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Contribution of Rare Genetic Variation to Disease Susceptibility in a Large Scandinavian Myositis Cohort
Arthritis & Rheumatology ( IF 11.4 ) Pub Date : 2021-07-19 , DOI: 10.1002/art.41929
Matteo Bianchi 1 , Sergey V Kozyrev 1 , Antonella Notarnicola 2 , Lina Hultin Rosenberg 1 , Åsa Karlsson 1 , Pascal Pucholt 3 , Simon Rothwell 4 , Andrei Alexsson 3 , Johanna K Sandling 3 , Helena Andersson 5 , Robert G Cooper 6 , Leonid Padyukov 2 , Anna Tjärnlund 2 , Maryam Dastmalchi 2 , , , Jennifer R S Meadows 1 , Louise Pyndt Diederichsen 7 , Øyvind Molberg 8 , Hector Chinoy 9 , Janine A Lamb 4 , Lars Rönnblom 3 , Kerstin Lindblad-Toh 10 , Ingrid E Lundberg 2
Affiliation  

Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of complex autoimmune conditions characterized by inflammation in skeletal muscle and extramuscular compartments, and interferon (IFN) system activation. We undertook this study to examine the contribution of genetic variation to disease susceptibility and to identify novel avenues for research in IIMs.

中文翻译:

罕见遗传变异对大型斯堪的纳维亚肌炎队列疾病易感性的贡献

特发性炎症性肌病 (IIM) 是一组复杂的异质性自身免疫性疾病,其特征是骨骼肌和肌外隔室发炎,以及干扰素 (IFN) 系统激活。我们进行这项研究是为了检查遗传变异对疾病易感性的贡献,并确定 IIM 研究的新途径。
更新日期:2021-07-19
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