Associated Papers
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1
Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
Jiang SY et al.
Plos Genetics, 2019
A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
Dong F et al.
Scientific Reports, 2018
Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.
Lin BR et al.
Journal of Ophthalmology, 2016
The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
Nickerson ML et al.
Human Mutation, 2013
[Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy].
Tao SY et al.
Zhonghua Yi Xue Za Zhi, 2012
Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).
Al-Ghadeer H et al.
Middle East African Journal of Ophthalmology, 2011
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
Du C et al.
Molecular Vision, 2011
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
Jing Y et al.
Molecular Vision, 2009
Select a paper to view details