Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000197
Abstract: Introduction and importance: Variants in the aristaless-related homeobox (ARX) gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES)… read more here.
Keywords: arx variant; whole exome; variant; arx gene ... See more keywords
Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability
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DOI: 10.1186/s13104-021-05526-7
Abstract: Objective Intellectual Disability (ID) represents a neuropsychiatric disorder, which its etiopathogenesis remains insufficiently understood. Mutations in the Aristaless Related Homeobox gene ( ARX ) have been identified to cause syndromic and nonsyndromic (NS-ID). The most… read more here.
Keywords: arx gene; moroccan patients; duplication; intellectual disability ... See more keywords
EpiCRISPR targeted methylation of Arx gene initiates transient switch of mouse pancreatic alpha to insulin-producing cells
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2023.1134478
Abstract: Introduction Beta cell dysfunction by loss of beta cell identity, dedifferentiation, and the presence of polyhormonal cells are main characteristics of diabetes. The straightforward strategy for curing diabetes implies reestablishment of pancreatic beta cell function… read more here.
Keywords: cell; pancreatic alpha; arx gene; gene ... See more keywords