Evidence for involvement of GNB1L in autism.

doi:10.1002/ajmg.b.32002

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Article

Evidence for involvement of GNB1L in autism.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jan 2012

Chen Ying-Zhang, Matsushita Mark, Girirajan Santhosh, Lisowski Mark, Sun Elizabeth, Sul Youngmee, Bernier Raphael, Estes Annette, Dawson Geraldine, Minshew Nancy, Shellenberg Gerard D, Eichler Evan E, Rieder Mark J, Nickerson Deborah A, Tsuang Debby W, Tsuang Ming T, Wijsman Ellen M, Raskind Wendy H, Brkanac Zoran

Abstract excerpt

Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q11.2 duplication (dup22q11.2) syndromes. The majority of del22q11.2 cases have facial and cardiac malformations, immunologic impairments, specific cognitive profile and increased risk for schizophrenia and autism spectrum disorders (ASDs). The phenotype of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22095694
DOI: 10.1002/ajmg.b.32002
PMCID: PMC3270696

Genes

TBX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

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Evidence for involvement of GNB1L in autism.PMID 22095694Read ↗

Supportive evidence for reduced expression of GNB1L in schizophrenia.Semantic proximity Read ↗

Sequencing of the coding regions of GNBIL on chromosome 22q11.2 as a risk gene of schizophrenia.Semantic proximity Read ↗

Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humansSemantic proximity Read ↗

Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia.Semantic proximity Read ↗

Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.Semantic proximity Read ↗

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardationSemantic proximity Read ↗

Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.Semantic proximity Read ↗

Strong evidence that GNB1L is associated with schizophrenia.Semantic proximity Read ↗

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.Semantic proximity Read ↗

A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in miceSemantic proximity Read ↗

Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.Semantic proximity Read ↗

The schizophrenia/bipolar disorder candidate gene GNB1L is regulated in human temporal cortex by a cis-acting element located within the 3'-region.Semantic proximity Read ↗

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