ArticleMolecular vision2011
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- UBIAD1 protects against oxygen-glucose deprivation/reoxygenation injury via nNOS/NO pathway.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- Synthesis, function, and regulation of sterol and nonsterol isoprenoids.Frontiers in molecular biosciences · 2022Review
- Case report: A case of corneal deposits between binocular descemet membrane and corneal endothelial layer after small-incision lenticule extraction (SMILE) followed by HPV vaccine.Frontiers in medicine · 2022Article
- Functional study of SCCD pathogenic geneMolecular medicine reports · 2021Article
- Multimodal Imaging Features of Schnyder Corneal Dystrophy.Journal of ophthalmology · 2020Article
- Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.BMC ophthalmology · 2018Article
- Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.Journal of ophthalmology · 2016Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the molecular defect in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene in a four-generation Chinese family with Schnyder corneal dystrophy (SCD).
methodsA four-generation Chinese family with SCD and 50 unrelated normal individuals as controls were enrolled in. The complete ophthalmic examination was performed and blood samples were taken for subsequent genetic analysis. Mutation screening of UBIAD1 was performed by polymerase chain reaction (PCR) based DNA sequencing.
resultsThe missense mutation N102S in UBIAD1 was identified in this pedigree from the mainland of China for the first time. The molecular defect cosegregates with the affected individuals, whereas not found in unaffected family members or normal controls.
conclusionsThe nonsynonymous mutation, N102S, in UBIAD1 detected in this family confirms that it is a mutation hot spot not only in Caucasian but also in Chinese. This finding adds support to the proposal that N102S has been independently mutated and argues against the likelihood of a founder effect.
Indexed as
Identifiers
22065921PMC3209473W1486585787What OpenQuestion holds
Registered trials
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