J
Joanne E. Martin
Researcher at Queen Mary University of London
Publications - 130
Citations - 8938
Joanne E. Martin is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Myopathy. The author has an hindex of 39, co-authored 130 publications receiving 8428 citations. Previous affiliations of Joanne E. Martin include Royal London Hospital & University of Oxford.
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Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.
Ivan Alić,Ivan Alić,Ivan Alić,Pollyanna Goh,Aoife Murray,Erik Portelius,Eleni Gkanatsiou,Gillian Gough,Kin Y. Mok,David Koschut,Reinhard Brunmeir,Yee Jie Yeap,Niamh L. O'Brien,Jürgen Groet,Xiaowei Shao,Steven Havlicek,N. Ray Dunn,N. Ray Dunn,Hlin Kvartsberg,Gunnar Brinkmalm,Rosalyn Hithersay,Rosalyn Hithersay,Carla M. Startin,Sarah Hamburg,Margaret Phillips,Konstantin Pervushin,Mark Turmaine,David Wallon,Anne Rovelet-Lecrux,Hilkka Soininen,Emanuela V. Volpi,Joanne E. Martin,Jia Nee Foo,Jia Nee Foo,David Laurence Becker,Agueda Rostagno,Jorge Ghiso,Željka Krsnik,Goran Šimić,Ivica Kostović,Dinko Mitrečić,Paul T. Francis,Kaj Blennow,Andre Strydom,Andre Strydom,John Hardy,Henrik Zetterberg,Henrik Zetterberg,Dean Nižetić,Dean Nižetić +49 more
TL;DR: The data prove the physiological role of BACE2 as a dose-sensitive AD-suppressor gene, potentially explaining the dementia delay in ~30% of people with DS, and show that DS cerebral organoids could be explored as pre-morbid AD-risk population detector and a system for hypothesis-free drug screens as well as identification of natural suppressor genes for neurodegenerative diseases.
Journal ArticleDOI
Prediction of progression in pTa and pT1 bladder carcinomas with p53, p16 and pRb
Andrew W. Hitchings,Maneesh Kumar,Suzanne Jordan,Vinod H. Nargund,Joanne E. Martin,Daniel M. Berney +5 more
TL;DR: Overall, it is concluded that the immunohistochemical evaluation of p53 and p16 may have independent prognostic value for disease progression, and may help guide management decisions in these tumours.
Journal ArticleDOI
Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
Adrian M. Isaacs,Kay E. Davies,A. J. Hunter,P M Nolan,L Vizor,J Peters,D G Gale,David P. Kelsell,I D Latham,J M Chase,Elizabeth M. C. Fisher,Mark Bouzyk,A Potter,M Masih,Frank S. Walsh,M A Sims,K E Doncaster,C A Parsons,Joanne E. Martin,Steve D.M. Brown,Sohaila Rastan,Nigel K. Spurr,Ian C. Gray +22 more
TL;DR: This is the first report of the generation of a clinically relevant neurological mutant and its rapid genetic characterization from a large-scale mutagenesis screen for dominant phenotypes in the mouse, and validates the use of large- scale screens to generate desired clinical phenotype in mice.
Journal ArticleDOI
beta hCG as a prognostic marker in adenocarcinoma of the prostate.
TL;DR: The demonstration of beta hCG in prostatic adenocarcinoma identifies a group of patients with poor prognosis, irrespective of histological grade, which will be extremely valuable in the subsequent clinical management of such patients.
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Transchromosomal Mouse Embryonic Stem Cell Lines and Chimeric Mice That Contain Freely Segregating Segments of Human Chromosome 21
TL;DR: The creation of mice that carry different human chromosome 21 (Hsa21) fragments as a freely segregating extra chromosome is reported here to investigate the molecular genetics of DS and is applicable to investigations requiring the transfer of large chromosomal regions into ES or other cells and, in particular, the modelling of DS.