Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MCD.0000000000000349 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO.
Brain Dev
July 2025
Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan; Department of Hamamatsu Child Health and Development, Hamamatsu University School of Medicine, Hamamatsu, Japan. Electronic address:
Background: Trio rho guanine nucleotide exchange factor (TRIO), encodes a guanine nucleotide exchange factor (GEF) that is critical for neurodevelopment and regulates Rho guanosine triphosphatase. It has been shown that missense variants in the GEF1 or GEF2 domains or loss-of-function variants in TRIO are associated with microcephaly while gain-of-function variants in the spectrin repeat domain result in macrocephaly. Rare cases of macrocephaly linked to missense variants in the GEF1 domain have been reported; however, clinical details remain limited.
View Article and Find Full Text PDFDetection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach.
Mol Autism
April 2024
Department of Biological Sciences, Neurobiology Section, Dornsife College of Letters, Arts and Sciences, University of Southern California, Los Angeles, CA, 90089, USA.
Background: Glutamatergic synapse dysfunction is believed to underlie the development of Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) in many individuals. However, identification of genetic markers that contribute to synaptic dysfunction in these individuals is notoriously difficult. Based on genomic analysis, structural modeling, and functional data, we recently established the involvement of the TRIO-RAC1 pathway in ASD and ID.
View Article and Find Full Text PDF