SLC24A5基因突变与非综合征性眼皮肤白化病相关。 - Suppr

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

作者信息

Morice-Picard Fanny, Lasseaux Eulalie, François Stéphane, Simon Delphine, Rooryck Caroline, Bieth Eric, Colin Estelle, Bonneau Dominique, Journel Hubert, Walraedt Sophie, Leroy Bart P, Meire Francoise, Lacombe Didier, Arveiler Benoit

机构信息

Maladies Rares: Génétique et Métabolisme (MRGM), University Bordeaux, Bordeaux, France; Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

Service de Génétique Médicale, CHU de Bordeaux, Bordeaux, France.

出版信息

J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28.

DOI:10.1038/jid.2013.360

PMID:23985994

Abstract

摘要

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SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.SLC24A5基因突变与非综合征性眼皮肤白化病相关。

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Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism.c10orf11 基因中的突变导致常染色体隐性白化病。

Am J Hum Genet. 2013 Mar 7;92(3):415-21. doi: 10.1016/j.ajhg.2013.01.006. Epub 2013 Feb 7.

Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.外显子组测序鉴定 SLC24A5 为非综合征性眼皮肤白化病的候选基因。

J Invest Dermatol. 2013 Jul;133(7):1834-40. doi: 10.1038/jid.2013.49. Epub 2013 Jan 30.

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.Hermansky-Pudlak 综合征：色素和非色素缺陷及其发病机制。

Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi: 10.1111/pcmr.12051. Epub 2012 Dec 31.

OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24.OCA5是一种非综合征性眼皮肤白化病的新位点，定位于4号染色体4q24。

Clin Genet. 2013 Jul;84(1):91-3. doi: 10.1111/cge.12019. Epub 2012 Oct 10.

Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings.印度白化病的分子基础：七个潜在候选基因的评估及一些新发现。

Gene. 2012 Dec 15;511(2):470-4. doi: 10.1016/j.gene.2012.09.012. Epub 2012 Sep 23.

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.丹麦常染色体隐性白化病患者的出生患病率及突变谱

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1058-64. doi: 10.1167/iovs.08-2639. Epub 2008 Dec 5.

Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.对非西班牙裔白种人中眼皮肤白化病的综合分析表明，OCA1是最常见的眼皮肤白化病类型。

J Invest Dermatol. 2008 Oct;128(10):2442-50. doi: 10.1038/jid.2008.109. Epub 2008 May 8.

Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.Slc24a5基因敲除小鼠的眼部白化病和色素减退缺陷

Vet Pathol. 2008 Mar;45(2):264-79. doi: 10.1354/vp.45-2-264.

SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.SLC24A5编码一种具有钾依赖性钠钙交换活性的反式高尔基体网络蛋白，该蛋白可调节人类表皮黑色素生成。

J Biol Chem. 2008 Feb 29;283(9):5486-95. doi: 10.1074/jbc.M707521200. Epub 2007 Dec 28.

A genomewide association study of skin pigmentation in a South Asian population.一项针对南亚人群皮肤色素沉着的全基因组关联研究。

Am J Hum Genet. 2007 Dec;81(6):1119-32. doi: 10.1086/522235. Epub 2007 Oct 15.

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SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

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