 , 5 - 5 .

Kelsell DP, Norgett EE, Unsworth H, Teh M-T, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA et al. ( 2005 ) . Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis . Am J Hum Genet vol. 76 , ( 5 ) 794 - 803 .

Di W-L, Gu Y, Common JEA, Aasen T, O'Toole EA, Kelsell DP, Zicha D ( 2005 ) . Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis . J Cell Sci vol. 118 , ( Pt 7 ) 1505 - 1514 .

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 .

Kelsell DP, Norgett E, Unsworth H, Teh M, Cullop T, Dale B, Leigh IM, Eady RA et al. ( 2005 ) . Mutations in ABCA12 underlie harlequin ichthyosis . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 124 , A75 - A75 .

Aasen T, Unsworth H, Di W, Kelsell DP ( 2005 ) . The gap junction protein connexin 31 regulates key aspects of cell differentiation . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 124 , A64 - A64 .

Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I et al. ( 2005 ) . Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome . Arch Dermatol vol. 141 , ( 2 ) 199 - 206 .

Kelsell DP ( 2004 ) . Connexin mutations in human disease . Exp Dermatol vol. 13 , ( 10 ) 661 - 662 .

Rastan S, Hough T, Kierman A, Hardisty R, Erven A, Gray IC, Voeling S, Isaacs A et al. ( 2004 ) . Towards a mutant map of the mouse - new models of neurological, behavioural, deafness, bone, renal and blood disorders . GENETICA . vol. 122 , 47 - 49 .

Gu Y, Di WL, Kelsell DP, Zicha D ( 2004 ) . Quantitative fluorescence resonance energy transfer (FRET) measurement with acceptor photobleaching and spectral unmixing . J Microsc vol. 215 , ( Pt 2 ) 162 - 173 .

Common JEA, Di W-L, Davies D, Kelsell DP ( 2004 ) . Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival . J Med Genet vol. 41 , ( 7 ) 573 - 575 .

Norgett EE, Wolf F, Balme B, Leigh IM, Perrot H, Kelsell DP, Haftek M ( 2004 ) . Hereditary 'white nails': a genetic and structural study . Br J Dermatol vol. 151 , ( 1 ) 65 - 72 .

Skerrett IM, Di W-L, Kasperek EM, Kelsell DP, Nicholson BJ ( 2004 ) . Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T . FASEB J vol. 18 , ( 7 ) 860 - 862 .

Langan JE, Cole CG, Huckle EJ, Byrne S, McRonald FE, Rowbottom L, Ellis A, Shaw JM et al. ( 2004 ) . Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene . Hum Genet vol. 114 , ( 6 ) 534 - 540 .

Brown VL, Harwood CA, Crook T, Cronin JG, Kelsell DP, Proby CM ( 2004 ) . p16INK4a and p14ARF tumor suppressor genes are commonly inactivated in cutaneous squamous cell carcinoma . J Invest Dermatol vol. 122 , ( 5 ) 1284 - 1292 .

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 .

Hatsell SJ, Stevens H, Jackson AP, Kelsell DP, Zvulunov A ( 2003 ) . An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13 . Br J Dermatol vol. 149 , ( 1 ) 174 - 180 .

Common J, Di W-L, Davies D, Galvin H, Leigh I, O'Toole E, Kelsell D ( 2003 ) . Cellular Mechanisms of Mutant Connexins in Skin Disease and Hearing Loss . Cell Communication & Adhesion vol. 10 , ( 4 ) 347 - 351 .

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 .

Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E et al. ( 2003 ) . Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency . Hum Mol Genet vol. 12 , ( 11 ) 1241 - 1252 .

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 .

Kelsell D, Di WL, Monypenny J, Common J, Davies D, Leigh I, Zicha D ( 2003 ) . Cell death is characteristic of skin disease-associated connexin 31 mutations . BRITISH JOURNAL OF DERMATOLOGY . vol. 148 , 849 - 849 .

Brown VL, Harwood CA, Kelsell DP, Proby CM ( 2003 ) . Dysregulation of p16(INK4a) and p14(ARF) tumour suppressor genes in the pathogenesis of cutaneous squamous cell carcinomas . BRITISH JOURNAL OF DERMATOLOGY . vol. 148 , 854 - 854 .

