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Publications:  Prof David Kelsell

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. Eur J Heart Fail vol. 21, (8) 955-964.
10.1002/ejhf.1534
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. Br J Dermatol vol. 180, (5) 1114-1122.
10.1111/bjd.17388
https://qmro.qmul.ac.uk/xmlui/handle/123456789/49603
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
10.1016/j.jid.2018.05.013
https://qmro.qmul.ac.uk/xmlui/handle/123456789/39403
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 Res vol. 78, (10) 2577-2588.
10.1158/0008-5472.CAN-17-2897
https://qmro.qmul.ac.uk/xmlui/handle/123456789/42287
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. Clin Exp Dermatol vol. 43, (3) 357-359.
10.1111/ced.13329
https://qmro.qmul.ac.uk/xmlui/handle/123456789/34303
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. J Invest Dermatol vol. 138, (4) 984-987.
10.1016/j.jid.2017.10.031
https://qmro.qmul.ac.uk/xmlui/handle/123456789/28664
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. Nat Commun vol. 9, (1)
10.1038/s41467-018-03470-y
https://qmro.qmul.ac.uk/xmlui/handle/123456789/36456
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.
10.1016/j.micron.2017.12.005
https://qmro.qmul.ac.uk/xmlui/handle/123456789/31483
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). Clin Immunol vol. 187, 132-136.
10.1016/j.clim.2017.11.007
https://qmro.qmul.ac.uk/xmlui/handle/123456789/31330
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.
10.1111/bjd.15642
https://qmro.qmul.ac.uk/xmlui/handle/123456789/49350
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. J Invest Dermatol vol. 137, (11) 2344-2353.
10.1016/j.jid.2017.06.028
https://qmro.qmul.ac.uk/xmlui/handle/123456789/28184
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.
10.1038/ncomms14174
https://qmro.qmul.ac.uk/xmlui/handle/123456789/19007
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,
10.1038/srep39780
https://qmro.qmul.ac.uk/xmlui/handle/123456789/19409
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
10.1016/j.ajhg.2016.06.004
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15546
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. Am J Hum Genet vol. 99, (1) 115-124.
10.1016/j.ajhg.2016.05.002
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15700
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.
10.1159/000446619
https://qmro.qmul.ac.uk/xmlui/handle/123456789/16265
Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K(2016). Acral peeling skin syndrome associated with a novel CSTA gene mutation. Clin Exp Dermatol vol. 41, (4) 394-398.
10.1111/ced.12777
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.
10.1111/bjd.14469
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
10.1111/bjd.14617
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.
10.1053/j.gastro.2016.01.035
Sharpe M, Goldsmith KA, Johnson AL, Chalder T, Walker J, White PD(2016). Patient reaction to the PACE trial - Authors' reply. The Lancet Psychiatry vol. 3, (2) e8-e9.
10.1016/S2215-0366(16)00018-3
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. Sci Signal vol. 8, (401)
10.1126/scisignal.aac5356
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18389
Ellis A, Risk JM, Maruthappu T, Kelsell DP(2015). Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms. Orphanet J Rare Dis vol. 10,
10.1186/s13023-015-0346-2
https://qmro.qmul.ac.uk/xmlui/handle/123456789/16802
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.
Salas-Alanis JC, Wozniak E, Mein CA, Duran Mckinster CC, 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. Ann Dermatol vol. 27, (4) 474-477.
10.5021/ad.2015.27.4.474
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23230
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. Arch Oral Biol vol. 60, (7) 982-988.
10.1016/j.archoralbio.2015.02.023
https://qmro.qmul.ac.uk/xmlui/handle/123456789/11273
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. Br J Dermatol vol. 173, (1) 285-287.
10.1111/bjd.13627
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.
10.1161/CIRCULATIONAHA.115.014371
Getsios S, Kelsell DP, Forge A(2015). Junctions in human health and inherited disease. Cell and Tissue Research vol. 360, (3) 435-438.
10.1007/s00441-015-2171-2
Getsios S, Kelsell DP, Forge A(2015). Junctions in human health and inherited disease. Cell Tissue Res vol. 360, (3) 435-438.
10.1007/s00441-015-2171-2
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.
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. Am J Hum Genet vol. 96, (3) 440-447.
10.1016/j.ajhg.2014.12.026
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23763
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. Proc Natl Acad Sci U S A vol. 112, (9) E973-E981.
10.1073/pnas.1408111112
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.
10.1016/j.gene.2014.12.002
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)
10.1371/journal.pone.0120091
https://qmro.qmul.ac.uk/xmlui/handle/123456789/17302
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.
