J
John A. McGrath
Researcher at King's College London
Publications - 674
Citations - 26684
John A. McGrath is an academic researcher from King's College London. The author has contributed to research in topics: Epidermolysis bullosa & Mutation. The author has an hindex of 75, co-authored 631 publications receiving 24078 citations. Previous affiliations of John A. McGrath include Ninewells Hospital & Southampton General Hospital.
Papers
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Journal ArticleDOI
Hay–Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
John A. McGrath,Pascal H.G. Duijf,Volker Doetsch,Alan D. Irvine,Robert M.W. de Waal,Kaate R.J. Vanmolkot,V Wessagowit,Alexander E. Kelly,David J. Atherton,W Andrew D Griffiths,Seth J. Orlow,Arie van Haeringen,Margreet G. E. M. Ausems,Annie Yang,Frank McKeon,Michael A. Bamshad,Han G. Brunner,Ben C.J. Hamel,Hans van Bokhoven +18 more
TL;DR: A clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes, where the p63 gene mutations have highly pleiotropic effects.
Journal ArticleDOI
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
John A. McGrath,James R. McMillan,Carrie S. Shemanko,S. K. Runswick,Irene M. Leigh,E. B. Lane,David R. Garrod,Robin A.J. Eady +7 more
TL;DR: The molecular findings and clinical observations in this patient attest to the dual importance of plakophilin 1 in both cutaneous cell–cell adhesion and epidermal morphogenesis.
Journal ArticleDOI
Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
John A. McGrath,B. Gatalica,Angela M. Christiano,Kehua Li,Katsushi Owaribe,McMillan,Robin A.J. Eady,Jouni Uitto,Jouni Uitto +8 more
TL;DR: The first mutations in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2) are described, a transmembranous hemidesmosomal collagen, also known as type XVII collagen (COL17A1)8, a rare variant of JEB, and isacompound heterozygote for premature termination codons on both alleles are described.
Book ChapterDOI
Anatomy and Organization of Human Skin
TL;DR: There is wide variation between different body sites, and the scalp with its large hair follicles may be contrasted with the forehead, which has only small vellus-producing follicles, albeit associated with large sebaceous glands.
Journal ArticleDOI
Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Cristina Has,Johann W. Bauer,Christine Bodemer,Maria C. Bolling,Leena Bruckner-Tuderman,Anja Diem,Jo-David Fine,Adrian Heagerty,Alain Hovnanian,M.P. Marinkovich,Anna E. Martinez,John A. McGrath,Celia Moss,Dedee F. Murrell,Francis Palisson,Agnes Schwieger-Briel,Eli Sprecher,Katsuto Tamai,Jouni Uitto,David T. Woodley,Giovanna Zambruno,Jemima E. Mellerio +21 more
TL;DR: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).