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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Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.
Patrick J. Pollard,J. J. Briere,N. A. Alam,J Barwell,Ella Barclay,Noel C. Wortham,Tim Hunt,M. Mitchell,Simon E. Olpin,Stuart James Moat,Iain P. Hargreaves,S. J. Heales,Yuen-Li Chung,John R. Griffiths,A. Dalgleish,John A. McGrath,Michael Gleeson,Shirley Hodgson,Richard Poulsom,Pierre Rustin,I. P. M. Tomlinson +20 more
TL;DR: In this study, it is shown that FH-deficient cells and tumours accumulate fumarate and, to a lesser extent, succinate, and in situ analyses showed that these tumours also have over-expression of hypoxia-inducible factor 1alpha, activation of HIF1alphatargets, and high microvessel density.
Journal ArticleDOI
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.
Jo-David Fine,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Leena Bruckner-Tuderman,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,Anders Vahlquist,David T. Woodley,Giovanna Zambruno +18 more
TL;DR: A revised classification system that takes into account the new advances, as well as encompassing other inherited diseases that should also be included within the EB spectrum, based on the presence of blistering and mechanical fragility is presented.
Journal ArticleDOI
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
Jo-David Fine,Leena Bruckner-Tuderman,Robin A.J. Eady,Eugene A. Bauer,Johann W. Bauer,Cristina Has,A.H.M. Heagerty,Helmut Hintner,Alain Hovnanian,Marcel F. Jonkman,Irene M. Leigh,M. Peter Marinkovich,M. Peter Marinkovich,Anna E. Martinez,John A. McGrath,Jemima E. Mellerio,Jemima E. Mellerio,Celia Moss,Dedee F. Murrell,Hiroshi Shimizu,Jouni Uitto,David T. Woodley,Giovanna Zambruno +22 more
TL;DR: In this article, the authors presented a new approach to classification of epidermolysis bullosa (EB) that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and specific mutation(s), and their location(s).
Journal ArticleDOI
Alopecia Universalis Associated with a Mutation in the Human hairless Gene
Wasim Ahmad,Muhammad Faiyaz ul Haque,Valeria Brancolini,Hui C. Tsou,Sayed ul Haque,HaMut Lam,Vincent M. Aita,Jason E. Owen,Michelle deBlaquiere,Jorge Frank,P. B. Cserhalmi-Friedman,Andrew Leask,John A. McGrath,Monica Peacocke,Mahmud Ahmad,Jurg Ott,Angela M. Christiano +16 more
TL;DR: A kindred with a rare, recessively inherited type of alopecia universalis was used to search for a locus by homozygosity mapping, and linkage was established in a 6-centimorgan interval on chromosome 8p12 (the logarithm of the odds favoring linkage score was 6.19 as discussed by the authors ).
Journal ArticleDOI
Revised classification system for inherited epidermolysis bullosa: Report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa
Jo-David Fine,Robin A.J. Eady,Eugene A. Bauer,Robert A. Briggaman,Leena Bruckner-Tuderman,Angela M. Christiano,Adrian Heagerty,Helmut Hintner,Marcel F. Jonkman,John A. McGrath,J McGuire,Alan N. Moshell,Hiroshi Shimizu,Gianluca Tadini,Jouni Uitto +14 more