Associated Papers
Analysis of mouse lens morphological and proteomic abnormalities following deletion of the βB3-crystallin promoter.
Rayêe D et al.
Experimental Eye Research, 2025
Analysis of mouse lens morphological and proteomic abnormalities following depletion of βB3-crystallin.
Rayêe D et al.
Biorxiv : the Preprint Server for Biology, 2024
Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases.
Wang Y et al.
Frontiers in Genetics, 2024
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.
Zin OA et al.
Genes, 2021
34356085 (PubMed )
Supplement: genes-12-01069-s001.zip › genes-1253197-supplementary.pdf
Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing
Taylan Şekeroğlu H et al.
Turkish Journal of Ophthalmology, 2021
Molecular Etiology of Isolated Congenital Cataract Using Next-Generation Sequencing: Single Center Exome Sequencing Data from Turkey.
Taylan Sekeroglu H et al.
Molecular Syndromology, 2020
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.
Ma AS et al.
Human Mutation, 2016
A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.
Jiao X et al.
Plos One, 2016
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis LM et al.
Human Genetics, 2013
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L et al.
Investigative Ophthalmology & Visual Science, 2009
Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.
Andley UP
Expert Reviews in Molecular Medicine, 2006
Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.
Riazuddin SA et al.
Investigative Ophthalmology & Visual Science, 2005
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
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