Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome. - Wikidata - awgldk - TriplyDB

Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

http://www.wikidata.org/entity/Q35200175

about

Pathophysiological power of improper tonic GABA(A) conductances in mature and immature models.Pairing and anti-pairing: a balancing act in the diploid genome Pairing of homologous regions in the mouse genome is associated with transcription but not imprinting status Prospective MEG biomarkers in ASD: pre-clinical evidence and clinical promise of electrophysiological signatures.Synaptic proteins and receptors defects in autism spectrum disorders Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.Nicotinic receptor alpha7 expression identifies a novel hematopoietic progenitor lineage.Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1.Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR GABA system dysfunction in autism and related disorders: from synapse to symptoms Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: a pilot [(11)C]Ro15-4513 positron emission tomography study.The human clinical phenotypes of altered CHRNA7 copy number Epigenetic layers and players underlying neurodevelopment.Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes.Dosage-sensitivity of imprinted genes expressed in the brain: 15q11-q13 and neuropsychiatric illness.The contribution of epigenetics to understanding genetic factors in autism.GABAergic dysfunction in pediatric neuro-developmental disorders.Convergence of circuit dysfunction in ASD: a common bridge between diverse genetic and environmental risk factors and common clinical electrophysiology.The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus.Localization of heat shock protein HSPA6 (HSP70B') to sites of transcription in cultured differentiated human neuronal cells following thermal stress.Functional effects of polymorphisms on glucocorticoid receptor modulation of human anxiogenic substance-P gene promoter activity in primary amygdala neurones UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons.Abnormal Microglia and Enhanced Inflammation-Related Gene Transcription in Mice with Conditional Deletion of Ctcf in Camk2a-Cre-Expressing Neurons.Epigenetics and cerebral organoids: promising directions in autism spectrum disorders.Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus.Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.Bromodomain protein BRD4 inhibitor JQ1 regulates potential prognostic molecules in advanced renal cell carcinoma.Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility

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Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

http://www.wikidata.org/entity/Q35200175

description

2011 nî lūn-bûn

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2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2011 թվականի հուլիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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Neuron-specific impairment of ...... uman 15q-duplication syndrome.

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Neuron-specific impairment of ...... uman 15q-duplication syndrome.

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Human Molecular Genetics

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Neuron-specific impairment of ...... uman 15q-duplication syndrome.

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Dag H Yasui

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

Diane I Schroeder

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

Janine M Lasalle

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

Makiko Meguro-Horike

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Mitsuo Oshimura

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Shin-ichi Horike

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Weston Powell

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P2860

Copy-number variations associated with neuropsychiatric conditions

Genetics of austim: complex aetiology for a heterogeneous disorder

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

CTCF binding at the H19 imprinting control region mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to Igf2

UBE3A/E6-AP mutations cause Angelman syndrome

Functional impact of global rare copy number variation in autism spectrum disorders

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

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

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

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3798-3810

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10.1093/HMG/DDR298

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19

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20

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21725066

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3168289

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