10.1016/j.gene.2014.12.002
https://qmro.qmul.ac.uk/xmlui/handle/123456789/6726
Blaydon DC, Kelsell DP(2014). Defective channels lead to an impaired skin barrier. J Cell Sci vol. 127, (Pt 20) 4343-4350.
10.1242/jcs.154633
Brooke MA, O'Toole EA, Kelsell DP(2014). Exoming into rare skin disease: EGFR deficiency. J Invest Dermatol vol. 134, (10) 2486-2488.
10.1038/jid.2014.228
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.
10.3390/genes5030615
https://qmro.qmul.ac.uk/xmlui/handle/123456789/25678
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.
10.1093/hmg/ddu120
https://qmro.qmul.ac.uk/xmlui/handle/123456789/23225
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.
10.3109/15419061.2014.908854
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.
10.1136/gutjnl-2012-303581
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.
10.1016/j.ajhg.2013.06.008
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.
10.1016/j.archoralbio.2012.12.008
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.
10.1016/j.archoralbio.2012.12.008
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.
10.1007/s00441-013-1559-0
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.
10.1038/jid.2012.332
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.
10.1007/s00441-013-1559-0
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.
10.1038/jid.2012.289
Simpson C, Kelsell DP, Marchès O(2013). Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell and Tissue Research vol. 351, (1) 107-116.
10.1007/s00441-012-1502-9
Simpson C, Kelsell DP, Marchès O(2013). Connexin 26 facilitates gastrointestinal bacterial infection in vitro. Cell Tissue Res vol. 351, (1) 107-116.
10.1007/s00441-012-1502-9
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.
10.1007/s00441-012-1542-1
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.
10.1038/jid.2012.332
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.
10.1016/j.bbamem.2011.09.004
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)
10.1002/ijc.27333
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.
10.1002/ijc.27333
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.
10.1242/jcs.084152
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.
10.1016/j.ajhg.2011.12.008
MacDonald TT, Harper JI, Kelsell DP(2012). Inflammatory Bowel Disease and ADAM17 Deletion REPLY. NEW ENGLAND JOURNAL OF MEDICINE vol. 366, (2) 190-190.
10.1056/nejmc1113859
MacDonald TT, Harper JI, Kelsell DP(2012). The authors reply. New England Journal of Medicine vol. 366, (2)
10.1016/S2215-0366(16)00018-3
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
10.1038/jid.2012.289
Brooke MA, Nitoiu D, Kelsell DP(2012). Cell-cell connectivity: desmosomes and disease. J Pathol vol. 226, (2) 158-171.
10.1002/path.3027
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)
10.1371/journal.pone.0051292
https://qmro.qmul.ac.uk/xmlui/handle/123456789/5376
Etheridge SL, Brooke MA, Kelsell DP, Blaydon DC(2012). Rhomboid proteins: a role in keratinocyte proliferation and cancer. Cell and Tissue Research1-7.
10.1007/s00441-012-1542-1
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.
10.1056/NEJMoa1100721
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.
10.1016/j.ajhg.2011.09.001
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.
10.1016/j.devcel.2011.07.012
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.
10.1042/BJ20110278
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.
10.1038/jid.2011.92
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.
10.1001/archdermatol.2011.9
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
10.1016/j.bbamem.2011.09.004
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.
10.1111/j.1365-2230.2010.03945.x
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.
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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.
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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.
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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.
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Fear MW, Kelsell DP, Spurr NK, Barnes MR(2000). Wnt-16a, a novel Wnt-16 isoform, which shows differential expression in adult human tissues. Biochem Biophys Res Commun vol. 278, (3) 814-820.
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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. Int J Cancer vol. 88, (2) 204-208.
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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. J Invest Dermatol vol. 114, (1) 165-170.
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Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP(1999). Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J Invest Dermatol vol. 113, (6) 1119-1122.
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Kelsell DP, Stevens HP, Purkis PE, Talas U, Rustin MH, Leigh IM(1999). Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins. Exp Dermatol vol. 8, (5) 388-391.
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Hu E, Zhu Y, Fredrickson T, Barnes M, Kelsell D, Beeley L, Brooks D(1998). Erratum: Tissue restricted expression of two human Frzbs in preadipocytes and pancreas (Biochemical and Biophysical Research Communications (1998) 247, 2 (287-293)). Biochemical and Biophysical Research Communications vol. 248, (3) 940-942.
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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 Res 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). J Med Genet vol. 35, (2) 151-152.
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MARUTHAPPU T, CHIKH A, FELL B, DELANEY PJ, BROOKE MA, LEVET C, MONCADA-PAZOS A, ISHIDA-YAMAMOTO A et al.. Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16. Nature Communications
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https://qmro.qmul.ac.uk/xmlui/handle/123456789/19007
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