Norgett EE, Leigh IM, Kelsell DP ( 2003 ) . Genetic and immunohistochemical investigation of tight junction proteins in normal and hyperproliferative skin . BRITISH JOURNAL OF DERMATOLOGY . vol. 148 , 860 - 860 .

Common JEA, Di W-L, Davies D, Galvin H, Leigh IM, O'Toole EA, Kelsell DP ( 2003 ) . Cellular mechanisms of mutant connexins in skin disease and hearing loss . Cell Commun Adhes . vol. 10 , 347 - 351 .

Huen AC, Park JK, Godsel LM, Chen X, Bannon LJ, Amargo EV, Hudson TY, Mongui AK et al. ( 2002 ) . Intermediate filament-membrane attachments function synergistically with actin-dependent contacts to regulate intercellular adhesive strength . Journal of Cell Biology. vol. 159 , ( 6 ) 1005 - 1017 .

Edmunds SC, Kelsell DP ( 2002 ) . Double jeopardy: Ras and CDK4 co-expression in skin cancer . Trends Mol Med vol. 8 , ( 12 )

Common JEA, Becker D, Di W-L, Leigh IM, O'Toole EA, Kelsell DP ( 2002 ) . Functional studies of human skin disease- and deafness-associated connexin 30 mutations . Biochem Biophys Res Commun vol. 298 , ( 5 ) 651 - 656 .

Risk JM, Evans KE, Jones J, Langan JE, Rowbottom L, McRonald FE, Mills HS, Ellis A et al. ( 2002 ) . Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus . Oncogene vol. 21 , ( 41 ) 6395 - 6402 .

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

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

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

Di W-L, Monypenny J, Common JEA, Kennedy CTC, Holland KA, Leigh IM, Rugg EL, Zicha D et al. ( 2002 ) . Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations . Hum Mol Genet vol. 11 , ( 17 ) 2005 - 2014 .

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

Brown VL, Proby CM, Barnes DM, Kelsell DP ( 2002 ) . Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumours . Br J Cancer vol. 87 , ( 2 ) 208 - 211 .

Rugg EL, Common JEA, Wilgoss A, Stevens HP, Buchan J, Leigh IM, Kelsell DP ( 2002 ) . Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography . Br J Dermatol vol. 146 , ( 6 ) 952 - 957 .

Gottfried I, Landau M, Glaser F, Di W-L, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP et al. ( 2002 ) . A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein . Hum Mol Genet vol. 11 , ( 11 ) 1311 - 1316 .

Common JEA, Di W, Leigh IM, Kelsell DP ( 2002 ) . Genetic and functional analysis of connexins in skin disease and deafness . EUROPEAN JOURNAL OF HUMAN GENETICS . vol. 10 , 68 - 68 .

( 2002 ) . Errata . Journal of Investigative Dermatology vol. 118 , ( 4 ) 741 - 742 .

Kelsell DP, Di W, Common JEA, Holland KA, Rugg EL, Leigh IM ( 2002 ) . Functional analyses of connexin mutations in keratinocytes (vol 117, pg 775, 2001) . J INVEST DERMATOL vol. 118 , ( 4 ) 741 - 741 .

Tomlinson IPM, Alam NA, Rowan AJ, Barclay E, Jaeger EEM, Kelsell D, Leigh I, Gorman P et al. ( 2002 ) . Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer . Nat Genet vol. 30 , ( 4 ) 406 - 410 .

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

Norgett EE, Kelsell DP ( 2002 ) . SPINK5: both rare and common skin disease . Trends Mol Med vol. 8 , ( 1 )

Isaacs A, Davies K, Hunter A, Nolan P, Vizor L, Peters J, Gale D, Kelsell D et al. ( 2001 ) . Identification Of Two New Pmp22 Mouse Mutants Using Large‐Scale Mutagenesis And A Novel Rapid Mapping Strategy . Journal of the Peripheral Nervous System vol. 6 , ( 1 ) 65 - 65 .

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

Di WL, Rugg EL, Leigh IM, Kelsell DP ( 2001 ) . Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31 . J Invest Dermatol vol. 117 , ( 4 ) 958 - 964 .

