Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.
作者信息
Osborne L R, Soder S, Shi X M, Pober B, Costa T, Scherer S W, Tsui L C
出版信息
Am J Hum Genet. 1997 Aug;61(2):449-52. doi: 10.1086/514850.
Abstract
摘要
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本文引用的文献
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A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23.
Hum Mol Genet. 1997 Mar;6(3):465-72. doi: 10.1093/hmg/6.3.465.
2
Novel isoform of syntaxin 1 is expressed in mammalian cells.syntaxin 1的新型异构体在哺乳动物细胞中表达。
Biochem J. 1997 Jan 1;321 ( Pt 1)(Pt 1):151-6. doi: 10.1042/bj3210151.
3
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.在威廉姆斯综合征患者中通常缺失的7q11.23区域500千碱基范围内的基因鉴定。
Genomics. 1996 Sep 1;36(2):328-36. doi: 10.1006/geno.1996.0469.
4
Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25.脑钙通道α1A亚基与突触前蛋白 syntaxin 和 SNAP-25 的亚型特异性相互作用。
Proc Natl Acad Sci U S A. 1996 Jul 9;93(14):7363-8. doi: 10.1073/pnas.93.14.7363.
5
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.LIM激酶1半合子不足与视觉空间建构认知受损有关。
Cell. 1996 Jul 12;86(1):59-69. doi: 10.1016/s0092-8674(00)80077-x.
6
LIM-kinase deleted in Williams syndrome.威廉姆斯综合征中缺失的LIM激酶。
Nat Genet. 1996 Jul;13(3):272-3. doi: 10.1038/ng0796-272.
7
The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.复制因子C亚基2（RFC2）基因位于7q11.23威廉姆斯综合征缺失区域内。
Am J Hum Genet. 1996 Jun;58(6):1370-3.
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Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation.运动亢进的小鼠模型表明SNAP-25参与行为调节。
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Calcium-dependent interaction of N-type calcium channels with the synaptic core complex.N型钙通道与突触核心复合体的钙依赖性相互作用。
Nature. 1996 Feb 1;379(6564):451-4. doi: 10.1038/379451a0.
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Williams syndrome: autosomal dominant inheritance.威廉姆斯综合征：常染色体显性遗传。
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