[HTML][HTML] Connexin mutations and hereditary diseases

Y Qiu, J Zheng, S Chen, Y Sun - International Journal of Molecular …, 2022 - mdpi.com
Inherited diseases caused by connexin mutations are found in multiple organs and include
hereditary deafness, congenital cataract, congenital heart diseases, hereditary skin …

[HTML][HTML] Connexin mutants compromise the lens circulation and cause cataracts through biomineralization

VM Berthoud, J Gao, PJ Minogue, O Jara… - International Journal of …, 2020 - mdpi.com
Gap junction-mediated intercellular communication facilitates the circulation of ions, small
molecules, and metabolites in the avascular eye lens. Mutants of the lens fiber cell gap …

[HTML][HTML] 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) …

Cell communication across gap junctions: a historical perspective and current developments

WH Evans - Biochemical Society Transactions, 2015 - portlandpress.com
Collaborative communication lies at the centre of multicellular life. Gap junctions (GJs) are
surface membrane structures that allow direct communication between cells. They were …

[HTML][HTML] Loss of fiber cell communication may contribute to the development of cataracts of many different etiologies

EC Beyer, RT Mathias, VM Berthoud - Frontiers in Physiology, 2022 - frontiersin.org
The lens is an avascular organ that is supported by an internal circulation of water and
solutes. This circulation is driven by ion pumps, channels and transporters in epithelial cells …

[HTML][HTML] Connexin gap junctions and hemichannels in modulating lens redox homeostasis and oxidative stress in cataractogenesis

Y Quan, Y Du, Y Tong, S Gu, JX Jiang - Antioxidants, 2021 - mdpi.com
The lens is continuously exposed to oxidative stress insults, such as ultraviolet radiation and
other oxidative factors, during the aging process. The lens possesses powerful oxidative …

[HTML][HTML] Mutations of CX46/CX50 and cataract development

Y Shi, X Li, J Yang - Frontiers in Molecular Biosciences, 2022 - frontiersin.org
Cataract is a common disease in the aging population. Gap junction has been considered a
central component in maintaining homeostasis for preventing cataract formation. Gap …

[HTML][HTML] Genome-wide estimates of runs of homozygosity, heterozygosity, and genetic load in two chinese indigenous goat breeds

G Li, J Tang, J Huang, Y Jiang, Y Fan, X Wang… - Frontiers in …, 2022 - frontiersin.org
Runs of homozygosity (ROH) and heterozygosity (ROHet) are windows into population
demographic history and adaptive evolution. Numerous studies have shown that deleterious …

Disruption of the lens circulation causes calcium accumulation and precipitates in connexin mutant mice

J Gao, PJ Minogue, EC Beyer… - … of Physiology-Cell …, 2018 - journals.physiology.org
The lens is an avascular organ whose function and survival depend on an internal
circulation system. Cx46fs380 mice model a human autosomal dominant cataract caused by …

[HTML][HTML] Connexin mutants cause cataracts through deposition of apatite

PJ Minogue, AJ Sommer, JC Williams Jr… - Frontiers in Cell and …, 2022 - frontiersin.org
Cataracts are lens opacities that are among the most common causes of blindness. It is
commonly believed that cataracts develop through the accumulation of damage to lens …