Results 31 to 40 of about 384,143 (185)
Study of congenital Morgagnian cataracts in Holstein calves.
PLoS ONE, 2019 Cataracts are focal to diffuse opacities of the eye lens causing impaired vision or complete blindness. For bilateral congenital cataracts in Red Holsteins a perfectly cosegregating mutation within the CPAMD8 gene (CPAMD8:g.5995966C>T) has been reported.
Marina Braun +9 more
doaj +1 more source
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene. [PDF]
PLoS ONE, 2014 PURPOSE: The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts.
Wenmin Sun +4 more
doaj +1 more source
Congenital cataract: An ocular manifestation of classical homocystinuria
Molecular Genetics & Genomic Medicine, 2021 Background Homocystinuria is an autosomal recessive metabolic disorder occurring due to the defects in cystathionine‐β‐synthase enzyme. The study was carried out to investigate a Pakistani family presenting bilateral congenital cataract with symptoms of ...
Neelam Saba, Saba Irshad
doaj +1 more source
Delta Journal of OphthalmologyAim The aim of this study was to describe the anterior chamber angle in congenital cataract cases by using a hand-held anterior segment optical coherence tomography (HH-ASOCT) and to compare it to normal age-matched controls.
Pola S. Soliman +5 more
doaj +1 more source
A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family
Indian Journal of Ophthalmology, 2016 Background: Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of ...
Juan Bu +5 more
doaj +1 more source
Journal of Ophthalmology, 2017 Purpose. To investigate the ocular features of children with congenital cataract in a tertiary referral eye center in East China. Methods. We retrospectively reviewed the clinical data of congenital cataract children who underwent cataract surgery ...
Wenwen He +6 more
doaj +1 more source
Advanced Science, EarlyView.GALK1 acts as a protein kinase beyond the phosphorylation of galactose. GALK1 phosphorylates TIMM13 at Y73 in the cytoplasm. This phosphorylation prevents premature oxidative folding of TIMM13 and ensures its entrance into the intermembrane space of mitochondrion, positively regulating mitochondrial respiration.
Chang Woo Ko +5 more
wiley +1 more source
Mutation screening of α-crystallin mutations in congenital cataract patients
Delhi Journal of Ophthalmology, 2011 Purpose: To screen α-crystallin (CRYAA) gene in congenital cataract patients and controls. Methods: Fifty clinically diagnosed congenital cataract cases below 3 years of age from northern India, presenting at Dr. R. P.
Manoj Kumar +3 more
doaj +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2023 Background Congenital cataract is a leading cause of treatable childhood blindness and both clinically and genetically heterogeneous. Among the already characterized phenotypes, coralliform cataract is a rare special form of congenital cataracts ...
Kai-Jie Wang +6 more
doaj +1 more source