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.
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Journal ArticleDOI
Inherited disorders of desmosomes.
TL;DR: The spectrum of clinical features that may be found in the inherited disorders of desmosomes are described and the key functions of several of the desmosomal proteins in tissue adhesion and cell biology are highlighted.
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Desmosomal genodermatoses: Desmosomal genodermatoses
TL;DR: Understanding the range of clinical phenotypes in combination with knowledge of the inherent desmosome gene mutation(s) is helpful in managing and counselling patients, as well as providing insight into the biological function of specific components of desmosomes in skin and other tissues.
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Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR
Patrick Campbell,Penny E. Morton,Takuya Takeichi,Takuya Takeichi,Amr Salam,Nerys Roberts,Laura E. Proudfoot,Jemima E. Mellerio,Jemima E. Mellerio,Kingi Aminu,Cheryl Wellington,Sachin N Patil,Masashi Akiyama,Lu Liu,James R. McMillan,Sophia Aristodemou,Akemi Ishida-Yamamoto,Alya Abdul-Wahab,Gabriela Petrof,Kenneth Fong,Sarawin Harnchoowong,Kristina L. Stone,John I. Harper,W.H. Irwin McLean,Michael A. Simpson,Maddy Parsons,John A. McGrath,John A. McGrath +27 more
TL;DR: Using whole-exome sequencing, a homozygous loss-of-function missense mutation in EGFR is identified in a male infant with life-long inflammation affecting the skin, bowel and lungs and illustrates the broader impact of EGFR inhibition on other tissues.
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Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.
Neil V. Whittock,Marek Haftek,Nathalie Angoulvant,F. Wolf,Henri Perrot,Robin A.J. Eady,John A. McGrath +6 more
TL;DR: The results expand the database of plakophilin 1 mutations and demonstrate the importance of this protein in the stabilization of desmosomal adhesion in terminally differentiating keratinocytes.
Journal ArticleDOI
New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis.
Akio Tanaka,Ken Arita,Ken Arita,Joey Lai-Cheong,Francis Palisson,Michihiro Hide,John A. McGrath +6 more
TL;DR: Elucidating the molecular pathology of familial PLCA provides new insight into mechanisms of pruritus in human skin, findings that may have relevance to developing novel treatments for skin itching.