Publications:

Connexin Mutations and Hereditary Diseases.

International Journal Of Molecular Sciences

Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y

Publication Date: 2022-04-12

Variant appearance in text: GJB1: Val84Leu

PubMed Link: 35457072

Variant Present in the following documents:

• Main text
• ijms-23-04255.pdf

View BVdb publication page

Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?

International Journal Of Molecular Sciences

Peracchia, Camillo C

Publication Date: 2021-08-25

Variant appearance in text: CMTX1: V84L

PubMed Link: 34502077

Variant Present in the following documents:

• Main text

View BVdb publication page

Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.

Biophysical Journal

Ambrosi, Cinzia C; Boassa, Daniela D; Pranskevich, Jennifer J; Smock, Amy A; Oshima, Atsunori A; Xu, Ji J; Nicholson, Bruce J BJ; Sosinsky, Gina E GE

Publication Date: 2010-05-19

Variant appearance in text: CMTX: V84L

PubMed Link: 20441744

Variant Present in the following documents:

• Main text

View BVdb publication page

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: V84L

PubMed Link: 19230829

Variant Present in the following documents:

• Main text

View BVdb publication page