Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
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Exome sequencing identifies ZNF644 mutations in high myopiaMutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthSeizures and X-linked intellectual disabilityMolecular Machines Determining the Fate of Endocytosed Synaptic Vesicles in Nerve TerminalsRegulation of small GTPases by GEFs, GAPs, and GDIsRab and Arf proteins in genetic diseasesGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXSynArfGEF is a guanine nucleotide exchange factor for Arf6 and localizes preferentially at post-synaptic specializations of inhibitory synapsesBidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depressionNovel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 FamilyEpileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.The BRAG/IQSec family of Arf GEFs.Arf6-GEF BRAG1 regulates JNK-mediated synaptic removal of GluA1-containing AMPA receptors: a new mechanism for nonsyndromic X-linked mental disorder.Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityIntellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Another locus, a new method.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.ARF family G proteins and their regulators: roles in membrane transport, development and disease.Discovering New Genes in the Pathways of Common Sporadic Neurodegenerative Diseases: A Bioinformatics Approach.Next-generation sequencing in X-linked intellectual disability.A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.IQ Motif and SEC7 Domain-containing Protein 3 (IQSEC3) Interacts with Gephyrin to Promote Inhibitory Synapse Formation.Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation.Allosteric properties of PH domains in Arf regulatory proteins.De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.Application of next-generation sequencing in clinical oncology to advance personalized treatment of cancerTargeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.Allosteric regulation of Arf GTPases and their GEFs at the membrane interface.Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.Emerging major synaptic signaling pathways involved in intellectual disability.Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse.Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.Clinical Applications of Next-Generation Sequencing in Cancer Diagnosis.
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P2860
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
description
2010 nî lūn-bûn
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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2010 թվականի մայիսին հրատարակված գիտական հոդված
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年學術文章
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name
Mutations in the guanine nucle ...... dromic intellectual disability
@ast
Mutations in the guanine nucle ...... dromic intellectual disability
@en
Mutations in the guanine nucle ...... dromic intellectual disability
@nl
type
label
Mutations in the guanine nucle ...... dromic intellectual disability
@ast
Mutations in the guanine nucle ...... dromic intellectual disability
@en
Mutations in the guanine nucle ...... dromic intellectual disability
@nl
prefLabel
Mutations in the guanine nucle ...... dromic intellectual disability
@ast
Mutations in the guanine nucle ...... dromic intellectual disability
@en
Mutations in the guanine nucle ...... dromic intellectual disability
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in the guanine nucle ...... dromic intellectual disability
@en
P2093
Alison Gardner
Anna Hackett
Anne Proos
Charles E Schwartz
F Lucy Raymond
Fatima Abidi
Gill Turner
Helen Puusepp
Jackie Boyle
Jessica A Murphy
P2860
P2888
P304
P356
10.1038/NG.588
P407
P577
2010-05-16T00:00:00Z