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PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 5, pp. e10760 - e10760
Background: Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is... 
PROTEIN STRUCTURES | CHOLESTEROL | GENE | METABOLISM | MEMBRANE | MULTIDISCIPLINARY SCIENCES | ESCHERICHIA-COLI | CRYSTALLINE DYSTROPHY | TOPOLOGY PREDICTION | BLADDER | TRANSFERASE | Mitochondria - enzymology | Demography | Cornea - enzymology | Humans | Corneal Dystrophies, Hereditary - enzymology | Corneal Dystrophies, Hereditary - genetics | Molecular Sequence Data | Corneal Dystrophies, Hereditary - pathology | Dimethylallyltranstransferase - genetics | Mitochondria - genetics | DNA Mutational Analysis | Base Sequence | Conserved Sequence | Cornea - pathology | Amino Acid Sequence | Models, Molecular | Linear Models | Mutant Proteins - metabolism | Cholesterol - metabolism | Mutation - genetics | Amino Acids | Protein Transport | Proteins - genetics | Mutant Proteins - chemistry | Family | Proteins - chemistry | Immunohistochemistry | Wildlife conservation | Metabolites | Analysis | Physiological aspects | Lipids | Eye diseases | Amino acids | Genetic aspects | Ophthalmology | Native Americans | Biotechnology | Cornea | Antibodies | Homology | Leukocytes (mononuclear) | Viruses | Biochemistry | Phospholipids | Urology | Genetic algorithms | Proteins | Mitochondria | Surgery | Peripheral blood mononuclear cells | Docking | Modelling | Lipid metabolism | Lesions | Localization | Age | Enzymes | Computer simulation | Lymphoblastoid cell lines | Inflammation | Metabolism | Phenolic compounds | Minority & ethnic groups | Substrates | Cholesterol | Membrane proteins | Medicine | Molecular modelling | Corneal dystrophy | Phenols | Mutation | Dystrophy | Position (location) | Protein structure | Binding sites | Cancer | Index Medicus
Journal Article
Journal of Ophthalmic and Vision Research, ISSN 2008-2010, 2014, Volume 9, Issue 2, pp. 269 - 271
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 09/2010, Volume 94, Issue 9, pp. 1262 - 1264
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2008, Volume 146A, Issue 3, pp. 271 - 283
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2016, Volume 2016, pp. 1968493 - 1968493
Purpose. To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD). Methods. A slit... 
MEDICINE, RESEARCH & EXPERIMENTAL | CHOLESTEROL | METABOLISM | SEQUENCE | OPHTHALMOLOGY | TOPOLOGY PREDICTION | CRYSTALLINE STROMAL DYSTROPHY | CHINESE FAMILY | PROTEINS | PRENYLTRANSFERASE | PROGRESSION | ACCURACY | Care and treatment | Gene mutations | Physiological aspects | Corneal diseases | Genetic aspects | Research | Diagnosis | Risk factors
Journal Article
SCIENCE, ISSN 0036-8075, 06/2012, Volume 336, Issue 6086, pp. 1306 - 1310
Human UBIAD1 localizes to mitochondria and converts vitamin K-1 to vitamin K-2. Vitamin K-2 is best known as a cofactor in blood coagulation, but in bacteria... 
MENAQUINONE-4 | MULTIDISCIPLINARY SCIENCES | SCHNYDER | UBIAD1 GENE | MUTATIONS | DYSFUNCTION | IDENTIFICATION | DROSOPHILA-PINK1 | CRYSTALLINE CORNEAL-DYSTROPHY | PARKINSONS-DISEASE
Journal Article
Cornea, ISSN 0277-3740, 04/2004, Volume 23, Issue 3, pp. 311 - 313
OBJECTIVE:To emphasize the effectiveness of phototherapeutic keratectomy (PTK) in a patient with Schnyder crystalline corneal dystrophy (SCCD). METHODSCase... 
Schnyder crystalline corneal dystrophy | Corneal dystrophy | Phototherapeutic keratectomy | PTK | OPHTHALMOLOGY | corneal dystrophy | CONFOCAL MICROSCOPY | phototherapeutic keratectomy | Lasers, Excimer | Humans | Adult | Corneal Dystrophies, Hereditary - surgery | Female | Photorefractive Keratectomy - methods | Visual Acuity | Index Medicus
Journal Article
Journal of the Korean Ophthalmological Society, ISSN 0378-6471, 07/2009, Volume 50, Issue 7, pp. 1120 - 1127
To report clinical and functional results in two female siblings with Bietti crystalline retinopathy. Recently, a 48-year-old female with bilateral... 
Bietti crystalline retinopathy | Siblings
Journal Article
Journal of the Korean Ophthalmological Society, ISSN 0378-6471, 03/2010, Volume 51, Issue 3, pp. 440 - 446
Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central corneal opacification and premature... 
Cornea | UBIAD1 | Schnyder corneal dystrophy | Schnyder crystalline corneal dystrophy | N102S
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4
UbiA prenyltransferase domain-containing protein 1 (UBIAD1) plays a significant role in vitamin K-2 (MK-4) synthesis. We investigated the enzymological... 
TARGET GENES | PHYLLOQUINONE VITAMIN-K-1 | MULTIDISCIPLINARY SCIENCES | XENOBIOTIC RECEPTOR SXR | ESCHERICHIA-COLI |