Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.

The results from several genome scans indicate that chromosome 2q21-q33 is likely to contain an autism susceptibility locus. We studied the potential contribution of nine positional and functional candidate genes: TBR-1; GAD1; DLX1; DLX2; cAMP-GEFII; CHN1; ATF2; HOXD1 and NEUROD1. Screening these ge...

書誌詳細
主要な著者:	Bacchelli, E, Blasi, F, Biondolillo, M, Lamb, J, Bonora, E, Barnby, G, Parr, J, Beyer, K, Klauck, S, Poustka, A, Bailey, A, Monaco, A, Maestrini, E
フォーマット:	Journal article
言語:	English
出版事項:	2003

類似資料

Analysis of nine candidate genes for autism on chromosome 2q.
著者:: Maestrini, E, 等
出版事項: (2002)

International molecular genetic study of autism consortium (IMGSAC). Towards identification of autism susceptibility variants in the IMGSAC sample
著者:: Lamb, J, 等
出版事項: (2004)

Analysis of reelin as a candidate gene for autism.
著者:: Bonora, E, 等
出版事項: (2003)

Linkage and candidate gene studies of autism spectrum disorders in European populations.
著者:: Holt, R, 等
出版事項: (2010)

Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region.
著者:: Bonora, E, 等
出版事項: (2002)

Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region
著者:: Bonora, E, 等
出版事項: (2002)

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
著者:: Blasi, F, 等
出版事項: (2006)

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects.
著者:: Lamb, J, 等
出版事項: (2005)

A gene centric association study of 1500 SNPs in the chromosome 2q autism susceptibility locus
著者:: Bacchelli, E, 等
出版事項: (2006)

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
著者:: Bonora, E, 等
出版事項: (2005)

Analysis of Reelin in autism.
著者:: Bonora, E, 等
出版事項: (2002)

High-density SNP association study of the autism susceptibility loci on chromosome 7q
著者:: Sykes, N, 等
出版事項: (2006)

Autism: in search of susceptibility genes.
著者:: Lamb, J, 等
出版事項: (2002)

Identifying autism susceptibility genes.
著者:: Maestrini, E, 等
出版事項: (2000)

Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations.
著者:: Toma, C, 等
出版事項: (2007)

Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene
著者:: Md. Nazmul Islam Bappy, 等
出版事項: (2022-01-01)

Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry.
著者:: Sousa, I, 等
出版事項: (2010)

A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity
著者:: Silvia Sookoian, 等
出版事項: (2009-10-01)

Linkage to the AUTS1 locus and analysis of candidate genes for autism on chromosome 7q.
著者:: Bonora, E, 等
出版事項: (2003)

Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene
著者:: Muhammad Irfan, 等
出版事項: (2022-11-01)

Two common nonsynonymous paraoxonase 1 (<it>PON1</it>) gene polymorphisms and brain astrocytoma and meningioma
著者:: Martínez Carmen, 等
出版事項: (2010-08-01)

Evolutionary dependency of cancer mutations in gene pairs inferred by nonsynonymous-synonymous mutation ratios
著者:: Dong-Jin Han, 等
出版事項: (2024-08-01)

Genome bioinformatic analysis of nonsynonymous SNPs
著者:: Todd John A, 等
出版事項: (2007-08-01)

Constraining models of dominance for nonsynonymous mutations in the human genome.
著者:: Christopher C Kyriazis, 等
出版事項: (2024-09-01)

Strategies for autism candidate gene analysis.
著者:: Barnby, G, 等
出版事項: (2003)

Strategies for autism candidate gene analysis
著者:: Barnby, G, 等
出版事項: (2003)

Sorted gene genealogies and species-specific nonsynonymous substitutions point to putative postmating prezygotic isolation genes in Allonemobius crickets
著者:: Suegene Noh, 等
出版事項: (2016-02-01)

Comprehensive in silico characterization of nonsynonymous SNPs in the human ezrin (EZR) gene and their role in disease pathogenesis
著者:: Sadia Akter, 等
出版事項: (2025-06-01)

Characterization of gene expression profiles of esophageal cancer patients with different nonsynonymous tumor mutation burden
著者:: Jiawei Li, 等
出版事項: (2020-08-01)

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
著者:: Huajin Li, 等
出版事項: (2022-03-01)

Exploring the Structural and Functional Effects of Nonsynonymous SNPs in the Human Serotonin Transporter Gene Through Approaches
著者:: Md Arzo Mia, 等
出版事項: (2022-06-01)

Whole-genome resequencing shows numerous genes with nonsynonymous SNPs in the Japanese native cattle <it>Kuchinoshima-Ushi</it>
著者:: Yajima Shunsuke, 等
出版事項: (2011-02-01)

Functional relevance of nonsynonymous mutations in the HIV-1 <it>tat </it>gene within an epidemiologically-linked transmission cohort
著者:: Saksena Nitin K, 等
出版事項: (2007-10-01)

The investigation of nonsynonymous SNPs of human SLC6A4 gene associated with depression: An in silico approach
著者:: Md. Amit Hasan, 等
出版事項: (2021-08-01)

Two-stage candidate gene study of chromosome 3p demonstrates an association between nonsynonymous variants in the MST1R gene and Crohn's disease.
著者:: Beckly, J, 等
出版事項: (2008)

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis
著者:: Khyber Shinwari, 等
出版事項: (2021-01-01)

A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene
著者:: Mehr Ali Mahmood Janlou
出版事項: (2025-01-01)

Exploring the impact of deleterious missense nonsynonymous single nucleotide polymorphisms in the DRD4 gene using computational approaches
著者:: Dipto Kumer Sarker, 等
出版事項: (2025-01-01)

Computational and structural based approach to identify malignant nonsynonymous single nucleotide polymorphisms associated with CDK4 gene.
著者:: Rahatul Islam, 等
出版事項: (2021-01-01)

Nonsynonymous, synonymous and nonsense mutations in human cancer-related genes undergo stronger purifying selections than expectation
著者:: Duan Chu, 等
出版事項: (2019-04-01)