Identification of the tyrosine-protein phosphatase non-receptor type 2 as a rheumatoid arthritis susceptibility locus in europeans.

Autor: Joanna E Cobb, Darren Plant, Edward Flynn, Meriem Tadjeddine, Philippe Dieudé, François Cornélis, Lisbeth Ärlestig, Solbritt Rantapää Dahlqvist, George Goulielmos, Dimitrios T Boumpas, Prodromos Sidiropoulos, Sophine B Krintel, Lykke M Ørnbjerg, Merete L Hetland, Lars Klareskog, Thomas Haeupl, Andrew Filer, Christopher D Buckley, Karim Raza, Torsten Witte, Reinhold E Schmidt, Oliver FitzGerald, Douglas Veale, Stephen Eyre, Jane Worthington

Publikováno v: PLoS ONE, Vol 8, Iss 6, p e66456 (2013)

ObjectivesGenome-wide association studies have facilitated the identification of over 30 susceptibility loci for rheumatoid arthritis (RA). However, evidence for a number of potential susceptibility genes have not so far reached genome-wide significa

Externí odkaz: https://doaj.org/article/628ccdef86944f8a88af42fb2ef3e519

Genomic risk scores for juvenile idiopathic arthritis and its subtypes

Autor: Jane E Munro, John Bowes, Marta Brozynska, Gad Abraham, Rodrigo Cánovas, Wendy Thomson, Samantha L. Smith, Joanna E. Cobb, Hakon Hakonarson, Michael Inouye, Justine A. Ellis, Yun Li

Publikováno v: Cánovas, R, Cobb, J, Brozynska, M, Bowes, J, Li, Y R, Smith, S L, Hakonarson, H, Thomson, W, Ellis, J A, Abraham, G, Munro, J E & Inouye, M 2020, ' Genomic risk scores for juvenile idiopathic arthritis and its subtypes ', Annals of the rheumatic diseases . https://doi.org/10.1136/annrheumdis-2020-217421
Annals of the Rheumatic Diseases

ObjectivesJuvenile idiopathic arthritis (JIA) is an autoimmune disease and a common cause of chronic disability in children. Diagnosis of JIA is based purely on clinical symptoms, which can be variable, leading to diagnosis and treatment delays. Desp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::779fc9ebaf89448f1b9d7245c65f6fc0
https://www.research.manchester.ac.uk/portal/en/publications/genomic-risk-scores-for-juvenile-idiopathic-arthritis-and-its-subtypes(839b8c4e-5fff-4844-9c73-db82c1ea303d).html

Association of Increased Sun Exposure Over the Life-course with a Reduced Risk of Juvenile Idiopathic Arthritis

Autor: Angela Pezic, Jonathan D Akikusa, Roger C. Allen, Anne-Louise Ponsonby, Jane E Munro, Justine A. Ellis, Terence Dwyer, Joanna E. Cobb, Rachel Chiaroni-Clarke

Publikováno v: Photochemistry and photobiology. 95(3)

Cutaneous sun exposure is an important determinant of circulating vitamin D. Both sun exposure and vitamin D have been inversely associated with risk of autoimmune disease. In juvenile idiopathic arthritis (JIA), low circulating vitamin D appears com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0c9d92dd3fad7c13426d678349f1102
https://pubmed.ncbi.nlm.nih.gov/30378692

SEARCHING FOR FUNCTIONAL GENETIC VARIANTS IN NON-CODING DNA

Autor: Stephen B. Harrap, Steven Petrou, Cara J Busst, Joanna E. Cobb, Justine A. Ellis

Publikováno v: Clinical and Experimental Pharmacology and Physiology. 35:372-375

1. The search for DNA sequence variants for complex human polygenic conditions has been a strong focus of recent genetic research. While gene loci have been identified, few variants in the coding sequences of these genes have been found, suggesting t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1eab99f7ba3a7c6179fee72a50a2b91
https://doi.org/10.1111/j.1440-1681.2008.04880.x

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Autor: Charles E. Schwartz, Quang M. Bui, Cindy Skinner, Elva Z. Shi, Danuta Z. Loesch, Jacqueline K. Hewitt, David E. Godler, Yoshimi Inaba, Alison Arvaj, Jonathon Cohen, Randi J Hagerman, Sylvia A Metcalfe, Howard R. Slater, Joanna E. Cobb, Amy S Herlihy, Tiffany Wotton, David Francis, John L. Hopper, Kate Pope, David J. Amor

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 15(4)

We show that a novel fragile X–related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15638a09765b55bd25c4d6e3c8614d0
https://pubmed.ncbi.nlm.nih.gov/23060046