Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
about
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism.SYNGAP1: Mind the GapAdvancing epilepsy genetics in the genomic eraTwo knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis.Rapid dispersion of SynGAP from synaptic spines triggers AMPA receptor insertion and spine enlargement during LTP.Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Phase Transition in Postsynaptic Densities Underlies Formation of Synaptic Complexes and Synaptic PlasticityActin-Dependent Alterations of Dendritic Spine Morphology in ShankopathiesA Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Prioritizing the development of mouse models for childhood brain disordersReduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neuronsDecrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.A de novo convergence of autism genetics and molecular neuroscience.FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.A polygenic burden of rare disruptive mutations in schizophrenia.Recurrent de novo mutations implicate novel genes underlying simplex autism riskSyngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assemblyPhosphorylation of synaptic GTPase-activating protein (synGAP) by Ca2+/calmodulin-dependent protein kinase II (CaMKII) and cyclin-dependent kinase 5 (CDK5) alters the ratio of its GAP activity toward Ras and Rap GTPasesEffective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeConvergence of Hippocampal Pathophysiology in Syngap+/- and Fmr1-/y Mice.SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity.Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.A model for regulation by SynGAP-α1 of binding of synaptic proteins to PDZ-domain 'Slots' in the postsynaptic densitymirDNMR: a gene-centered database of background de novo mutation rates in human.Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsinsGenetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.Wnt-related SynGAP1 is a neuroprotective factor of glutamatergic synapses against Aβ oligomers.A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies.Tau exacerbates excitotoxic brain damage in an animal model of stroke.Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders.Network Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules.Exome sequencing as a diagnostic tool for pediatric-onset ataxia.Abnormalities in Interactions of Rho GTPases with Scaffolding Proteins Contribute to Neurodevelopmental Disorders.Anchoring high concentrations of SynGAP at postsynaptic densities via liquid-liquid phase separation.The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.
P2860
Q24602558-59748B10-9455-4466-8D83-4028655CC2C2Q24612710-A98A6B6C-F47C-46C5-9354-18717FCD79E2Q26766506-A83E1F2F-7EF7-47AC-9FC0-BAD7237EA1DBQ26798035-13D4A4B0-18C6-4330-B3E0-7F4D11B28E21Q27301001-C3959C7C-B4FE-4FC5-99A3-C7AFD34D1F7BQ27306257-F5F77F76-2623-43AC-8DFE-59C5D3E4DB23Q27322815-65F84401-C284-4348-8AA8-BB64B16063CDQ27727746-FC94901E-8988-40EE-A60E-07FBE914AB44Q28066333-617FACB5-3FC2-4B25-8120-82C714B371C2Q28079929-33AA6BA2-72D5-4EEA-AB2D-3A25DD2036E3Q30366940-CAE5CF76-C727-41CD-B4C1-A35DC9BA022AQ30584376-99A9F35D-81DD-46E1-886B-ECC8316F6BE6Q30828334-FF30B8BA-AFE3-4C53-82C2-6E4CA43F01C1Q33759405-7EA26305-B56B-4B08-9EBF-5F6C956E2D4FQ33794546-01E13A3C-145D-41B1-9F64-DD316EADDFABQ33830989-8BCC4B3F-2B77-40E4-9BE8-22E3E625DC2EQ34000906-F431F099-B2B4-44A3-B901-CC37E4CDCD37Q34060200-50F14EFB-2B15-42A7-A94A-78B9404200F0Q34449179-4ED6E520-E0AD-4532-B45D-E5B9CD54F6BAQ35079596-379AB06A-AA1C-48A1-9D05-66CE22C84B41Q35103953-CBBB2260-D5C1-4DB2-B653-C5F723121B53Q35237812-823DAD4E-59E8-48AC-B12D-0D3F91D39B42Q36272528-DB6B00A2-58D5-454A-A16B-870D33226CDDQ36938289-7D2B354F-BB8D-4AB0-A482-8FE7C9DEFED1Q37217014-057907D3-7FC2-427C-80F7-E551A429C1F6Q37292998-E463CAA9-C8B9-46AB-86F4-5177494B67BFQ37556733-FF7B8670-4D84-4512-9117-890314670EB3Q38252584-BFF3A45E-81FF-4324-ABAC-EC4D9E377B81Q38779251-761DC17F-089A-44A1-90F3-9CA7B2C3D359Q38858601-870FBAC1-52EF-4E30-9E05-48D34DA65E19Q39666452-2306F722-48A8-4925-8BC9-7714568A68D9Q40879974-6EA00C0B-2757-4FCA-9D4D-D928E2D37FD9Q41545476-ECE2CB00-A085-4DD7-8E60-F5DD364F50B5Q41868330-9B0BD4F8-7320-4FCD-BE2B-A9345F00F125Q42368125-7464CABB-05AD-4F2E-AC3B-1B08BD2EB0D1Q43054775-68BCFDC1-AEEC-4C0D-8A21-E1730D873F9FQ47371606-825EBD2E-940F-4E92-A2EF-C667A656EE82Q48034764-4E7783AC-9494-4B29-BEC3-961E2C13CD7EQ48506226-8F8A6E8F-B087-493A-9AFF-80FAC9BBCE99Q48513662-B1CCF2C8-FEA1-4F15-B0BC-C8442EC7DA39
P2860
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Mutations in SYNGAP1 cause int ...... y inducing haploinsufficiency.
@en
Mutations in SYNGAP1 cause int ...... y inducing haploinsufficiency.
@nl
type
label
Mutations in SYNGAP1 cause int ...... y inducing haploinsufficiency.
@en
Mutations in SYNGAP1 cause int ...... y inducing haploinsufficiency.
@nl
prefLabel
Mutations in SYNGAP1 cause int ...... y inducing haploinsufficiency.
@en
Mutations in SYNGAP1 cause int ...... y inducing haploinsufficiency.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations in SYNGAP1 cause int ...... y inducing haploinsufficiency.
@en
P2093
Christine M Eng
Céline Belhumeur
Daniel Rochefort
Fadi F Hamdan
Gayle Simpson Patel
Graziella Di Cristo
Helle Hjalgrim
Jacek Majewski
Jacques L Michaud
Jean-Claude Lacaille
P2860
P304
P356
10.1002/HUMU.22248
P577
2012-12-12T00:00:00Z