Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]
, 2003 Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Abitbol, M. +11 more
core +4 more sources
PLoS ONE, 2014 Relationships between αB-crystallin expression patterns and pathological changes of myocardial cells after heat stress were examined in vitro and in vivo in this study using the H9C2 cell line and Sprague-Dawley rats, respectively.
Shu Tang +6 more
doaj +3 more sources
Phase separation of α-crystallin-GFP protein and its implication in cataract disease
Scientific Reports, 2023 Cataract, the leading cause of blindness worldwide, is caused by crystallin protein aggregation within the protected lens environment. Phase separation has been implicated as an important mechanism of protein aggregation diseases, such as ...
Jie Shi +7 more
doaj +1 more source
Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia
Frontiers in Genetics, 2022 Background: Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department.
Yu Peng +7 more
doaj +1 more source
Recombination and identification of human alpha B-crystallin [PDF]
International Journal of Ophthalmology, 2018 AIM: To recombine the human alpha B-crystallin (αB-crystallin) using gene cloning technology and prokaryotic expression vector and confirm the biological activity of recombinant human αB-crystallin.
Rui Wang +5 more
doaj +1 more source
Alpha B-Crystallin Protects Rat Articular Chondrocytes against Casein Kinase II Inhibition-Induced Apoptosis. [PDF]
PLoS ONE, 2016 Although alpha (α)B-crystallin is expressed in articular chondrocytes, little is known about its role in these cells. Protein kinase casein kinase 2 (CK2) inhibition induces articular chondrocyte death.
Sung Won Lee +6 more
doaj +1 more source
Multiple sites in αB-crystallin modulate its interactions with desmin filaments assembled in vitro. [PDF]
PLoS ONE, 2011 The β3- and β8-strands and C-terminal residues 155-165 of αB-crystallin were identified by pin arrays as interaction sites for various client proteins including the intermediate filament protein desmin.
Scott A Houck +3 more
doaj +1 more source
Structural and Functional Peculiarities of α-Crystallin
Biology, 2020 α-Crystallin is the major protein of the eye lens and a member of the family of small heat-shock proteins. Its concentration in the human eye lens is extremely high (about 450 mg/mL). Three-dimensional structure of native α-crystallin is unknown.
Olga M. Selivanova, Oxana V. Galzitskaya
doaj +1 more source
αB crystallin is apically secreted within exosomes by polarized human retinal pigment epithelium and provides neuroprotection to adjacent cells. [PDF]
PLoS ONE, 2010 αB crystallin is a chaperone protein with anti-apoptotic and anti-inflammatory functions and has been identified as a biomarker in age-related macular degeneration. The purpose of this study was to determine whether αB crystallin is secreted from retinal
Parameswaran G Sreekumar +6 more
doaj +1 more source
Regulation of mouse small heat shock protein αb-crystallin gene by aryl hydrocarbon receptor. [PDF]
PLoS ONE, 2011 The stress-inducible small heat shock protein (shsp)/αB-crystallin gene is expressed highly in the lens and moderately in other tissues. Here we provide evidence that it is a target gene of the aryl hydrocarbon receptor (AhR) transcription factor.
Shuang Liu, Joram Piatigorsky
doaj +1 more source