Lens gap junctions in growth, differentiation, and homeostasis

RT Mathias, TW White, X Gong - Physiological reviews, 2010 - journals.physiology.org
The cells of most mammalian organs are connected by groups of cell-to-cell channels called
gap junctions. Gap junction channels are made from the connexin (Cx) family of proteins …

[HTML][HTML] The ether lipid-deficient mouse: tracking down plasmalogen functions

K Gorgas, A Teigler, D Komljenovic, WW Just - Biochimica et Biophysica …, 2006 - Elsevier
Chemical and physico-chemical properties as well as physiological functions of major
mammalian ether-linked glycerolipids, including plasmalogens were reviewed. Their …

Sporadic and familial congenital cataracts: Mutational spectrum and new diagnoses using next‐generation sequencing

AS Ma, JR Grigg, G Ho, I Prokudin… - Human …, 2016 - Wiley Online Library
Congenital cataracts are a significant cause of lifelong visual loss. They may be isolated or
associated with microcornea, microphthalmia, anterior segment dysgenesis (ASD) and …

EPHA2 Is Associated with Age-Related Cortical Cataract in Mice and Humans

G Jun, H Guo, BEK Klein, R Klein, JJ Wang… - PLoS …, 2009 - journals.plos.org
Age-related cataract is a major cause of blindness worldwide, and cortical cataract is the
second most prevalent type of age-related cataract. Although a significant fraction of age …

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 …

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) …

Structural function of MIP/aquaporin 0 in the eye lens; genetic defects lead to congenital inherited cataracts

AB Chepelinsky - Aquaporins, 2009 - Springer
Aquaporin 0 (AQP0) was originally characterized as a membrane intrinsic protein,
specifically expressed in the lens fibers of the ocular lens and designated MIP, for major …

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies

F Ceroni, D Aguilera-Garcia, N Chassaing, DA Bax… - Human genetics, 2019 - Springer
Abstract GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the
formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in …

Molecular genetics of congenital nuclear cataract

H Deng, L Yuan - European journal of medical genetics, 2014 - Elsevier
A cataract is defined as opacification of the normally transparent crystalline lens. Congenital
cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one …

Connexins in lens development and cataractogenesis

X Gong, C Cheng, C Xia - Journal of Membrane Biology, 2007 - Springer
The lens is an avascular organ that transmits and focuses light images onto the retina.
Intercellular gap junction channels, formed by at least three different connexin protein …