Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
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Corneal dystrophiesThe UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymesUbiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesisThe IC3D classification of the corneal dystrophiesCharacteristics of corneal dystrophies: a review from clinical, histological and genetic perspectivesStructural Insights into Ubiquinone Biosynthesis in MembranesStructure of a membrane-embedded prenyltransferase homologous to UBIAD1UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophyGene therapy in the cornea: 2005--present.UBIAD1-mediated vitamin K2 synthesis is required for vascular endothelial cell survival and development.Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis)Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data.A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.Methods for Structural and Functional Analyses of Intramembrane Prenyltransferases in the UbiA Superfamily.The bladder tumor suppressor protein TERE1 (UBIAD1) modulates cell cholesterol: implications for tumor progression.A novel Golgi retention signal RPWS for tumor suppressor UBIAD1.The prenyltransferase UBIAD1 is the target of geranylgeraniol in degradation of HMG CoA reductaseA mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophyRole of UBIAD1 in Intracellular Cholesterol Metabolism and Vascular Cell Calcification.Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.Bringing Bioactive Compounds into Membranes: The UbiA Superfamily of Intramembrane Aromatic Prenyltransferases.Geranylgeranyl-regulated transport of the prenyltransferase UBIAD1 between membranes of the ER and GolgiIdentification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.The tumor suppressor TERE1 (UBIAD1) prenyltransferase regulates the elevated cholesterol phenotype in castration resistant prostate cancer by controlling a program of ligand dependent SXR target genes.Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.Vitamin K metabolism: current knowledge and future research.The TERE1 protein interacts with mitochondrial TBL2: regulation of trans-membrane potential, ROS/RNS and SXR target genes.Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).Down-regulation of TERE1/UBIAD1 activated Ras-MAPK signalling and induced cell proliferation.Vitamin K2 is a mitochondrial electron carrier that rescues pink1 deficiency.UbiA prenyltransferase domain-containing protein-1 modulates HMG-CoA reductase degradation to coordinate synthesis of sterol and nonsterol isoprenoids.Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 geneClinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants
P2860
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P2860
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutations in the UBIAD1 gene o ...... crystalline corneal dystrophy.
@ast
Mutations in the UBIAD1 gene o ...... crystalline corneal dystrophy.
@en
type
label
Mutations in the UBIAD1 gene o ...... crystalline corneal dystrophy.
@ast
Mutations in the UBIAD1 gene o ...... crystalline corneal dystrophy.
@en
prefLabel
Mutations in the UBIAD1 gene o ...... crystalline corneal dystrophy.
@ast
Mutations in the UBIAD1 gene o ...... crystalline corneal dystrophy.
@en
P2093
P356
P1476
Mutations in the UBIAD1 gene o ...... crystalline corneal dystrophy.
@en
P2093
Elke Denninger
Howard S Kruth
Jayne S Weiss
Matthias Krause
Michael L Nickerson
Neil Ebenezer
Paul Wasson
Peter S White
R Scott Winters
Sunil Mahurkar
P304
P356
10.1167/IOVS.07-0845
P407
P577
2007-11-01T00:00:00Z