Neill GW, Kelsell DP ( 2001 ) . Spotting prostate cancer . Trends Mol Med vol. 7 , ( 10 )

Kelsell DP, Di W, Common JEA, Rugg EL, Leigh IM ( 2001 ) . Functional analyses of connexin mutations in keratinocytes . J INVEST DERMATOL vol. 117 , ( 3 ) 775 - 775 .

O'Toole EA, Di WL, Common J, Leigh IM, Kelsell DP ( 2001 ) . Heterogeneity of genetic mutations in erythrokeratodermas . J INVEST DERMATOL vol. 117 , ( 3 ) 797 - 797 .

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

Fletcher S, Baker V, Fentem J, Basketter D, Kelsell D ( 2001 ) . Microarray analysis of gene expression following exposure to skin irritants . J INVEST DERMATOL vol. 117 , ( 2 ) 528 - 528 .

Rickard S, Kelsell DP, Sirimana T, Rajput K, MacArdle B, Bitner-Glindzicz M ( 2001 ) . Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families . J Med Genet vol. 38 , ( 8 ) 530 - 533 .

Griffith AJ ( 2001 ) . Genetic analysis of the connexin-26 M34T variant . Journal of Medical Genetics vol. 38 , ( 7 )

Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E et al. ( 2001 ) . Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43 . Am J Hum Genet vol. 68 , ( 5 ) 1264 - 1269 .

Fear MW, Kelsell DP ( 2001 ) . The two-hybrid cancer suicide pill . Trends in Molecular Medicine vol. 7 , ( 5 )

Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP ( 2001 ) . Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds . J Invest Dermatol vol. 116 , ( 4 ) 606 - 609 .

Kelsell DP, Di WL, Houseman MJ ( 2001 ) . Connexin mutations in skin disease and hearing loss . Am J Hum Genet vol. 68 , ( 3 ) 559 - 568 .

Hunt DM, Rickman L, Whittock NV, Eady RA, Simrak D, Dopping-Hepenstal PJ, Stevens HP, Armstrong DK et al. ( 2001 ) . Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma . Eur J Hum Genet vol. 9 , ( 3 ) 197 - 203 .

Fear MW, Hatsell SJ, Leigh IM, Kelsell DP ( 2001 ) . Whats new in genodermatoses? . Keio J Med vol. 50 , ( 1 ) 35 - 38 .

Di WL, Common JEA, Kelsell DP ( 2001 ) . Connexin 26 expression and mutation analysis in epidermal disease . Cell Communication and Adhesion vol. 8 , ( 4-6 ) 415 - 418 .

Di WL, Common JE, Kelsell DP ( 2001 ) . Connexin 26 expression and mutation analysis in epidermal disease . Cell Commun Adhes vol. 8 , ( 4-6 ) 415 - 418 .

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

Fletcher ST, Baker VA, Fentem JH, Basketter DA, Kelsell DP ( 2001 ) . Gene expression analysis of EpiDerm following exposure to SLS using cDNA microarrays . Toxicol In Vitro . vol. 15 , 393 - 398 .

Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR et al. ( 2001 ) . Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss . J Med Genet vol. 38 , ( 1 ) 20 - 25 .

Kelsell DP, Dunlop J, Hodgins MB ( 2001 ) . Human diseases: clues to cracking the connexin code? . Trends Cell Biol vol. 11 , ( 1 ) 2 - 6 .

López-Bigas N, Rabionet R, Arbonés ML, Estivill X ( 2001 ) . R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? . Eur J Hum Genet vol. 9 , ( 1 )

Kelsell D ( 2001 ) . R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease? Reply . EUR J HUM GENET vol. 9 , ( 1 ) 70 - 70 .

Ishida-Yamamoto A, Kelsell D, Common J, Houseman MJ, Hashimoto M, Shibaki H, Asano K, Takahashi H et al. ( 2000 ) . A case of erythrokeratoderma variabilis without mutations in connexin 31 . BRIT J DERMATOL vol. 143 , ( 6 ) 1283 - 1287 .

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

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

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas J-CR, Common J, Purkis PE, Whittock N, Leigh IM et al. ( 2000 ) . Recessive mutation in desmoplakin disrupts desmoplakin–intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma . Human Molecular Genetics vol. 9 , ( 18 ) 2761 - 2766 .

