Association of common variants in the Joubert syndrome gene (AHI1) with autism. - Wikidata - awgldk - TriplyDB

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

http://www.wikidata.org/entity/Q37089615

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Recent advances in the pathogenesis of syndromic autisms The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions The primary cilium as a cellular signaling center: lessons from disease Consensus paper: pathological role of the cerebellum in autism Primary cilia in the developing and mature brain Neuronal Abelson helper integration site-1 (Ahi1) deficiency in mice alters TrkB signaling with a depressive phenotype.Loss of Ahi1 impairs neurotransmitter release and causes depressive behaviors in mice Loss of Ahi1 affects early development by impairing BM88/Cend1-mediated neuronal differentiation Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders AHI-1: a novel signaling protein and potential therapeutic target in human leukemia and brain disorders.Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.Alterations in the expression of a neurodevelopmental gene exert long-lasting effects on cognitive-emotional phenotypes and functional brain networks: translational evidence from the stress-resilient Ahi1 knockout mouse.Impact of the AHI1 gene on the vulnerability to schizophrenia: a case-control association study.Human genetic disorders of axon guidance.A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.Bio-collections in autism research.Cilia in the CNS: the quiet organelle claims center stage Developmental heterochrony and the evolution of autistic perception, cognition and behavior Abelson helper integration site-1 gene variants on major depressive disorder and bipolar disorder Functional Interactions between BM88/Cend1, Ran-binding protein M and Dyrk1B kinase affect cyclin D1 levels and cell cycle progression/exit in mouse neuroblastoma cells.The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling Methylomic analysis of monozygotic twins discordant for childhood psychotic symptoms.Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.Autism spectrum disorders--a genetics review.A review of the evidence for the canonical Wnt pathway in autism spectrum disorders.Autism spectrum disorders: the quest for genetic syndromes.Expanding horizons: ciliary proteins reach beyond cilia.Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops.Endosomal system genetics and autism spectrum disorders: A literature review.Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.Allowing for sex differences increases power in a GWAS of multiplex Autism families.Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity.Tyrosine hydroxylase down-regulation after loss of Abelson helper integration site 1 (AHI1) promotes depression via the circadian clock pathway in mice.Effect of chronic unpredictable stress on mice with developmental under-expression of the Ahi1 gene: behavioral manifestations and neurobiological correlates.

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Association of common variants in the Joubert syndrome gene (AHI1) with autism.

http://www.wikidata.org/entity/Q37089615

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 09 September 2008

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

@en

Association of common variants in the Joubert syndrome gene

@nl

type

label

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

@en

Association of common variants in the Joubert syndrome gene

@nl

prefLabel

Association of common variants in the Joubert syndrome gene (AHI1) with autism.

@en

Association of common variants in the Joubert syndrome gene

@nl

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Human Molecular Genetics

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Association of common variants in the Joubert syndrome gene (AHI1) with autism.

@en

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Ana I Alvarez Retuerto

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

Anna Ustaszewska

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

Joseph G Gleeson

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Len A Pennacchio

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Rita M Cantor

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

Wendy S Schackwitz

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P2860

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

Genetics of austim: complex aetiology for a heterogeneous disorder

The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing

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

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

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

A genomewide screen of 345 families for autism-susceptibility loci.

Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

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3887-3896

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scholarly article

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10.1093/HMG/DDN291

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24

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17

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Daniel Geschwind

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2008-09-09T00:00:00Z

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23248548

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18782849

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2638573

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