Publications

Publications of specific relevance to Predictive in vitro Models
2021
2018

Maruthappu T, McGinty LA,
Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM, Simpson MA, O'Toole EA and
Kelsell DP (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.2017.10.0312017

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/ncomms141742016

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/s12895-016-0044-32014
2013
Blaydon DC, Lind LK, Plagnol V,
Linton KJ, Smith FJD, Wilson NJ, McLean WHI, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A and
Kelsell DP (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
Scott CA, Plagnol V, Nitoiu D, Bland PJ,
Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA and
Kelsell DP (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
Scott CA, Plagnol V, Nitoiu D, Bland PJ,
Blaydon DC, Chronnell CM, Poon DS, Bourn D, Gárdos L, Császár A, Tihanyi M, Rustin M, Burrows NP, Bennett C, Harper JI, Conrad B, Verma IC, Taibjee SM, Moss C, O'Toole EA and
Kelsell DP (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.2012.3322012
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.2011.12.0082011
Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI and
Kelsell DP (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.2011.09.0012008

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.57010782007
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.033292006
Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC,
Teh M-T, Rüschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM and
Kelsell DP (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/ng18832005
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-05-08422003
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