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
More filters
Journal ArticleDOI
The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa.
John A. McGrath,Robin A.J. Eady +1 more
TL;DR: Skin biopsies from four patients with similar clinical phenotypes of non-lethal junctional epidermolysis bullosa were investigated by electron microscopy and immunohistochemistry and reveal abnormalities in candidate genes and proteins underlying this group of genetic blistering disorders.
Journal ArticleDOI
Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin‐1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report
Alan R. Thornhill,Susan J. Pickering,Neil V. Whittock,Jenny Caller,Vicky Andritsos,H Bickerstaff,Alan H. Handyside,Robin A.J. Eady,Peter Braude,John A. McGrath +9 more
TL;DR: A single cell polymerase chain reaction (PCR) assay suitable for preimplantation genetic diagnosis (PGD) and here it is reported on the clinical application of this assay.
Journal ArticleDOI
Blistering skin diseases: a bridge between dermatopathology and molecular biology.
Nikoletta Nagy,John A. McGrath +1 more
TL;DR: Blistering skin diseases: a bridge between dermatopathology and molecular biology.
Journal ArticleDOI
Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma.
Velina S. Atanasova,Celine Pourreyron,Mehdi Farshchian,Michael Lawler,Christian A. Brown,Stephen Watt,Sheila C. Wright,Michael Warkala,Christina Guttmann-Gruber,Josefina Piñón Hofbauer,Ignacia Fuentes,Marco Prisco,Elham Rashidghamat,Cristina Has,Julio C. Salas-Alanis,Francis Palisson,Alain Hovnanian,John A. McGrath,Jemima E. Mellerio,Johann W. Bauer,Andrew P. South +20 more
TL;DR: Data from a screen of 6 compounds originally designated as PLK1 inhibitors support a "first in RDEB" phase II clinical trial of rigosertib to assess tumor targeting in patients with late stage, metastatic, and/or unresectable SCC.
Journal ArticleDOI
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ)
Takuya Takeichi,Takuya Takeichi,Chao Kai Hsu,Hsing San Yang,H.-Y. Chen,Tak Wah Wong,W.-L. Tsai,S‐C. Chao,Julia Yu-Yun Lee,Masashi Akiyama,Michael A. Simpson,John A. McGrath +11 more
TL;DR: This case demonstrates that defects or deficiencies of cobalamin should be remembered in the differential diagnosis of diffuse hyperpigmentary skin disorders, and using whole‐exome sequencing identified a homozygous mutation in ABCD4 (c.423C>G; p.Asn141Lys), which encodes an ATP‐binding cassette transporter with a role in the intracellular processing ofcobalamin.