15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders - Test2 - elhamkhani - TriplyDB

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

http://www.wikidata.org/entity/Q24683678

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Pathophysiological power of improper tonic GABA(A) conductances in mature and immature models.Advances in autism genetics: on the threshold of a new neurobiology The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13 Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism Abnormal transmethylation/transsulfuration metabolism and DNA hypomethylation among parents of children with autism 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 Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes Environmental chemical exposures and autism spectrum disorders: a review of the epidemiological evidence Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.Immunologic and neurodevelopmental susceptibilities of autism Evaluation of the neuroactive steroid ganaxolone on social and repetitive behaviors in the BTBR mouse model of autism Comprehensive Map of Molecules Implicated in Obesity Novel susceptibility genes associated with diabetic cataract in a Taiwanese population GABA receptor subunit distribution and FMRP-mGluR5 signaling abnormalities in the cerebellum of subjects with schizophrenia, mood disorders, and autism.Somatosensory and sensorimotor consequences associated with the heterozygous disruption of the autism candidate gene, Gabrb3.Brain plasticity and disease: a matter of inhibition.Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice.Low-dose thyroxine attenuates autism-associated adverse effects of fetal alcohol in male offspring's social behavior and hippocampal gene expression.Gender influences monoallelic expression of ATP10A in human brain GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.mRNA and protein levels for GABAAalpha4, alpha5, beta1 and GABABR1 receptors are altered in brains from subjects with autism Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism Mutations affecting GABAergic signaling in seizures and epilepsy.Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain.Evidence for linkage and association of GABRB3 and GABRA5 to panic disorder.Population- and family-based studies associate the MTHFR gene with idiopathic autism in simplex families.DNA methylation profiling across the spectrum of HPV-associated anal squamous neoplasia.Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.The role of MeCP2 in CNS development and function.Extensive epigenetic reprogramming in human somatic tissues between fetus and adult Random or stochastic monoallelic expressed genes are enriched for neurodevelopmental disorder candidate genes.Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.Alterations in GABAergic biomarkers in the autism brain: research findings and clinical implications.15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.An open-label naturalistic pilot study of acamprosate in youth with autistic disorder.

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15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders

http://www.wikidata.org/entity/Q24683678

description

2007 nî lūn-bûn

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2007 թվականի մարտին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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Human Molecular Genetics

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15q11-13 GABAA receptor genes ...... n in autism-spectrum disorders

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Amber Hogart

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Dag H Yasui

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Janine M Lasalle

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Katherine A Patzel

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Raman P Nagarajan

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P2860

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

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

UBE3A/E6-AP mutations cause Angelman syndrome

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome

SATB1 targets chromatin remodelling to regulate genes over long distances

Identification of MeCP2 mutations in a series of females with autistic disorder

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10.1093/HMG/DDM014

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6

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16

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2007-03-15T00:00:00Z

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6468031

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17339270

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Autism spectrum

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1934608

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