ArticleJournal of medical genetics2016
Mutations specific to the Rac-GEF domain of
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
What it found
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Who cites it
54 citing papers in PubMed, 85 citations in OpenAlex.
- Identification and growth features of developmental delay with macrocephaly caused by a novel TRIO variant affecting the second SH3 domain.BMC medical genomics · 2026Article
- Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novoMolecular syndromology · 2026Article
- Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach.Noro psikiyatri arsivi · 2026Article
- De NovoHuman mutation · 2026Article
- Trio and CRMP2 regulate axon branching and Semaphorin3A signaling.Communications biology · 2025Article
- Article
- The Rho GEF Trio functions in contact inhibition of locomotion of neural crest cells by interacting with Ptk7.Development (Cambridge, England) · 2025Article
- Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneurons.Molecular psychiatry · 2025Article
- Genetic Diversity in Schizophrenia: Developmental Implications of Ultra-Rare, Protein-Truncating Mutations.Genes · 2024Review
- The RNA-binding protein Nab2 regulates levels of the RhoGEF Trio to govern axon and dendrite morphology.Molecular biology of the cell · 2024Article
- Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes.Nature reviews. Neurology · 2024Review
- TRIOBP modulates β-catenin signaling by regulation of miR-29b in idiopathic pulmonary fibrosis.Cellular and molecular life sciences : CMLS · 2023Article
- Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.Molecular psychiatry · 2023Article
- Interneuron odyssey: molecular mechanisms of tangential migration.Frontiers in neural circuits · 2023Review
- Case report: A gain-of-function of hamartin may lead to a distinct "inverseFrontiers in pediatrics · 2023Article
- The diagnostic yield of CGH and WES in neurodevelopmental disorders.Frontiers in pediatrics · 2023Article
- Up-regulation of the PI3K/AKT and RHO/RAC/PAK signalling pathways in CHK1 inhibitor resistant Eµ-Myc lymphoma cells.The Biochemical journal · 2022Article
- Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.Brain : a journal of neurology · 2022Article
- Autoinhibition of the GEF activity of cytoskeletal regulatory protein Trio is disrupted in neurodevelopmental disorder-related genetic variants.The Journal of biological chemistry · 2022Article
- Comparative chromatin accessibility upon BDNF stimulation delineates neuronal regulatory elements.Molecular systems biology · 2022Article
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 3 countries.
Funding
Abstract
backgroundNeurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype gap through the discovery of new genes and variants that help to unravel the pathogenic mechanisms driving neuropathogenesis. One such discovery includes
methodsWhole-exome sequencing was undertaken on a family presenting with global developmental delay, microcephaly and mild dysmorphism. Father/daughter exome analysis was performed, followed by confirmatory Sanger sequencing and segregation analysis on four individuals. Three further patients were recruited through the deciphering developmental disorders (DDD) study. Functional studies were undertaken using patient-specific Trio protein mutations.
resultsWe identified a frameshift deletion in
conclusionsWe describe an inherited global developmental delay phenotype associated with a frameshift deletion in
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.