Publications:

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: GJB1: 614A>G; Asn205Ser

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 2
• pcbi.1010013.s002.xlsx, sheet 4

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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: N205S

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GJB1: 614A>G; Asn205Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Molecular Genetics & Genomic Medicine

Liu, Yingdi Y; Xue, Jinjie J; Li, Zhuo Z; Linpeng, Siyuan S; Tan, Hu H; Teng, Yanling Y; Liang, Desheng D; Wu, Lingqian L

Publication Date: 2020-03

Variant appearance in text: CMTX: Asn205Ser

PubMed Link: 31943912

Variant Present in the following documents:

• MGG3-8-e1127.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: GJB1: 614A>G; Asn205Ser

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience

Bortolozzi, Mario M

Publication Date: 2018

Variant appearance in text: GJB1: N205S

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GJB1: 614A>G; Asn205Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: 614A>G; N205S

PubMed Link: 28469099

Variant Present in the following documents:

• CMJ-130-1049.pdf

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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: N205S

PubMed Link: 27098783

Variant Present in the following documents:

• CMJ-129-1011.pdf

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Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1.

Case Reports In Neurology

Wu, Ning N; Said, Sarita S; Sabat, Shyamsunder S; Wicklund, Matthew M; Stahl, Mark C MC

Publication Date: 2015

Variant appearance in text: GJB1: Asn205Ser

PubMed Link: 26955336

Variant Present in the following documents:

• crn-0007-0247.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GJB1: N205S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GJB1: N205S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Gap junctions in inherited human disorders of the central nervous system.

Biochimica Et Biophysica Acta

Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2012-08

Variant appearance in text: GJB1: N205S

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

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Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.

Genome Medicine

Santarelli, Rosamaria R

Publication Date: 2010-12-22

Variant appearance in text: GJB1: Asn205Ser

PubMed Link: 21176122

Variant Present in the following documents:

• gm212.pdf

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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

European Journal Of Human Genetics : Ejhg

Miltenberger-Miltenyi, Gabriel G; Schwarzbraun, Thomas T; Löscher, Wolfgang N WN; Wanschitz, Julia J; Windpassinger, Christian C; Duba, Hans-Christoph HC; Seidl, Rainer R; Albrecht, Gerhard G; Weirich-Schwaiger, Helga H; Zoller, Heinz H; Utermann, Gerd G; Auer-Grumbach, Michaela M; Janecke, Andreas R AR

Publication Date: 2009-09

Variant appearance in text: CMTX: N205S

PubMed Link: 19259128

Variant Present in the following documents:

• Main text

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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

Bmc Neurology

Braathen, Geir J GJ; Sand, Jette C JC; Bukholm, Geir G; Russell, Michael B MB

Publication Date: 2007-07-09

Variant appearance in text: GJB1: Asn205Ser

PubMed Link: 17620124

Variant Present in the following documents:

• 1471-2377-7-19.pdf

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