Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization.

Suppr

超能文献

作者信息

Mignon C, Fromaget C, Mattei M G, Gros D, Yamasaki H, Mesnil M

机构信息

INSERM U. 406, Faculté de la Timone, Marseille.

出版信息

Cytogenet Cell Genet. 1996;72(2-3):185-6. doi: 10.1159/000134183.

DOI:10.1159/000134183

PMID:8978770

Abstract

摘要

相似文献

Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization.

Cytogenet Cell Genet. 1996;72(2-3):185-6. doi: 10.1159/000134183.

Physical mapping confirms that sheep chromosome 10 has extensive conserved synteny with cattle chromosome 12 and human chromosome 13.

Anim Genet. 1996 Aug;27(4):249-53. doi: 10.1111/j.1365-2052.1996.tb00486.x.

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).一个摩洛哥家庭患有常染色体隐性遗传性感觉神经性听力损失，该疾病由间隙连接蛋白基因连接蛋白26（GJB2）突变引起。

J Med Genet. 1998 Feb;35(2):151-2. doi: 10.1136/jmg.35.2.151.

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.DFNB1基因座中的一个新的大片段缺失导致非综合征性听力损失。

Eur J Med Genet. 2009 Jul-Aug;52(4):195-200. doi: 10.1016/j.ejmg.2008.11.006. Epub 2008 Dec 13.

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3).与13q11相关的常染色体显性先天性板层粉状白内障（CZP3）及连接蛋白46（GJA3）新突变的进一步证据。

Hum Genet. 2000 Feb;106(2):206-9. doi: 10.1007/s004390051029.

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.13号染色体长臂单亲二体导致编码连接蛋白26（GJB2）的基因中35delG突变纯合，在两名不相关的西班牙患者中导致语前听力障碍。

J Med Genet. 2003 Aug;40(8):636-9. doi: 10.1136/jmg.40.8.636.

DFNA3.DFNA3

Adv Otorhinolaryngol. 2000;56:78-83. doi: 10.1159/000059086.

Mapping of the DFNB1 locus.DFNB1基因座的定位

Adv Otorhinolaryngol. 2000;56:116-23. doi: 10.1159/000059090.

Physical mapping of connexin 32 (GJB1) and 43 (GJA1) genes to bovine chromosomes Xq22 and 9q15/16 by fluorescence in situ hybridization.

Mamm Genome. 1996 Aug;7(8):634-5. doi: 10.1007/s003359900192.

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.一个近亲家族中两种不同的连接蛋白26突变与非综合征性隐性耳聋的连锁关系：对隔离人群基因研究的启示

Hum Mol Genet. 1997 Nov;6(12):2163-72. doi: 10.1093/hmg/6.12.2163.

引用本文的文献

The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia.CLIC5基因中c.644 G > A p.(Trp215*)的奠基者变异导致西伯利亚东部出现常染色体隐性进行性耳聋103型（DFNB103）。

J Hum Genet. 2025 Sep 16. doi: 10.1038/s10038-025-01406-1.

Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26).GJB2 基因 c.-23+1G>A 剪接位点变异导致的 DFNB1A 型耳聋患者的听力功能表型-基因型分析（Cx26）。

PLoS One. 2024 Oct 22;19(10):e0309439. doi: 10.1371/journal.pone.0309439. eCollection 2024.

Role and Posttranslational Regulation of Cx46 Hemichannels and Gap Junction Channels in the Eye Lens.Cx46半通道和缝隙连接通道在眼晶状体中的作用及翻译后调控

Front Physiol. 2022 Mar 30;13:864948. doi: 10.3389/fphys.2022.864948. eCollection 2022.

Connexin46 mutations in autosomal dominant congenital cataract.常染色体显性遗传性先天性白内障中的连接蛋白46突变

Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383.

Mapping of new recessive cataract gene (lr2) in the mouse.小鼠中新的隐性白内障基因（lr2）的定位

Mamm Genome. 1997 Dec;8(12):927-31. doi: 10.1007/s003359900613.

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.位于13号染色体上的显性“小带粉状”白内障新基因座。

Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验