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Genome scans indicate a linkage of autism to the chromosome 7q21-q36 region. Recent studies suggest that the Reelin gene may be one of the loci contributing to the positive linkage between chromosome 7q and autism. However, these studies were relatively small scale, using a few markers in the gene. We investigated 34 single nucleotide polymorphisms (SNPs) in the Reelin gene with an average spacing between the SNPs of 15 kb for evidence of association with autism. There were significant differences in the transmission of the alleles of exon 22 and intron 59 SNP to autistic subjects. Our findings support a role for the Reelin gene in the susceptibility to autism. 相似文献
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I McIntosh S D Dreyer M V Clough J A Dunston W Eyaid C M Roig T Montgomery S Ala-Mello I Kaitila A Winterpacht B Zabel M Frydman W G Cole C A Francomano B Lee 《American journal of human genetics》1998,63(6):1651-1658
Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations. 相似文献
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Heat shock factor 1 is a transcription factor of Fas gene 总被引:1,自引:0,他引:1
E. Shunmei Yuanbo Zhao Yunhong Huang Kun Lai Cha Chen Jianming Zeng Jiangying Zou 《Molecules and cells》2010,29(5):527-531
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A novel DREB (dehydration responsive element binding protein) gene, designated BjDREB1B, was isolated from Brassica juncea L. BjDREB1B contains a conserved EREBP/AP2 domain and was classified into the A-1 subgroup of the DREB subfamily based on phylogenetic tree analysis. RT-PCR showed that BjDREB1B was induced by abiotic stresses and exogenous phytohormones, such as drought, salt, low temperature, heavy metals, abscisic acid, and salicylic acid. Gel shift assay revealed that BjDREB1B specifically bound to the DRE element in vitro. Yeast one-hybrid assay showed that full-length BjDREB1B or its C-terminal region functioned effectively as a trans-activator. Furthermore, overexpression of BjDREB1B in tobacco up-regulated the expression of NtERD10B, and BjDREB1B transgenic plants accumulated higher levels of proline than control plants under normal and saline conditions, together showing that BjDREB1B plays important roles in improving plant tolerance to drought and salinity. 相似文献
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Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus
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Benayed R Gharani N Rossman I Mancuso V Lazar G Kamdar S Bruse SE Tischfield S Smith BJ Zimmerman RA Dicicco-Bloom E Brzustowicz LM Millonig JH 《American journal of human genetics》2005,77(5):851-868
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