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Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups.
Rothwell S, Cooper RG, Lundberg IE, Miller FW, Gregersen PK, Bowes J, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Hanna MG, Machado PM, Pachman LM, Reed AM, Rider LG, Cobb J, Platt H, Molberg Ø, Benveniste O, Mathiesen P, Radstake T, Doria A, De Bleecker J, De Paepe B, Maurer B, Ollier WE, Padyukov L, O'Hanlon TP, Lee A, Amos CI, Gieger C, Meitinger T, Winkelmann J, Wedderburn LR, Chinoy H, Lamb JA; Myositis Genetics Consortium. Rothwell S, et al. Ann Rheum Dis. 2016 Aug;75(8):1558-66. doi: 10.1136/annrheumdis-2015-208119. Epub 2015 Sep 11. Ann Rheum Dis. 2016. PMID: 26362759 Free PMC article.
Searching for "monogenic diabetes" in dogs using a candidate gene approach.
Short AD, Holder A, Rothwell S, Massey J, Scholey R, Kennedy LJ, Catchpole B, Ollier WE. Short AD, et al. Among authors: rothwell s. Canine Genet Epidemiol. 2014 Jul 7;1:8. doi: 10.1186/2052-6687-1-8. eCollection 2014. Canine Genet Epidemiol. 2014. PMID: 26401325 Free PMC article.
New developments in genetics of myositis.
Rothwell S, Lamb JA, Chinoy H. Rothwell S, et al. Curr Opin Rheumatol. 2016 Nov;28(6):651-6. doi: 10.1097/BOR.0000000000000328. Curr Opin Rheumatol. 2016. PMID: 27466937 Review.
Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum.
Rothwell S, Cooper RG, Lundberg IE, Gregersen PK, Hanna MG, Machado PM, Herbert MK, Pruijn GJM, Lilleker JB, Roberts M, Bowes J, Seldin MF, Vencovsky J, Danko K, Limaye V, Selva-O'Callaghan A, Platt H, Molberg Ø, Benveniste O, Radstake TRDJ, Doria A, De Bleecker J, De Paepe B, Gieger C, Meitinger T, Winkelmann J, Amos CI, Ollier WE, Padyukov L, Lee AT, Lamb JA, Chinoy H; Myositis Genetics Consortium. Rothwell S, et al. Arthritis Rheumatol. 2017 May;69(5):1090-1099. doi: 10.1002/art.40045. Epub 2017 Apr 4. Arthritis Rheumatol. 2017. PMID: 28086002 Free PMC article.
Genetics in inclusion body myositis.
Rothwell S, Lilleker JB, Lamb JA. Rothwell S, et al. Curr Opin Rheumatol. 2017 Nov;29(6):639-644. doi: 10.1097/BOR.0000000000000431. Curr Opin Rheumatol. 2017. PMID: 28777108 Free PMC article. Review.
Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis.
Kochi Y, Kamatani Y, Kondo Y, Suzuki A, Kawakami E, Hiwa R, Momozawa Y, Fujimoto M, Jinnin M, Tanaka Y, Kanda T, Cooper RG, Chinoy H, Rothwell S, Lamb JA, Vencovský J, Mann H, Ohmura K, Myouzen K, Ishigaki K, Nakashima R, Hosono Y, Tsuboi H, Kawasumi H, Iwasaki Y, Kajiyama H, Horita T, Ogawa-Momohara M, Takamura A, Tsunoda S, Shimizu J, Fujio K, Amano H, Mimori A, Kawakami A, Umehara H, Takeuchi T, Sano H, Muro Y, Atsumi T, Mimura T, Kawaguchi Y, Mimori T, Takahashi A, Kubo M, Kohsaka H, Sumida T, Yamamoto K. Kochi Y, et al. Among authors: rothwell s. Ann Rheum Dis. 2018 Apr;77(4):602-611. doi: 10.1136/annrheumdis-2017-212149. Epub 2018 Jan 13. Ann Rheum Dis. 2018. PMID: 29331962
165 results