Publications:

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: N14K

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.

The Journal Of General Physiology

García, Isaac E IE; Villanelo, Felipe F; Contreras, Gustavo F GF; Pupo, Amaury A; Pinto, Bernardo I BI; Contreras, Jorge E JE; Pérez-Acle, Tomás T; Alvarez, Osvaldo O; Latorre, Ramon R; Martínez, Agustín D AD; González, Carlos C

Publication Date: 2018-05-07

Variant appearance in text: GJB1: N14K

PubMed Link: 29643172

Variant Present in the following documents:

• Main text
• JGP_201711782.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: N14K

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: N14K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: N14K

PubMed Link: 19230829

Variant Present in the following documents:

• Main text

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