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 .

Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C et al. ( 2000 ) . Mutations in GJB6 cause hidrotic ectodermal dysplasia . Nature Genetics vol. 26 , ( 2 ) 142 - 144 .

Kelsell DP ( 2000 ) . Genetic basis of psoriasis . Trends in Molecular Medicine vol. 6 , ( 8 )

Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP et al. ( 2000 ) . Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy . Human Molecular Genetics vol. 9 , ( 12 ) 1865 - 1871 .

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

Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM ( 2000 ) . Erratum: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family . European Journal of Human Genetics vol. 8 , ( 6 ) 468 - 468 .

Kibar Z, Dubé M-P, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U et al. ( 2000 ) . Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping . European Journal of Human Genetics vol. 8 , ( 5 ) 372 - 380 .

Kelsell DP ( 2000 ) . CIMPle cancer genetic profiles . Trends in Molecular Medicine vol. 6 , ( 4 )

Kelsell DP, Wilgoss AL, Richard G, Stevens HP, Munro CS, Leigh IM ( 2000 ) . Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family . European Journal of Human Genetics vol. 8 , ( 2 ) 141 - 144 .

Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé J-L, Paradisi M et al. ( 2000 ) . Localization of the Netherton Syndrome Gene to Chromosome 5q32, by Linkage Analysis and Homozygosity Mapping . American Journal of Human Genetics vol. 66 , ( 3 ) 914 - 921 .

Hanby AM, Kelsell DP, Potts HW, Gillett CE, Bishop DT, Spurr NK, Barnes DM ( 2000 ) . Association between loss of heterozygosity of BRCA1 and BRCA2 and morphological attributes of sporadic breast cancer . International Journal of Cancer vol. 88 , ( 2 ) 204 - 208 .

Hatsell SJ, Norgett EE, Common JEA, Cabezas JCR, Carvajal-Huerta L, Stevens HP, Kelsell DP ( 2000 ) . Disruption of desmoplakin/intermediate filament interactions results in keratoderma, woolly hair and cardiomyopathy . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 67 , 382 - 382 .

Talas U, Dunlop J, Khalaf S, Leigh IM, Kelsell DP ( 2000 ) . Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism . Journal of Investigative Dermatology vol. 114 , ( 1 ) 165 - 170 .

Wilgoss A, Leigh IM, Kelsell DP, Barnes MR, Dopping-Hepenstal P, Eady RAJ, Walter JM, Kennedy CTC ( 1999 ) . Identification of a Novel Mutation R42P in the Gap Junction Protein β-3 Associated with Autosomal Dominant Erythrokeratoderma Variabilis . Journal of Investigative Dermatology vol. 113 , ( 6 ) 1119 - 1122 .

Risk JM, Ruhrberg C, Hennies H-C, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM et al. ( 1999 ) . Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25 . Genomics vol. 59 , ( 2 ) 234 - 242 .

Rickman L, Šimrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RAJ, Leigh IM et al. ( 1999 ) . N-Terminal Deletion in a Desmosomal Cadherin Causes the Autosomal Dominant Skin Disease Striate Palmoplantar Keratoderma . Human Molecular Genetics vol. 8 , ( 6 ) 971 - 976 .

Stevens HP, Choon SE, Hennies HC, Kelsell DP ( 1999 ) . Evidence for a single genetic locus in Clouston's hidrotic ectodermal dysplasia . British Journal of Dermatology vol. 140 , ( 5 ) 963 - 964 .

Kelsell DP, Stevens HP ( 1999 ) . The palmoplantar keratodermas: much more than palms and soles . Trends in Molecular Medicine vol. 5 , ( 3 ) 107 - 113 .

Gray IC, Bouzyk M, Kelsell D, Gale D, Latham I, Chase J, Ng SK, Nolan P et al. ( 1999 ) . A large scale mouse genetics programme to identify new phenotypes of relevance to human disease . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 65 , A56 - A56 .

Kelsell D, Wilgoss A, Leigh IM ( 1999 ) . Gap junction mutations in skin disease and deafness: genotype versus phenotype . JOURNAL OF MEDICAL GENETICS . vol. 36 , S25 - S25 .

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 .