Jun 1, 2017 · Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniotic fluid incidentally detected a 1.484-Mb microduplication of Xq13.3-q21.1 encompassing ATRX. Subsequent aCGH analysis on maternal blood revealed the same Xq microduplication, indicating a familial inheritance.

The transcriptional regulator ATRX, a genetic factor, is associated with a range of disabilities, including intellectual, hematopoietic, skeletal, facial, and urogenital disabilities. ATRX mutations substantially contribute to the pathogenesis of ...

Mar 7, 2023 · ATRX (alpha-thalassemia mental retardation X-linked) is one of the most frequently mutated tumor suppressor genes in human cancers, especially in glioma, and recent findings indicate roles for ATRX in key molecular pathways, such as the regulation of chromatin state, gene expression, and DNA damage repair, placing ATRX as a central player in ...

The ATRX gene, located on the X chromosome, is responsible for alpha-thalassemia with mental retardation syndrome. While mutations in the ATRX gene alone do not induce tumorigenesis, they are associated with neurodegeneration and mental retardation.

ATRX is a chromatin remodeler and transcriptional regulator that belongs to the SWItch/Su-crose Non-Fermentable (SWI/SNF) protein family [1] discovered in patients bearing the ATRX syndrome [2]. Patients with the ATRX syndrome display severe mental retardation, genital abnormalities, dysmorphic facial appearance, andα-thalassemia [3]. This has ...

Apr 1, 2014 · We show that ATRX binds G-quadruplex structures in vitro, suggesting a mechanism by which ATRX may play a role in various nuclear processes and how this is perturbed when ATRX is mutated.

Feb 12, 2025 · ATRX is developing space planes for low-cost, on-demand space launch applications such as launching satellites to Very Low Earth Orbit (VLEO), Low Earth Orbit (LEO), and other orbits.

Feb 15, 2009 · This 7 Mb duplication encompasses 23 known genes, including the X-linked mental retardation (XLMR) genes ATRX and SLC16A2. The phenotype of this patient is similar to that described in more than 10 previously reported patients with overlapping Xq duplications.

ATRX is a molecular motor (Chromatin Remodeler, a Protein Coding gene) which helps maintain the chromatin by replacing histones when these are lost.

Apr 1, 2009 · Among these, the most outstanding is ATRX, the causative gene of X-linked alpha-thalassemia/mental retardation. ATRX belongs to the growing list of genes implied in chromatin remodeling causing ID.