دانلود The Epigenetic Regulator SMCHD1 in Development and Disease

ترجمه فارسی The Epigenetic Regulator SMCHD1 in Development and Disease
قیمت : 315,000 ریال
شناسه محصول : 2009262
نویسنده/ناشر/نام مجله : trends in genetics
سال انتشار: 2017
تعداد صفحات انگليسي : 11
نوع فایل های ضمیمه : pdf+word
حجم فایل : 1 Mb
کلمه عبور همه فایلها : www.daneshgahi.com
عنوان انگليسي : The Epigenetic Regulator SMCHD1 in Development and Disease

چکیده

Abstract

It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1.

 

Keywords: SMCHD1 facioscapulohumoral muscular dystrophy Bosma arhinia and micropthalmia syndrome
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