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DUX4 activates germline genes, retroelements and immune-mediators: Implications for facioscapulohumeral dystrophy

ChEBI2012-01-03 更新2026-07-21 收录

面肩肱型肌营养不良症

DUX4基因功能

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-33838 数据链接链接失效反馈

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DUX4 activates germline genes, retroelements and immune-mediators: Implications for facioscapulohumeral dystrophy

应用场景：

创建时间：

2012-01-03

面肩肱型肌营养不良症

患者报告结果测量

Facial weakness and its functional consequences are an often underappreciated clinical feature of facioscapulohumeral muscular dystrophy (FSHD) by healthcare professionals and researchers. This is at

DataCite Commons2023-04-10 更新80

Speech and swallowing characteristics in patients with facioscapulohumeral muscular dystrophy

面肩肱型肌营养不良症

吞咽障碍干预

ABSTRACT Background: Although facial muscle weakness is common in patients with Facioscapulohumeral Muscular Dystrophy (FSHD), the literature is scarce on the speech and swallowing aspects. Objective:

DataCite Commons2022-05-27 更新40

DUX4 mRNA expression in FSHD and control biopsies.

面肩肱型肌营养不良症

基因表达分析

AChrosome 4 haplotype. For FSHD the number in paratheses indicates the number of D4Z4 units on the contracted allele; n.d., indicates that the haplotype of the second allele was not determined.X, prod

Figshare2015-12-02 更新20

A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy

面肩肱型肌营养不良症

DUX4基因治疗

The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DU

Figshare2018-02-08 更新40

FSHD-registratie

面肩肱型肌营养不良症

患者生活质量

This collection belongs to two published papers: 1) "The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes" by J. Kools et al., publi

DataCite Commons2026-01-26 更新30

DUX4 activates germline genes, retroelements and immune-mediators: Implications for facioscapulohumeral dystrophy

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