Mutations specific to the Rac-GEF domain ofTRIOcause intellectual disability and microcephaly
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Mutations specific to the Rac-GEF domain ofTRIOcause intellectual disability and microcephaly
Authors
Keywords
-
Journal
JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 11, Pages 735-742
Publisher
BMJ
Online
2016-07-15
DOI
10.1136/jmedgenet-2016-103942
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Trio gene is required for mouse learning ability
- (2015) Wen Zong et al. BRAIN RESEARCH
- Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing
- (2015) R.J. Pengelly et al. CLINICAL GENETICS
- TRIOloss of function is associated with mild intellectual disability and affects dendritic branching and synapse function
- (2015) Wei Ba et al. HUMAN MOLECULAR GENETICS
- Dynamic Microtubules Catalyze Formation of Navigator-TRIO Complexes to Regulate Neurite Extension
- (2014) Jeffrey van Haren et al. CURRENT BIOLOGY
- Identification of a mitotic Rac-GEF, Trio, that counteracts MgcRacGAP function during cytokinesis
- (2014) Aude Cannet et al. MOLECULAR BIOLOGY OF THE CELL
- Molecular and Cellular Basis of Autosomal Recessive Primary Microcephaly
- (2014) Marine Barbelanne et al. Biomed Research International
- DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
- (2013) Eugene Bragin et al. NUCLEIC ACIDS RESEARCH
- KCNJ2mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia
- (2013) Makarand Deo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A SNP profiling panel for sample tracking in whole-exome sequencing studies
- (2013) Reuben J Pengelly et al. Genome Medicine
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Predicting the effects of frameshifting indels
- (2012) Jing Hu et al. GENOME BIOLOGY
- Genetic and Epigenetic Networks in Intellectual Disabilities
- (2011) Hans van Bokhoven Annual Review of Genetics
- Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
- (2010) William McLaren et al. BIOINFORMATICS
- The Human Phenotype Ontology
- (2010) PN Robinson et al. CLINICAL GENETICS
- Trio Is a Key Guanine Nucleotide Exchange Factor Coordinating Regulation of the Migration and Morphogenesis of Granule Cells in the Developing Cerebellum
- (2010) Ya-Jing Peng et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Growth Cone Cytoskeleton in Axon Outgrowth and Guidance
- (2010) E. W. Dent et al. Cold Spring Harbor Perspectives in Biology
- Familial multiple ventricular extrasystoles, short stature, craniofacial abnormalities and digital hypoplasia: a further case of Stoll syndrome?
- (2009) Catherine L. Mercer et al. CLINICAL DYSMORPHOLOGY
- Trio Mediates Netrin-1-Induced Rac1 Activation in Axon Outgrowth and Guidance
- (2008) A. Briancon-Marjollet et al. MOLECULAR AND CELLULAR BIOLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started