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Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 07/2016, Volume 126, Issue 7, pp. 2575 - 2587
Journal Article
MOLECULAR VISION, ISSN 1090-0535, 07/2019, Volume 25, pp. 373 - 381
Purpose: Intraocular pressure leading to glaucoma is a major cause of childhood blindness in developing countries. In this study, we sought to identify gene... 
MOLECULAR-GENETICS | MYOC | GYPSIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | CYTOCHROME P4501B1 CYP1B1 | OPHTHALMOLOGY | JAPANESE PATIENTS | CHINESE PATIENTS | IDENTIFICATION | GLC3A LOCUS | Index Medicus
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2013, Volume 155, Issue 3, pp. 508 - 517.e5
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, pp. e0156252 - e0156252
Glaucoma, the leading cause of irreversible blindness, appears in various forms. Mutations in CYP1B1 result in primary congenital glaucoma (PCG) by an... 
GENE-MUTATIONS | ESSENTIAL DYNAMICS | PROTEIN DYNAMICS | OPEN-ANGLE GLAUCOMA | MULTIDISCIPLINARY SCIENCES | CYTOCHROME P4501B1 CYP1B1 | JAPANESE PATIENTS | HAPLOTYPE BACKGROUNDS | EYE DEVELOPMENT | INDIAN PATIENTS | MUTATION SPECTRUM | Cytochrome P-450 CYP1B1 - genetics | Humans | Cytochrome P-450 CYP1B1 - metabolism | Glaucoma - enzymology | Vitamin A - metabolism | Genetic Variation | HEK293 Cells | Conserved Sequence | Adult | Infant, Newborn | Recombinant Proteins - metabolism | Amino Acid Sequence | Cell Line | Estradiol - metabolism | Genetic Association Studies | Mutant Proteins - genetics | Recombinant Proteins - chemistry | Cytochrome P-450 CYP1B1 - chemistry | Mutant Proteins - metabolism | Recombinant Proteins - genetics | Glaucoma - congenital | Molecular Dynamics Simulation | Arginine - chemistry | Mutant Proteins - chemistry | Protein Conformation | Mutation | Glaucoma - genetics | Glaucoma | Molecular genetics | Genetic variation | Genetic aspects | Diagnosis | Identification and classification | Health aspects | Cytochrome | Enzyme activity | Disease | Pathogenesis | Genes | Variations | Molecular dynamics | Biology | Estradiol | Turnover rate | Proteins | Vitamin A | Enzymatic activity | Metabolites | Older people | Genetics | Informatics | Dynamic structural analysis | Translation | Congenital diseases | Cytochrome P450 | Principal components analysis | Heredity | Metabolism | Mutants | Studies | Cycloheximide | Sex hormones | Blindness | Structural analysis | Structure-function relationships | Index Medicus
Journal Article
Bioscience Reports, ISSN 0144-8463, 08/2018, Volume 38, Issue 4, p. 1
Primary congenital glaucoma (PCG) is an inherited blinding eye disease. The CYP1B1 gene was identified as a causal gene for PCG, and many mutations have been... 
Glaucoma | Dynamic structural analysis | Populations | Computer simulation | CYP1B1 gene | Hot spots | Molecular dynamics | Electrostatic properties | Patients | Epidemiology | Hydrogen bonding | Mutants | Proteins | Gene frequency | Hydrogen bonds | Hemoglobin | Mutation | Bioinformatics | Destabilization | Three dimensional models | Protein structure | Structure-function relationships
Journal Article