Cargando…

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

Maternal 15q11-q13 duplication is the most common copy number variant in autism, accounting for ∼1-3% of cases. The 15q11-q13 region is subject to epigenetic regulation and genomic copy number losses and gains cause genomic disorders in a parent-of-origin-specific manner. One 15q11-q13 locus encodes...

Descripción completa

Detalles Bibliográficos
Autores principales:	Delahanty, Ryan J., Kang, Jingqiong, Brune, Camille W., Kistner, Emily O., Courchesne, Eric, Cox, Nancy J., Cook, Edwin H., Macdonald, Robert L., Sutcliffe, James S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2009
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428055/ https://www.ncbi.nlm.nih.gov/pubmed/19935738 http://dx.doi.org/10.1038/mp.2009.118

Ejemplares similares

Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked Gabrb3 mutations in mice
por: Mercer, Audrey A, et al.
Publicado: (2016)

Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders
por: Chen, Chia-Hsiang, et al.
Publicado: (2014)

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci
por: Davis, Lea K, et al.
Publicado: (2012)

Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism
por: Warrier, Varun, et al.
Publicado: (2013)

Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
por: Tavassoli, Teresa, et al.
Publicado: (2012)

No Gain, Less Pain: GABRB3 Mutations in Epileptic Encephalopathy
por: Gallagher, Martin J.
Publicado: (2022)

Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation
por: Billakota, Santoshi, et al.
Publicado: (2019)

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
por: Ishii, Atsushi, et al.
Publicado: (2017)

Social Cognitive Role of Schizophrenia Candidate Gene GABRB2
por: Tsang, Shui Ying, et al.
Publicado: (2013)

Association Analysis of GABRB3 Promoter Variants with Heroin Dependence
por: Chen, Chia-Hsiang, et al.
Publicado: (2014)

GABRB2 Haplotype Association with Heroin Dependence in Chinese Population
por: Kim, Yung Su, et al.
Publicado: (2015)

Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations
por: Khair, Abdulhafeez M., et al.
Publicado: (2021)

GABRA1 and GABRB2 Polymorphisms are Associated with Propofol Susceptibility
por: Zeng, Youjie, et al.
Publicado: (2022)

A Recombination Hotspot in a Schizophrenia-Associated Region of GABRB2
por: Ng, Siu-Kin, et al.
Publicado: (2010)

Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes
por: Francis, Sunday M., et al.
Publicado: (2016)

GABA(A) Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy
por: Hernandez, Ciria C., et al.
Publicado: (2017)

Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies
por: Absalom, Nathan L, et al.
Publicado: (2020)

MUTATIONS IN THE GABRB1 GENE PROMOTE ALCOHOL CONSUMPTION THROUGH INCREASED TONIC INHIBITION
por: Anstee, Quentin M., et al.
Publicado: (2013)

Molecular and clinical descriptions of patients with GABA(A) receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation
por: Maillard, Pierre‐Yves, et al.
Publicado: (2022)

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy
por: Papandreou, Apostolos, et al.
Publicado: (2015)

A novel GABRB3 variant in Dravet syndrome: Case report and literature review
por: Pavone, Piero, et al.
Publicado: (2020)

Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism
por: Chen, Rui, et al.
Publicado: (2017)

Maternal immune activation dysregulation of the fetal brain transcriptome and relevance to the pathophysiology of autism spectrum disorder
por: Lombardo, M V, et al.
Publicado: (2018)

Highly Recurrent Copy Number Variations in GABRB2 Associated With Schizophrenia and Premenstrual Dysphoric Disorder
por: Ullah, Ata, et al.
Publicado: (2020)

Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABA(A) receptors
por: Hernandez, Ciria C, et al.
Publicado: (2021)

Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3
por: Jiang, Yong-hui, et al.
Publicado: (2010)

Gabrb3 endothelial cell-specific knockout mice display abnormal blood flow, hypertension, and behavioral dysfunction
por: Agrud, Anass, et al.
Publicado: (2022)

Gabrb2-knockout mice displayed schizophrenia-like and comorbid phenotypes with interneuron–astrocyte–microglia dysregulation
por: Yeung, Rigil K., et al.
Publicado: (2018)

Functional analysis of haplotypes and promoter activity at the 5′ region of the human GABRB3 gene and associations with schizophrenia
por: Liu, Yi, et al.
Publicado: (2019)

Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1(−/−) mice
por: Wang, Jing, et al.
Publicado: (2023)

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes
por: Kumar, Ravinesh A., et al.
Publicado: (2009)

Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report
por: Zhang, Yi, et al.
Publicado: (2017)

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
por: Absalom, Nathan L., et al.
Publicado: (2022)

STAMS: STRING-assisted module search for genome wide association studies and application to autism
por: Hillenmeyer, Sara, et al.
Publicado: (2016)

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome
por: Campbell, Nicholas G, et al.
Publicado: (2013)

Meta-analysis of GABRB2 polymorphisms and the risk of schizophrenia combined with GWAS data of the Han Chinese population and psychiatric genomics consortium
por: Zhang, Tian, et al.
Publicado: (2018)

High Mobility Group Box 1/Toll-like Receptor 4 Signaling Increases GABRB3 Expression in Alcohol Exposure
por: Sun, Guangtao, et al.
Publicado: (2021)

GABRB1 Single Nucleotide Polymorphism Associated with Altered Brain Responses (but not Performance) during Measures of Impulsivity and Reward Sensitivity in Human Adolescents
por: Duka, Theodora, et al.
Publicado: (2017)

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
por: Kumar, Ravinesh A, et al.
Publicado: (2009)

Hierarchical cortical transcriptome disorganization in autism
por: Lombardo, Michael V., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_ee3lec1vi92c4g2e83s58tq4sf