Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism - Wikidata - wikimedia - TriplyDB

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

http://www.wikidata.org/entity/Q36190572

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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture Letting a typical mouse judge whether mouse social interactions are atypical A brain region-specific predictive gene map for autism derived by profiling a reference gene set Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3.SK3 Channel Overexpression in Mice Causes Hippocampal Shrinkage Associated with Cognitive Impairments.Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.Genetic analysis of biological pathway data through genomic randomization.Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders Evidence for linkage and association of GABRB3 and GABRA5 to panic disorder.mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models.A genome-wide survey of transgenerational genetic effects in autism.Autism: a "critical period" disorder?Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.An open-label naturalistic pilot study of acamprosate in youth with autistic disorder.Single nucleotide polymorphisms predict symptom severity of autism spectrum disorder.The neurobiology of mouse models syntenic to human chromosome 15q.Broad autism phenotype features of Chinese parents with autistic children and their associations with severity of social impairment in probands.GABA system dysfunction in autism and related disorders: from synapse to symptoms Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways Compromising the phosphodependent regulation of the GABAAR β3 subunit reproduces the core phenotypes of autism spectrum disorders Translational approaches to the biology of Autism: false dawn or a new era?Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder Parent-of-origin Effect in Schizophrenia and Non-affective Psychoses: Evidence from Dermatoglyphics.Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism.The impact of tonic GABAA receptor-mediated inhibition on neuronal excitability varies across brain region and cell type.Mutations in GABAA receptor subunits associated with genetic epilepsies.A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors.The contribution of epigenetics to understanding genetic factors in autism.The complex genetics in autism spectrum disorders.Autism spectrum disorder in the scope of tactile processing.Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner Parental origin, DNA structure, and the schizophrenia spectrum GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.Epigenetics and cerebral organoids: promising directions in autism spectrum disorders.Dysregulation of Cortical Neuron DNA Methylation Profile in Autism Spectrum Disorder.

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

http://www.wikidata.org/entity/Q36190572

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2009年论文

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2009年论文

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2009年论文

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

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Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

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C W Brune

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E Courchesne

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E H Cook

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E O Kistner

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J Q Kang

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J S Sutcliffe

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N J Cox

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R J Delahanty

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R L Macdonald

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Advances in autism genetics: on the threshold of a new neurobiology

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

High frequency of neurexin 1beta signal peptide structural variants in patients with autism

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism

Contribution of SHANK3 mutations to autism spectrum disorder

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

Structural variation of chromosomes in autism spectrum disorder

Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder

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