Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients
Ho M, Nguyen H-N, Van Hoang M, Bui TTT, Vu B-Q, Dinh THT, Vo HTM, Blaydon DC, Eldirany SA, Bunick CG and Bui C-B
Human Genomics, Springer Nature vol. 18 (1) 
16-04-2024

A Role for Aquaporin-5 Variants in Regulation of the Actin Cytoskeleton in Non-Epidermolytic Palmoplantar Keratoderma
Del Caño LR, South AP, O'Toole EA, Kelsell DP and Blaydon DC
Journal of Investigative Dermatology, Elsevier vol. 144 (9), 2092-2096.  
23-03-2024

Cleavage of the pseudoprotease iRhom2 by the signal peptidase complex reveals an ER-to-nucleus signaling pathway
Dulloo I, Tellier M, Levet C, Chikh A, Zhang B, Blaydon DC, Webb CM, Kelsell DP and Freeman M
Molecular Cell, Elsevier vol. 84 (2), 277-292.e9.  
01-01-2024

Investigating iRHOM2-Associated Transcriptional Changes in Tylosis With Esophageal Cancer
Murtough S, Babu D, Webb CM, Picard HLD, McGinty LA, Chao-Chu J, Pink R, Silver AR, Smart HL, Field JK, Woodland P, Risk JM, Blaydon DC, Pennington DJ and Kelsell DP
Gastro Hep Advances, Elsevier vol. 3 (3), 385-395.  
26-12-2023

Identification of novel immune cell signature in gastroesophageal reflux disease: altered mucosal mast cells and dendritic cell profile
Ustaoglu A, Daudali FA, D’afflitto M, Murtough S, Lee C, Moreno E, Blaydon DC, Kelsell DP, Sifrim D, Woodland P and Peiris M
Frontiers in Immunology, Frontiers vol. 14 
30-11-2023

iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility
Chao-Chu J, Murtough S, Zaman N, Pennington DJ, Blaydon DC and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 141 (4), 722-726.  
17-10-2020

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response
Arcidiacono P, Webb CM, Brooke MA, Zhou H, Delaney PJ, Ng K-E, Blaydon DC, Tinker A, Kelsell DP and Chikh A
Nature Communications, Springer Nature vol. 9 (1) 
09-03-2018

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
Maruthappu T, McGinty LA, Blaydon DC, Fell B, Määttä A, Duit R, Hawkins T, Braun KM, Simpson MA, O’Toole EA and Kelsell DP
Journal of Investigative Dermatology, Elsevier vol. 138 (4), 984-987.  
11-11-2017

Rhomboid family member 2 Regulates cytoskeletal stress associated Keratin 16
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
Nature Communications, Nature Publishing Group vol. 8, 14174-14174.  
27-01-2017

Loss-of-function mutations in SERPINB8 linked to exfoliative ichthyosis with impaired mechanical stability of intercellular adhesions
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
American Journal of Human Genetics, Elsevier (Cell Press): 6 Month Embargo 
28-07-2016

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
Krøigård AB, Hetland LE, Clemmensen O, Blaydon DC, Hertz JM and Bygum A
Bmc Dermatology vol. 16 (1) 
03-06-2016

Defective channels lead to an impaired skin barrier.
Blaydon DC and Kelsell DP
J Cell Sci vol. 127 (Pt 20), 4343-4350.  
15-10-2014

Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
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
Am J Hum Genet vol. 93 (2), 330-335.  
08-08-2013

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases.
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
J Invest Dermatol vol. 133 (2), 573-576.  
01-02-2013

Rhomboid proteins: A role in keratinocyte proliferation and cancer
Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC
Cell and Tissue Research vol. 351 (2), 301-307.  
01-02-2013

Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases
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
Journal of Investigative Dermatology vol. 133 (2), 573-576.  
01-01-2013

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
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
Am J Hum Genet vol. 90 (2), 340-346.  
10-02-2012

Rhomboid proteins: a role in keratinocyte proliferation and cancer
Etheridge SL, Brooke MA, Kelsell DP and Blaydon DC
Cell and Tissue Research, 1-7.  
01-01-2012

Inflammatory skin and bowel disease linked to ADAM17 deletion.
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
N Engl J Med vol. 365 (16), 1502-1508.  
20-10-2011

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.
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
Am J Hum Genet vol. 89 (4), 564-571.  
07-10-2011

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
Ishii Y, Wajid M, Bazzi H, Fantauzzo KA, Barber AG, Blaydon DC, Nam J-S, Yoon JK, Kelsell DP and Christiano AM
J Invest Dermatol vol. 128 (4), 867-870.  
01-04-2008

R-spondins in cutaneous biology: Nails and cancer
Blaydon DC, Philpott MP and Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  
15-04-2007

R-spondins in cutaneous biology: nails and cancer.
Blaydon DC, Philpott MP and Kelsell DP
Cell Cycle vol. 6 (8), 895-897.  
15-04-2007

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation (vol 120, pg 330, 2007)
Teh MT, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP
J Cell Sci vol. 120 (5), 917-917.  
01-03-2007

Role for WNT16B in human epidermal keratinocyte proliferation and differentiation.
Teh M-T, Blaydon D, Ghali LR, Briggs V, Edmunds S, Pantazi E, Barnes MR, Leigh IM, Kelsell DP and Philpott MP
J Cell Sci vol. 120 (Pt 2), 330-339.  
15-01-2007

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
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
Nat Genet vol. 38 (11), 1245-1247.  
01-11-2006

Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event.
Teh M-T, Blaydon D, Chaplin T, Foot NJ, Skoulakis S, Raghavan M, Harwood CA, Proby CM, Philpott MP, Young BD and Kelsell DP
Cancer Res vol. 65 (19), 8597-8603.  
01-10-2005

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK.
Blaydon DC, Mueller RF, Hutchin TP, Leroy BP, Bhattacharya SS, Bird AC, Malcolm S and Bitner-Glindzicz M
Clin Genet vol. 63 (4), 303-307.  
01-04-2003