Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. - Wikidata - thesis-toulmin - TriplyDB

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

http://www.wikidata.org/entity/Q36156859

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The circadian clock regulates autophagy directly through the nuclear hormone receptor Nr1d1/Rev-erbα and indirectly via Cebpb/(C/ebpβ) in zebrafish.Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability Altered glutamate protein co-expression network topology linked to spine loss in the auditory cortex of schizophrenia.Ras and Rap signaling in synaptic plasticity and mental disorders.X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes Contribution of the global subunit structure and stargazin on the maturation of AMPA receptors The genetic basis of non-syndromic intellectual disability: a review The biochemistry, ultrastructure, and subunit assembly mechanism of AMPA receptors.Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.Characterization of Disease-Associated Mutations in Human Transmembrane Proteins A novel approach for multi-SNP GWAS and its application in Alzheimer's disease Partial deletion of GLRB and GRIA2 in a patient with intellectual disability Lessons learnt from large-scale exon re-sequencing of the X chromosome Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.Effects of glutamate positive modulators on cognitive deficits in schizophrenia: a systematic review and meta-analysis of double-blind randomized controlled trials.Glutamatergic candidate genes in autism spectrum disorder: an overview.Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability Glutamate receptors and learning and memory.De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors.Impaired auditory processing and altered structure of the endbulb of Held synapse in mice lacking the GluA3 subunit of AMPA receptors.Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.Synaptic Disorders Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

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Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

http://www.wikidata.org/entity/Q36156859

description

2007 nî lūn-bûn

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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2007年论文

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2007年论文

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name

Mutations in ionotropic AMPA r ...... ognitive impairment in humans.

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Mutations in ionotropic AMPA r ...... ognitive impairment in humans.

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Mutations in ionotropic AMPA r ...... ognitive impairment in humans.

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Mutations in ionotropic AMPA r ...... ognitive impairment in humans.

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Mutations in ionotropic AMPA r ...... ognitive impairment in humans.

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Mutations in ionotropic AMPA r ...... ognitive impairment in humans.

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PNAS.0708699104

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Proceedings of the National Academy of Sciences of the United States of America

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Mutations in ionotropic AMPA r ...... ognitive impairment in humans.

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Amy C Arai

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Anand K Srivastava

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Andy Futreal

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Charles E Schwartz

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David Valle

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Erika Suzuki

http://www.w3.org/2001/XMLSchema#string

F Lucy Raymond

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Gavin Rumbaugh

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Gillian Turner

http://www.w3.org/2001/XMLSchema#string

Guy Froyen

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P2860

A synaptic model of memory: long-term potentiation in the hippocampus

Centrally active modulators of glutamate receptors facilitate the induction of long-term potentiation in vivo

X chromosome cDNA microarray screening identifies a functional PLP2 promoter polymorphism enriched in patients with X-linked mental retardation.

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus

Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Inhibition of proteasome activities and subunit-specific amino-terminal threonine modification by lactacystin

AMPA receptor trafficking at excitatory synapses

Cloned glutamate receptors

Recurrence risks in mental retardation

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46

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104

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Takashi Hayashi

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2007-11-07T00:00:00Z

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5857944

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