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Publications:  Dr Diana Schalke

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)
10.1038/s41467-018-03470-y
https://qmro.qmul.ac.uk/xmlui/handle/123456789/36456
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.
10.1016/j.jid.2017.10.031
https://qmro.qmul.ac.uk/xmlui/handle/123456789/28664
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
Maruthappu T, McGinty L, Blaydon D, Duit R, Maatta A, O'Toole E, Kelsell DP (2016). Mutations in FAM83G/PAWS1 cause autosomal recessive palmoplantar keratoderma with leukonychia and abundant curly hair. JOURNAL OF INVESTIGATIVE DERMATOLOGY. vol. 136, S191-S191.
10.1016/j.jid.2016.06.198
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
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.
https://qmro.qmul.ac.uk/xmlui/handle/123456789/16012
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)
10.1186/s12895-016-0044-3
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.
10.1242/jcs.154633
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
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.
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
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.
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.
10.1016/j.ajhg.2011.12.008
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
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.
10.1038/sj.jid.5701078
Blaydon DC, Philpott MP, Kelsell DP(2007). R-spondins in cutaneous biology: Nails and cancer. Cell Cycle vol. 6, (8) 895-897.
10.4161/cc.6.8.4136
Blaydon DC, Philpott MP, Kelsell DP(2007). R-spondins in cutaneous biology: nails and cancer. Cell Cycle vol. 6, (8) 895-897.
10.4161/cc.6.8.4136
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.
10.1242/jcs.03329
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.
10.1242/jcs.03329
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.
10.1038/ng1883
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.
10.1158/0008-5472.CAN-05-0842
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.
10.1034/j.1399-0004.2003.00058.x
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