Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals-Reference-Cited by-同舟云学术

Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals

Published:2018-07-16 Issue:10 Volume:61 Page:2180-2188
ISSN:0012-186X
Container-title:Diabetologia
language:en
Short-container-title:Diabetologia

Author:

Bansal Vikas,Boehm Bernhard O.,Darvasi Ariel

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

http://link.springer.com/article/10.1007/s00125-018-4690-3/fulltext.html

Reference41 articles.

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2. Inoue H, Tanizawa Y, Wasson J et al (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20:143–148

3. Fonseca SG, Fukuma M, Lipson KL et al (2005) WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic β-cells. J Biol Chem 280:39609–39615

4. Young TL, Ives E, Lynch E et al (2001) Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 10:2509–2514

5. Bespalova IN, Van Camp G, Bom SJ et al (2001) Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 10:2501–2508

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