Publications:

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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: V35M

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

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Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances

Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF

Publication Date: 2020

Variant appearance in text: GJB1: V35M

PubMed Link: 32904945

Variant Present in the following documents:

• vdaa088_suppl_supplementary_tables.xlsx, sheet 3

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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: GJB1: V35M

PubMed Link: 32903794

Variant Present in the following documents:

• Main text
• fneur-11-00690.pdf

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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: V35M

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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A structural and functional comparison of gap junction channels composed of connexins and innexins.

Developmental Neurobiology

Skerrett, I Martha IM; Williams, Jamal B JB

Publication Date: 2017-05

Variant appearance in text: CMTX: V35M

PubMed Link: 27582044

Variant Present in the following documents:

• Main text
• DNEU-77-522.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: V35M

PubMed Link: 27228968

Variant Present in the following documents:

• Main text
• 12860_2016_Article_92.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: V35M

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: V35M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Tryptophan Scanning Reveals Dense Packing of Connexin Transmembrane Domains in Gap Junction Channels Composed of Connexin32.

The Journal Of Biological Chemistry

Brennan, Matthew J MJ; Karcz, Jennifer J; Vaughn, Nicholas R NR; Woolwine-Cunningham, Yvonne Y; DePriest, Adam D AD; Escalona, Yerko Y; Perez-Acle, Tomas T; Skerrett, I Martha IM

Publication Date: 2015-07-10

Variant appearance in text: CMTX: V35M

PubMed Link: 25969535

Variant Present in the following documents:

• Main text

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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: V35M

PubMed Link: 21871435

Variant Present in the following documents:

• Main text

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Site-directed mutagenesis reveals putative regions of protein interaction within the transmembrane domains of connexins.

Cell Communication & Adhesion

Toloue, M M MM; Woolwine, Y Y; Karcz, J A JA; Kasperek, E M EM; Nicholson, B J BJ; Skerrett, I M IM

Publication Date: 2008-05

Variant appearance in text: CMTX: V35M

PubMed Link: 18649182

Variant Present in the following documents:

• Main text

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