Publications:

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Genetic Spectrum of Inherited Neuropathies in India.

Annals Of Indian Academy Of Neurology

Sharma, Shivani S; Govindaraj, Periyasamy P; Chickabasaviah, Yasha T YT; Siram, Ramesh R; Shroti, Akhilesh A; Seshagiri, Doniparthi V DV; Debnath, Monojit M; Bindu, Parayil S PS; Taly, Arun B AB; Nagappa, Madhu M

Publication Date: 2022

Variant appearance in text: GJB1: C53S

PubMed Link: 35936615

Variant Present in the following documents:

• AIAN-25-407.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: C53S

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

View BVdb publication page

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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: C53S

PubMed Link: 27228968

Variant Present in the following documents:

• Main text
• 12860_2016_Article_92.pdf

View BVdb publication page

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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: C53S

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: C53S

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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Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Drew, Alexander P AP; Zhu, Danqing D; Kidambi, Aditi A; Ly, Carolyn C; Tey, Shelisa S; Brewer, Megan H MH; Ahmad-Annuar, Azlina A; Nicholson, Garth A GA; Kennerson, Marina L ML

Publication Date: 2015-03

Variant appearance in text: GJB1: C53S

PubMed Link: 25802885

Variant Present in the following documents:

• mgg30003-0143.pdf

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CamKII inhibitors reduce mitotic instability, connexon anomalies and progression of the in vivo behavioral phenotype in transgenic animals expressing a mutated Gjb1 gene.

Frontiers In Neuroscience

Mones, Saleh S; Bordignon, Benoit B; Peiretti, Franck F; Landrier, Jean F JF; Gess, Burkhardt B; Bourguignon, Jean J JJ; Bihel, Frédéric F; Fontés, Michel M

Publication Date: 2014

Variant appearance in text: GJB1: C53S

PubMed Link: 24982612

Variant Present in the following documents:

• fnins-08-00151.pdf

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