کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6020835 | 1580424 | 2012 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis](/preview/png/6020835.png)
چکیده انگلیسی
The NOTCH4 gene, located within the MHC region, is involved in cellular differentiation and has varying effects dependent on tissue type. Coding region polymorphisms haplotypic of the sIBM-associated 8.1 ancestral haplotype were identified in NOTCH4 and genotyped in two different Caucasian sIBM cohorts. In both cohorts the frequency of the minor allele of rs422951 and the 12-repeat variation for rs72555375 was increased and was higher than the frequency of the sIBM-associated allele HLA-DRB1*0301. These NOTCH4 polymorphisms can be considered to be markers for sIBM susceptibility, but require further investigation to determine whether they are directly involved in the disease pathogenesis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Neuroimmunology - Volume 250, Issues 1â2, 15 September 2012, Pages 66-70
Journal: Journal of Neuroimmunology - Volume 250, Issues 1â2, 15 September 2012, Pages 66-70
نویسندگان
Adrian P. Scott, Nigel G. Laing, Frank Mastaglia, Marinos Dalakas, Merrilee Needham, Richard J.N. Allcock,