Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes. - Wikidata - awgldk - TriplyDB

Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.

Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.

http://www.wikidata.org/entity/Q33647511

about

Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.Gene dosage in the dysbindin schizophrenia susceptibility network differentially affect synaptic function and plasticity Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor.The Proteome of BLOC-1 Genetic Defects Identifies the Arp2/3 Actin Polymerization Complex to Function Downstream of the Schizophrenia Susceptibility Factor Dysbindin at the Synapse Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.

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Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.

http://www.wikidata.org/entity/Q33647511

description

2013 nî lūn-bûn

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2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Autism spectrum disorders and schizophrenia: meta-analysis of the neural correlates of social cognition

Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics

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

The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα

The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes

Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

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