ArticleMolecular vision2019
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Article in Molecular vision, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Physiological and pathological functions of βB2-crystallins in multiple organs: a systematic review.Aging · 2021Pooled it
- Plasma Proteomics Identifies Proteins and Pathways Associated with Cataract: A Prospective Cohort Study.Ophthalmology science · 2026Article
- Human Crystallin Variation and Cataract.Investigative ophthalmology & visual science · 2026Review
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.BMC medical genomics · 2025Article
- Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma.American journal of translational research · 2025Article
- A bibliometric and visualized analysis of the pathogenesis of cataracts from 1999 to 2023.Heliyon · 2024Article
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- Crystallin β-b2 promotes retinal ganglion cell protection in experimental autoimmune uveoretinitis.Frontiers in cellular neuroscience · 2024Article
- NovelInternational journal of molecular sciences · 2023Article
- Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Orphanet journal of rare diseases · 2023Article
- Article
- A Novel Mutation inOphthalmology science · 2022Article
- Article
- Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in theFrontiers in pediatrics · 2022Article
- Case Report: AFrontiers in genetics · 2022Article
- Whole-exome sequencing identification of a recurrentExperimental and therapeutic medicine · 2021Article
- Crystalline gene mutations in Turkish children with congenital cataracts.International ophthalmology · 2021Article
- Novel Mutation inGenes · 2021Article
- Cataract-causing allele in CRYAA (Y118D) proceeds through endoplasmic reticulum stress in mouse model.Zoological research · 2021Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To identify mutations in crystallin genes in Chinese families with congenital cataracts. Methods: Forty-two unrelated families with non-syndromic congenital cataracts were enrolled in this study. The coding exons and adjacent intronic regions of crystallin genes, including Results: Seven previously reported mutations in crystallin genes identified in ten unrelated families were associated with the congenital nuclear cataracts. Four novel mutations in crystallin genes, including c.35G>T (p.R12L) in Conclusions: In this study, we identified four novel mutations in crystallin genes in Chinese families with congenital cataracts. The results expand the mutational spectrum of crystallin genes, which may be helpful for the molecular diagnosis of congenital cataracts in the era of precision medicine.
Indexed as
Identifiers
31523120PMC6707615W2997477276What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.