Connexin mutants and cataracts

EC Beyer, L Ebihara, VM Berthoud - Frontiers in pharmacology, 2013 - frontiersin.org
The lens is a multicellular, but avascular tissue that must stay transparent to allow normal
transmission of light and focusing of it on the retina. Damage to lens cells and/or proteins …

Focus on lens connexins

VM Berthoud, A Ngezahayo - BMC cell biology, 2017 - Springer
The lens is an avascular organ composed of an anterior epithelial cell layer and fiber cells
that form the bulk of the organ. The lens expresses connexin43 (Cx43), connexin46 (Cx46) …

[HTML][HTML] Gap junction structure: Unraveled, but not fully revealed

EC Beyer, VM Berthoud - F1000Research, 2017 - ncbi.nlm.nih.gov
Gap junction channels facilitate the intercellular exchange of ions and small molecules, a
process that is critical for the function of many different kinds of cells and tissues. Recent …

Structural analysis of key gap junction domains—Lessons from genome data and disease-linked mutants

D Bai - Seminars in cell & developmental biology, 2016 - Elsevier
A gap junction (GJ) channel is formed by docking of two GJ hemichannels and each of these
hemichannels is a hexamer of connexins. All connexin genes have been identified in …

Motifs in the permeation pathway of connexin channels mediate voltage and Ca2+ sensing

AL Harris, JE Contreras - Frontiers in physiology, 2014 - frontiersin.org
Connexin channels mediate electrical coupling, intercellular molecular signaling, and
extracellular release of signaling molecules. Connexin proteins assemble intracellularly as …

[HTML][HTML] The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels

P Schadzek, B Schlingmann, F Schaarschmidt… - … et Biophysica Acta (BBA …, 2016 - Elsevier
The mutation N188T in human connexin46 (hCx46) correlates with a congenital nuclear
pulverulent cataract. This mutation is in the second extracellular loop, a domain involved in …

Properties of two cataract-associated mutations located in the NH2 terminus of connexin 46

JJ Tong, BCH Sohn, A Lam… - … of Physiology-Cell …, 2013 - journals.physiology.org
Mutations in connexin 46 are associated with congenital cataracts. The purpose of this
project was to characterize cellular and functional properties of two congenital cataract …

Connexin expression patterns in diseased human corneas

J Zhai, QIN Wang, L Tao - … and therapeutic medicine, 2014 - spandidos-publications.com
The present study aimed to explore the feasibility of using antisense connexin (Cx) treatment
to promote corneal wound healing, and to investigate the changes of Cx gap junction …

Analysis of connexin 43, connexin 45 and N-cadherin in the human sertoli cell line FS1 and the human seminoma-like cell line TCam-2 in comparison with human …

B Schulz, V Schumacher, A Ngezahayo… - BMC cancer, 2023 - Springer
Background Germ cell tumors are relatively common in young men. They derive from a non-
invasive precursor, called germ cell neoplasia in situ, but the exact pathogenesis is still …

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Y Yao, X Zheng, X Ge, Y Xiu, L Zhang, W Fang… - PLoS …, 2017 - journals.plos.org
Autosomal dominant congenital cataract (ADCC) is a clinically and genetically
heterogeneous ocular disease in children that results in serious visual impairments or even …