The role of MAGT1 in genetic syndromes.
In Magnes Res, Jun 2015
Similarly, the identification of a copy-number variation (CNV) leading to dysfunctional MAGT1 in a family with atypical ATRX syndrome and skin abnormalities, suggested that the MAGT1 defect could be responsible for the cutaneous problems.
TERT promoter mutations are a rare event in gastrointestinal stromal tumors.
Tokyo, Japan. In Springerplus, 2014
Irregular telomerase activation can be maintained by TERT hot spot alterations and alternative lengthening of telomeres (ALT) characterized by inactivation of either the alpha-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated protein (DAXX).