Inherited cataracts: Genetic mechanisms and pathways new and old
A Shiels, JF Hejtmancik - Experimental eye research, 2021 - Elsevier
Cataract (s) is the clinical equivalent of lens opacity and is caused by light scattering either
by high molecular weight protein aggregates in lens cells or disruption of the lens …
by high molecular weight protein aggregates in lens cells or disruption of the lens …
Inherited congenital cataract: a guide to suspect the genetic etiology in the cataract genesis
O Messina-Baas, SA Cuevas-Covarrubias - Molecular syndromology, 2017 - karger.com
Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital
cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form …
cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form …
Lens epithelial cells initiate an inflammatory response following cataract surgery
J Jiang, MH Shihan, Y Wang… - … ophthalmology & visual …, 2018 - iovs.arvojournals.org
Purpose: Lens epithelial cell (LEC) conversion to myofibroblast is responsible for fibrotic
cataract surgery complications including posterior capsular opacification. While transforming …
cataract surgery complications including posterior capsular opacification. While transforming …
[图书][B] Ocular pathology
M Yanoff, JW Sassani - 2018 - books.google.com
Bridge the gap between ophthalmology and pathology with the 8th Edition of this
comprehensive, easy-to-understand reference from Drs. Myron Yanoff and Joseph W …
comprehensive, easy-to-understand reference from Drs. Myron Yanoff and Joseph W …
Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and …
Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features:
18 genes causing syndromic neonatal diabetes have been identified to date. There are still …
18 genes causing syndromic neonatal diabetes have been identified to date. There are still …
Molecular genetics of cataract
A Shiels, JF Hejtmancik - Progress in molecular Biology and translational …, 2015 - Elsevier
Lens opacities or cataract (s) represent a universally important cause of visual impairment
and blindness. Typically, cataract is acquired with aging as a complex disorder involving …
and blindness. Typically, cataract is acquired with aging as a complex disorder involving …
Wolfram syndrome: MAMs' connection?
B Delprat, T Maurice, C Delettre - Cell death & disease, 2018 - nature.com
Wolfram syndrome (WS) is a rare neurodegenerative disease, the main pathological
hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms …
hallmarks of which associate with diabetes, optic atrophy, and deafness. Other symptoms …
Current landscape of treatments for Wolfram syndrome
Wolfram syndrome is a rare genetic spectrum disorder characterized by insulin-dependent
diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from …
diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration, and ranges from …
Uniting the divergent Wolfram syndrome–linked proteins WFS1 and CISD2 as modulators of Ca2+ signaling
J Loncke, T Vervliet, JB Parys, A Kaasik, G Bultynck - Science Signaling, 2021 - science.org
Mutations in WFS1 (which encodes Wolframin, WFS1) and CISD2 (which encodes CDGSH
iron sulfur domain 2) result in Wolfram syndrome (WS), a rare genetic disorder that starts …
iron sulfur domain 2) result in Wolfram syndrome (WS), a rare genetic disorder that starts …
Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish …
Aims/hypothesis Wolfram syndrome is a rare, autosomal recessive syndrome characterised
by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the …
by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the …