Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.

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Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Clinical Characteristics of Wo ...... l Frameshift Mutation in WFS1.

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Clinical Characteristics of Wo ...... l Frameshift Mutation in WFS1.

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label

Clinical Characteristics of Wo ...... l Frameshift Mutation in WFS1.

@en

Clinical Characteristics of Wo ...... l Frameshift Mutation in WFS1.

@nl

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Clinical Characteristics of Wo ...... l Frameshift Mutation in WFS1.

@en

Clinical Characteristics of Wo ...... l Frameshift Mutation in WFS1.

@nl

P1476

Clinical Characteristics of Wo ...... l Frameshift Mutation in WFS1.

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An-Li Tong

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Feng Gu

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Jiang-Feng Mao

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Lian Duan

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Miao Yu

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Qian Li

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Tao Yuan

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Xiao-Feng Chai

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P2860

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

Wolfram Syndrome: Diagnosis, Management, and Treatment

Identification and characterization of wolframin, the product of the wolfram syndrome gene (WFS1), as a novel calmodulin-binding protein

Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion

Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice

Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

P304

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scholarly article

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10.3389/FENDO.2018.00018

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P478

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P577

2018-02-12T00:00:00Z

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P698

29483894

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P932

5816339

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