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Research

Publications: Dr Diana Schalke

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 .
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 )
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 .
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 .
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 ,
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
Ahmed A, McGinty L, Blaydon D, Kelsell DP, O'Toole EA, De Silva B ( 2016 ) . Mild arthrogryposis, renal dysfunction and cholestasis syndrome caused by a novel splice-site mutation in VPS33B . BRITISH JOURNAL OF DERMATOLOGY . vol. 175 , 81 - 82 .
Krøigård AB, Hetland LE, Clemmensen O, Blaydon DC, Hertz JM, Bygum A ( 2016 ) . The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report . BMC Dermatology vol. 16 , ( 1 )
Pigors M, Heinz L, Plagnol V, Fischer J, Kharfi M, Lestringant GG, Kelsell D, Blaydon DC ( 2015 ) . Mutations in SERPINB8 underlie a mild peeling skin phenotype . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 135 , S55 - S55 .
Blaydon DC, Kelsell DP ( 2014 ) . Defective channels lead to an impaired skin barrier . J Cell Sci vol. 127 , ( Pt 20 ) 4343 - 4350 .
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 .
Blaydon DC, Lind L, Plagnol V, Linton KJ, South AP, Leigh IM, O'Toole EA, Lundstrom A et al. ( 2013 ) . Aquaporin 5 (AQP5), a water channel protein, is mutated in autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 133 , S139 - S139 .
Brooke MA, Etheridge SL, Blaydon DC, Getsios S, Kelsell DP ( 2013 ) . Dysregulated iRHOM2/ADAM17 in Tylosis with oesophageal cancer affects Ephrin- and EGF-family-mediated keratinocyte adhesion and migration . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 133 , S149 - S149 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
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 .
Blaydon DC, Leroy B, Bhattacharya S, Bitner-Glindzicz M ( 2003 ) . Missense changes in USH1C in a type 1 Usher patient? . AMERICAN JOURNAL OF HUMAN GENETICS . vol. 73 , 258 - 258 .
Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S, Bitner-Glindzicz M ( 2003 ) . The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK . Clin Genet vol. 63 , ( 4 ) 303 - 307 .