A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
about
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationKainate receptors coming of age: milestones of two decades of researchExome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureMutations in SYNGAP1 in autosomal nonsyndromic mental retardationCC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaA reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breedsA truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyExcess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityA gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficitsGenes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.Complete Disruption of the Kainate Receptor Gene Family Results in Corticostriatal Dysfunction in Mice.Inferring Selective Constraint from Population Genomic Data Suggests Recent Regulatory Turnover in the Human Brain.Complex aetiology of an apparently Mendelian form of mental retardation.Rabbit genome analysis reveals a polygenic basis for phenotypic change during domestication.Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disabilityArray-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.The genetic basis of non-syndromic intellectual disability: a reviewNeuronal SUMOylation: mechanisms, physiology, and roles in neuronal dysfunction.Loss of PCLO function underlies pontocerebellar hypoplasia type IIIBOD1 Is Required for Cognitive Function in Humans and Drosophila.Exome sequencing and the genetics of intellectual disability.Single gene disorders come into focus--again.Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneityIonotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.New perspectives for the elucidation of genetic disordersInvestigation of genetic causes of intellectual disability in kerman province, South East of iran.Mutations in NSUN2 cause autosomal-recessive intellectual disability.Therapeutic potential of kainate receptors.Partial deletion of GLRB and GRIA2 in a patient with intellectual disabilityA defect in the TUSC3 gene is associated with autosomal recessive mental retardationGluK2-mediated excitability within the superficial layers of the entorhinal cortexCombination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.The role of ionotropic glutamate receptors in childhood neurodevelopmental disorders: autism spectrum disorders and fragile x syndrome.N-linked glycosylation of cortical N-methyl-D-aspartate and kainate receptor subunits in schizophrenia.Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotypeKainate receptors in the hippocampus.
P2860
Q24309324-C22D4EF5-6437-4248-851D-B5D4D9EF402AQ24606030-8A9B80D6-26B5-409B-9609-9D99600BA05AQ24612956-E51576D3-D1E8-4D9D-BF35-CF8152D1202FQ24615911-A96C01E8-2426-45D1-838C-7AA23B7BDCECQ24629491-9909A008-5DF9-42A3-AC6D-921F03BBABC2Q24655494-A9CA3722-07E6-49B2-A8A2-1FD313A8E350Q26779566-63E189FB-193F-4AFE-858D-9BFFA69057FCQ28118296-EC9DA42E-76C6-4D56-9EEF-95A34D350B3EQ29144196-48592FB5-2211-4325-9D5E-8D40224559B9Q29347515-5FB7A2F6-5F44-468B-A3F5-109E0A92C814Q30498085-1D7CBC56-FA8F-4D9E-80AC-D6164C2414C6Q30840029-72B33356-2C7B-4962-B32A-B14392C87E9AQ31026943-124729F9-5568-4800-B739-82DA8116EEEBQ33318575-EC004055-FB25-4832-A56B-255B9260BAA6Q33647648-4BB1B984-982D-4795-A2F0-4452AAB3A964Q33845730-D5D74DD5-E4B2-4821-9E65-A26D37C6B2B7Q33879761-423EFC15-535C-4CB3-852F-F73B8B40ED78Q34009396-D37F6518-D2C4-4EED-AD78-18CCD98028F3Q34283901-348F8244-3222-4890-87BC-7B9A410C6FA7Q34295237-CDB91F12-49AF-473E-BC33-8399DF58FE34Q34469835-AD7B00AB-6397-4651-AD89-4B732ADB8137Q34526053-037E7F87-6230-4278-BB6D-EC55FB2020C7Q35129654-30A03713-3EA2-4777-BFDC-C12DA97EB2D0Q35237181-D350C49C-0322-4D04-A4DE-994AC016B058Q35406344-4D18B6B7-4220-4DE9-8B8B-019ACC8BDD28Q35745930-EB4C33A2-83EC-477C-A9A1-1DF57ADF6616Q35828248-2629200C-17E6-4B23-A9AC-A2C3F98A1BF1Q35946291-56A7B534-1BC5-40A4-BC63-FA4A960FECE5Q36022689-6E759353-D4C8-4A0F-A4F4-F1CDD24B84E4Q36036572-847E65A9-2624-47B0-8C15-1AB48B420367Q36199193-0B78BF1C-54B1-4358-BF38-5978D11CB60DQ36466460-82A278E4-B9E4-4B2F-A154-E160EE90F911Q37118375-E8DD0C2C-3295-4EA3-A760-4910D79D84BCQ37184677-CE09BD6E-B8E2-4C01-9950-96400E06B6A2Q37483259-85C96F64-B6B7-40D8-B963-1F8CE9676311Q37559828-E7D730C8-BBE5-4D01-B6BC-6AC0BCD2686FQ37574387-8AD50456-E790-474E-888B-172027AD5D6BQ37607775-213890BF-4736-4A5A-A3F3-972891A106F6Q38006841-043CA974-1592-4167-9255-400B83A67521Q38205016-FB1E4470-F3E0-42EA-9B54-252F78BB9D0E
P2860
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
A defect in the ionotropic glu ...... l recessive mental retardation
@ast
A defect in the ionotropic glu ...... l recessive mental retardation
@en
A defect in the ionotropic glu ...... l recessive mental retardation
@nl
type
label
A defect in the ionotropic glu ...... l recessive mental retardation
@ast
A defect in the ionotropic glu ...... l recessive mental retardation
@en
A defect in the ionotropic glu ...... l recessive mental retardation
@nl
prefLabel
A defect in the ionotropic glu ...... l recessive mental retardation
@ast
A defect in the ionotropic glu ...... l recessive mental retardation
@en
A defect in the ionotropic glu ...... l recessive mental retardation
@nl
P2093
P2860
P50
P3181
P356
P1476
A defect in the ionotropic glu ...... l recessive mental retardation
@en
P2093
Andreas Walter Kuss
Benjamin Rainer Rost
Chandan Goswami
Dietmar Schmitz
Hans Hilger Ropers
Kimia Kahrizi
Lars Riff Jensen
Mohammad Mahdi Motazacker
Saeid Hosseini Amini
Sahar Esmaeeli Nieh
P2860
P3181
P356
10.1086/521275
P407
P577
2007-10-01T00:00:00Z