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Research

Publications: Prof David Kelsell

Chao-Chu J, Murtough S, Zaman N, Pennington DJ, Blaydon DC, Kelsell DP ( 2021 ) . 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 50<sup>th</sup> Anniversary of ESDR . Journal of Investigative Dermatology vol. 140 , ( 9 ) S145 - S146 .
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 .
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, Lacaz Martins E, Kelsell D, Machado Filho CDS ( 2020 ) . Clinical variability of the GJB4:c.35G &gt; A gene variant: a study of a large Brazilian erythrokeratodermia pedigree . International Journal of Dermatology vol. 59 , ( 6 ) 722 - 725 .
Maruthappu T, Kelsell DP ( 2020 ) . Inherited skin disease . Oxford Textbook of Medicine ,
Temel ¿G, Karaka¿ B, ¿eker, Turkgenç B, Zorlu, Sar¿cao¿lu H, O¿ur, Kütük et al. ( 2019 ) . A novel homozygous nonsense mutation in CAST associated with PLACK syndrome . Cell and Tissue Research vol. 378 , ( 2 ) 267 - 277 .
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 ,
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 )
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 .
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<sup>++</sup> CD16<sup>+</sup> monocytes ex vivo and reduction in intermediate monocytes with immune paresis in acute pancreatitis and acute alcoholic hepatitis . Frontiers in Immunology vol. 10 , ( AUG )
Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng KE, 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 )
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 ) 2577 - 2588 .
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 .
Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM et al. ( 2018 ) . Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair . Journal of Investigative Dermatology vol. 138 , ( 4 ) 984 - 987 .
Puzzi L, Borin D, Martinelli V, Mestroni L, Kelsell DP, Sbaizero O ( 2018 ) . Cellular biomechanics impairment in keratinocytes is associated with a C-terminal truncated desmoplakin: An atomic force microscopy investigation . Micron vol. 106 , 27 - 33 .
Russell MA, Pigors M, Houssen ME, Manson A, Kelsell D, Longhurst H, Morgan NG ( 2018 ) . A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID) . Clinical Immunology vol. 187 , 132 - 136 .
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 .
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 CW ( 2017 ) . Corrigendum: ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phospholipase C γ1 and protein kinase C pathways . Scientific reports vol. 7 ,
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 ,
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 .
Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K ( 2016 ) . Acral peeling skin syndrome associated with a novel CSTA gene mutation . Clinical and Experimental Dermatology vol. 41 , ( 4 ) 394 - 398 .
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 .
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 .
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 )
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 .
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 .
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 .
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 .
Getsios S, Kelsell DP, Forge A ( 2015 ) . Junctions in human health and inherited disease . Cell and Tissue Research
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 )
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 .
Notari M, Hu Y, Sutendra G, Dedei¿ 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 .
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 )
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 .
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 .
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 .
Blaydon DC, Kelsell DP ( 2014 ) . Defective channels lead to an impaired skin barrier . J Cell Sci vol. 127 , ( Pt 20 ) 4343 - 4350 .
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
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, Chikh A, Kelsell D ( 2014 ) . iRhom2: a novel regulator of wound healing . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 134 , S98 - S98 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 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 .
Rahman M, Herath D, Selway J, Roy A, Nadendla S, Kelsell D, Harwood C, Philpott M et al. ( 2012 ) . In vitro 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 .
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 .
Kelsell DP ( 2012 ) . High Throughput Sequencing: New Genes for Epithelial Disease . JOURNAL OF PATHOLOGY . vol. 226 , S2 - S2 .
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 ) . Inflammatory Bowel Disease and ADAM17 Deletion REPLY . NEW ENGLAND JOURNAL OF MEDICINE vol. 366 , ( 2 ) 190 - 190 .
MacDonald TT, Harper JI, Kelsell DP ( 2012 ) . The authors reply . New England Journal of Medicine vol. 366 , ( 2 )
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 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, Kasperavi¿i¿t¿ D, Williams J et al. ( 2012 ) . Characterisation and validation of insertions and deletions in 173 patient exomes . PLoS One vol. 7 , ( 12 )
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 .
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: Third Edition , vol. 1 ,
O'Toole EA, Kelsell DP ( 2011 ) . Harlequin Ichthyosis . Harper's Textbook of Pediatric Dermatology: Third Edition , vol. 1 ,
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 .
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 .
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