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Dr Diana Blaydon

Diana Blaydon
Centre for Cell Biology and Cutaneous Research
Blizard Institute

Research

Skin, Epidermal barrier, Monogenic skin conditions, Cell-cell adhesion, 3D models

Interests

Using patient-derived, mutant keratinocytes in monolayer and 3D organotypic skin models to study molecular mechanisms underlying epidermal barrier function.

Publications

Publications of specific relevance to Predictive in vitro Models

2021

Chao-Chu J, Murtough S, Zaman N, Pennington DJ, Blaydon DC and Kelsell DP (2021). iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility. Journal of Investigative Dermatology  vol. 141, (4) 722-726. 10.1016/j.jid.2020.09.010

2018

Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng KE, Blaydon DC, Tinker A, Kelsell DP and Chikh A (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
(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

2017

Maruthappu T, Chikh A, Fell B, Delaney PJ, Brooke MA, Levet C, Moncada-Pazos A, Ishida-Yamamoto A, Blaydon D, Waseem A, Leigh IM, Freeman M and KELSELL DP (2017). Rhomboid family member 2 Regulates cytoskeletal stress associated Keratin 16. Nature Publishing Group  Nature Communications  vol. 8, 14174-14174. 10.1038/ncomms14174

2016

Pigors M, Sarig O, Heinz L, Plagnol V, Fischer F, Mohamad J, Malchin N, Rajpopat S, Kharfi M, Lestringant GG, Sprecher E, Kelsell DP and Blaydon DC (2016). Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions. Elsevier (Cell Press): 6 Month Embargo  American Journal of Human Genetics  10.1016/j.ajhg.2016.06.004
Krøigård AB, Hetland LE, Clemmensen O, Blaydon DC, Hertz JM and 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

2014

Blaydon DC and Kelsell DP (2014). Defective channels lead to an impaired skin barrier. J Cell Sci  vol. 127, (Pt 20) 4343-4350. 10.1242/jcs.154633

2013

(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
(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 and 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
(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

2012

Blaydon DC, Etheridge SL, Risk JM, Hennies H-C, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP and Kelsell DP (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 and Blaydon DC (2012). Rhomboid proteins: a role in keratinocyte proliferation and cancer. Cell and Tissue Research  1-7. 10.1007/s00441-012-1542-1

2011

(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, Fischer J, Oji V, Zvulunov A, Traupe H, Hennies HC and Kelsell DP (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

2008

Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam J-S, Yoon JK, Kelsell DP and Christiano AM (2008). Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia. J Invest Dermatol  vol. 128, (4) 867-870. 10.1038/sj.jid.5701078

2007

Blaydon DC, Philpott MP and 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 and Kelsell DP (2007). R-spondins in cutaneous biology: nails and cancer. Cell Cycle  vol. 6, (8) 895-897. 10.4161/cc.6.8.4136
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP (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, Kelsell DP and Philpott MP (2007). Role for WNT16B in human epidermal keratinocyte proliferation and differentiation. J Cell Sci  vol. 120, (Pt 2) 330-339. 10.1242/jcs.03329

2006

(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

2005

Teh M-T, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM, Philpott MP, Young BD and Kelsell DP (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

2003

Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S and 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

Grants

Grants of specific relevance to Predictive in vitro Models
Dissecting palmoplantar skin/keratinocytes as a model of stress – a role for AQP5
Schalke DC and Ramos Del Cano L
£85,000 British Skin Foundation (23-09-2019 - 22-09-2022)