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: 283G>A; Val95Met

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: V95M

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Systematic review of CMTX1 patients with episodic neurological dysfunction.

Annals Of Clinical And Translational Neurology

Tian, Dandan D; Zhao, Yating Y; Zhu, Ruixia R; Li, Qu Q; Liu, Xu X

Publication Date: 2021-01

Variant appearance in text: CMTX1: Val95Met

PubMed Link: 33314704

Variant Present in the following documents:

• Main text
• ACN3-8-213.pdf

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Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Frontiers In Neurology

Liu, Xiaoxuan X; Duan, Xiaohui X; Zhang, Yingshuang Y; Sun, Aping A; Fan, Dongsheng D

Publication Date: 2020

Variant appearance in text: CMTX1: V95M

PubMed Link: 32903794

Variant Present in the following documents:

• Main text
• fneur-11-00690.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: GJB1: 283G>A; Val95Met

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: V95M

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.

Medicine

Kim, Jin Kyu JK; Han, Seung-A SA; Kim, Sun Jun SJ

Publication Date: 2017-12

Variant appearance in text: GJB1: 283G>A

PubMed Link: 29245364

Variant Present in the following documents:

• Main text
• medi-96-e9176.pdf

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Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology

García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD

Publication Date: 2016-05-24

Variant appearance in text: CMTX: V95M

PubMed Link: 27228968

Variant Present in the following documents:

• Main text

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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: 283G>A

PubMed Link: 27098783

Variant Present in the following documents:

• CMJ-129-1011.pdf

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Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing.

Molecules And Cells

Nam, Soo Hyun SH; Hong, Young Bin YB; Hyun, Young Se YS; Nam, Da Eun da E; Kwak, Geon G; Hwang, Sun Hee SH; Choi, Byung-Ok BO; Chung, Ki Wha KW

Publication Date: 2016-05-31

Variant appearance in text: GJB1: 283G>A

PubMed Link: 27025386

Variant Present in the following documents:

• Main text
• molce-39-5-382.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: V95M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: V95M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Multiplex detection and genotyping of point mutations involved in charcot-marie-tooth disease using a hairpin microarray-based assay.

Research Letters In Biochemistry

Baaj, Yasser Y; Magdelaine, Corinne C; Ubertelli, Virginie V; Valat, Christophe C; Mousseau, Yoanne Y; Qiu, Hao H; Funalot, Benoît B; Vallat, Jean-Michel JM; Sturtz, Franck G FG

Publication Date: 2009

Variant appearance in text: GJB1: V95M

PubMed Link: 22820753

Variant Present in the following documents:

• Main text
• BCRI2009-960560.pdf

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Annals Of Neurology

Montenegro, Gladys G; Powell, Eric E; Huang, Jia J; Speziani, Fiorella F; Edwards, Yvonne J K YJ; Beecham, Gary G; Hulme, William W; Siskind, Carly C; Vance, Jeffery J; Shy, Michael M; Züchner, Stephan S

Publication Date: 2011-03

Variant appearance in text: GJB1: 283G>A; VAL95MET

PubMed Link: 21254193

Variant Present in the following documents:

• Main text

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Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Brain Research

Hoang Dinh, Emilie E; Ahmad, Shoeb S; Chang, Qing Q; Tang, Wenxue W; Stong, Benjamin B; Lin, Xi X

Publication Date: 2009-06-24

Variant appearance in text: GJB1: V95M

PubMed Link: 19230829

Variant Present in the following documents:

• Main text

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A fully atomistic model of the Cx32 connexon.

Plos One

Pantano, Sergio S; Zonta, Francesco F; Mammano, Fabio F

Publication Date: 2008-07-02

Variant appearance in text: CMTX: V95M

PubMed Link: 18648547

Variant Present in the following documents:

• Main text
• pone.0002614.pdf

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