Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. - Wikidata - wikimedia - TriplyDB

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

http://www.wikidata.org/entity/Q45796187

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A comparison of neuroimaging findings in childhood onset schizophrenia and autism spectrum disorder: a review of the literature Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders Advancing epilepsy genetics in the genomic era Advancing the understanding of autism disease mechanisms through genetics Releasing the Cortical Brake by Non-Invasive Electromagnetic Stimulation? rTMS Induces LTD of GABAergic Neurotransmission Human gephyrin is encompassed within giant functional noncoding yin-yang sequences High content image analysis identifies novel regulators of synaptogenesis in a high-throughput RNAi screen of primary neurons Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy Synaptic proteins and receptors defects in autism spectrum disorders Postmortem brain: an underutilized substrate for studying severe mental illness Endosomal Phosphatidylinositol 3-Phosphate Promotes Gephyrin Clustering and GABAergic Neurotransmission at Inhibitory Postsynapses.Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes.MeCP2 regulates the synaptic expression of a Dysbindin-BLOC-1 network component in mouse brain and human induced pluripotent stem cell-derived neurons.Identification of candidate intergenic risk loci in autism spectrum disorder.Excess of rare variants in genes that are key epigenetic regulators of spermatogenesis in the patients with non-obstructive azoospermia.MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del.Genetic Relationship between Schizophrenia and Nicotine Dependence.α5GABAA receptor deficiency causes autism-like behaviors The possible role of GABAA receptors and gephyrin in epileptogenesis.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation.Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Gephyrin: a central GABAergic synapse organizer.Currently recognized genes for schizophrenia: High-resolution chromosome ideogram representation.Complementary contributions of basolateral amygdala and orbitofrontal cortex to value learning under uncertainty.Lifetime autism spectrum features in a patient with a psychotic mixed episode who attempted suicide.Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity.S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.Conditional neuroligin-2 knockout in adult medial prefrontal cortex links chronic changes in synaptic inhibition to cognitive impairments.Critical roles of αII spectrin in brain development and epileptic encephalopathy.Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.Inhibition in the amygdala anxiety circuitry.

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Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

http://www.wikidata.org/entity/Q45796187

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

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Rare exonic deletions implicat ...... m, schizophrenia and seizures.

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Rare exonic deletions implicat ...... m, schizophrenia and seizures.

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Rare exonic deletions implicat ...... m, schizophrenia and seizures.

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Rare exonic deletions implicat ...... m, schizophrenia and seizures.

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Rare exonic deletions implicat ...... m, schizophrenia and seizures.

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Rare exonic deletions implicat ...... m, schizophrenia and seizures.

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Human Molecular Genetics

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Andrea K Vaags

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Anne S Bassett

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Christian R Marshall

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P2860

Gephyrin, the enigmatic organizer at GABAergic synapses

Neuroligins and neurexins link synaptic function to cognitive disease

Rare chromosomal deletions and duplications increase risk of schizophrenia

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

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

Rare deletions at the neurexin 3 locus in autism spectrum disorder

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

SHANK1 Deletions in Males with Autism Spectrum Disorder

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22

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Lonnie Zwaigenbaum

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