Publications:

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Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.

Frontiers In Neuroscience

Chu, Fan F; Xu, Jiaming J; Wang, Yong Y; Li, Yingjie Y; Wang, Yaling Y; Liu, Zhijun Z; Li, Chuanzhou C

Publication Date: 2022

Variant appearance in text: GJB1: 212T>G

PubMed Link: 36225735

Variant Present in the following documents:

• fnins-16-972288.pdf

View BVdb publication page

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GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.

Case Reports In Neurology

Kovale, Sabine S; Terauda, Ruta R; Millere, Elina E; Taurina, Gita G; Murmane, Daiga D; Isakova, Jekaterina J; Kenina, Viktorija V; Gailite, Linda L

Publication Date: 2021

Variant appearance in text: GJB1: 212T>G

PubMed Link: 34326750

Variant Present in the following documents:

• crn-0013-0422.pdf

View BVdb publication page

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New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: I71S

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Chinese Medical Journal

Lu, Yuan-Yuan YY; Lyu, He H; Jin, Su-Qin SQ; Zuo, Yue-Huan YH; Liu, Jing J; Wang, Zhao-Xia ZX; Zhang, Wei W; Yuan, Yun Y

Publication Date: 2017-05-05

Variant appearance in text: GJB1: 212T>G

PubMed Link: 28469099

Variant Present in the following documents:

• CMJ-130-1049.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: GJB1: I71S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

Chinese Medical Journal

Sun, Bo B; Chen, Zhao-Hui ZH; Ling, Li L; Li, Yi-Fan YF; Liu, Li-Zhi LZ; Yang, Fei F; Huang, Xu-Sheng XS

Publication Date: 2016-05-05

Variant appearance in text: GJB1: I71S

PubMed Link: 27098783

Variant Present in the following documents:

• CMJ-129-1011.pdf

View BVdb publication page

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