Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene. [3] . Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD). …

2024年12月24日 · This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has …

在FSHD1中，发生低甲基化是因为D4Z4区域异常缩短（收缩），包含1到10次重复，而不是通常的11到100次重复。 在FSHD2中，低甲基化通常是由称为SMCHD1的基因中的突变引起的，其 …

2017年11月1日 · Here, we applied a nanopore-based ultra-long read sequencer to sequence a BAC clone containing 13 D4Z4 repeats and flanking regions. We successfully obtained the …

FSHD是一种常染色体显性疾病，最初被发现和4号染色体中的D4Z4重复的多态性相关。 健康人D4Z4重复在11-150范围内。 FSHD有两种亚型，FSHD1占95%，仅由D4Z4重复少于10导 …

2023年7月1日 · Whole genome sequencing using Oxford Nanopore PromethION (ONT) offers a simple and effective molecular diagnosis for FSHD by identifying a contraction of the D4Z4 …

One of the most prominent features of the subtelomere of chromosome 4q is a large polymorphic repeat structure consisting of 1–100 Kpn I units, designated “D4Z4” (van Deutekom et al. …

The DUX4 gene is located near the end of chromosome 4 in a region known as D4Z4. Learn about this gene and related health conditions.

2020年12月10日 · Alleles of this size, named borderline D4Z4 reduced alleles (bDRA), are considered the upper size of the diagnostic range and pose the major diagnostic challenges.

2009年2月27日 · We have identified a new mechanism for the regulation of the D4Z4 array depending on both the number of repeats and the presence of CTCF and A-type Lamins. Our …