Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1
Data up to Jan 2025
Total Citations Per Year
Abstract
References (38)
Prediction of Protein Secondary Structure at Better than 70% Accuracy
1993 • 2,958 citations
The P450 Superfamily: Update on New Sequences, Gene Mapping, Accession Numbers, Early Trivial Names of Enzymes, and Nomenclature
1993 • 1,663 citations
High-resolution crystal structure of cytochrome P450cam
1987 • 1,396 citations
ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling
1996 • 948 citations
Crystal Structure of Hemoprotein Domain of P450BM-3, a Prototype for Microsomal P450's
1993 • 876 citations
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
1997 • 630 citations
17 beta-estradiol hydroxylation catalyzed by human cytochrome P450 1B1.
1996 • 621 citations
Tumor-specific expression of cytochrome P450 CYP1B1.
1997 • 527 citations
Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2.
1994 • 503 citations
Crystal structure and refinement of cytochrome P450terp at 2·3 Å resolution
1994 • 393 citations
Primary infantile glaucoma (congenital glaucoma)
1983 • 357 citations
Pattern-induced multi-sequence alignment (PUMA) algorithm employing secondary structure-dependent gap penalties for use in comparative protein modelling
1992 • 281 citations
MINIREVIEW: Proposed Role of Drug-Metabolizing Enzymes: Regulation of Steady State Levels of the Ligands That Effect Growth, Homeostasis, Differentiation, and Neuroendocrine Functions
1991 • 273 citations
Assignment of a Locus (GLC3A) for Primary Congenital Glaucoma (Buphthalmos) to 2p21 and Evidence for Genetic Heterogeneity
1995 • 252 citations
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region
1996 • 232 citations
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
1988 • 229 citations
Isolation and Characterization of the Human Cytochrome P450 CYP1B1 Gene
1996 • 225 citations
A New Concept
1974 • 219 citations
The development of the trabecular meshwork and its abnormality in primary infantile glaucoma.
1981 • 189 citations
Importance of the Proline-Rich Region Following Signal-Anchor Sequence in the Formation of Correct Conformation of Microsomal Cytochrome P-450s1
1993 • 169 citations
Pathogenesis of Congenital Glaucoma
1955 • 154 citations
Congenital Glaucoma and Its Inheritance
1980 • 148 citations
Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance.
1989 • 127 citations
Anatomical Classification of the Developmental Glaucomas
1984 • 121 citations
A New Concept of the Development of theAnterior Chamber Angle
1955 • 100 citations
The Pathogenesis of Congenital Glaucoma*
1959 • 99 citations
Observations on the Development of the Anterior Chamber Angle with Reference to the Pathogenesis of Congenital Glaucomas
1979 • 98 citations
Expression of Na,K‐ATPase alpha subunit isoforms in the human ciliary body and cultured ciliary epithelial cells
1989 • 79 citations
[35] Structural alignments of P450s and extrapolations to the unknown
1996 • 78 citations
Incidence and Prognosis of Childhood Glaucoma
1986 • 67 citations
Functional Analysis of the Promoter for the HumanCYP1B1 Gene
1997 • 57 citations
Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia
1998 • 54 citations
Congenital and Pediatric Glaucomas
1971 • 49 citations
Therapeutical and genetical aspects of congenital glaucomas
1992 • 40 citations
Different Structural Requirements at Specific Proline Residue Positions in the Conserved Proline-rich Region of Cytochrome P450 2C2
1996 • 33 citations
Epidemiology and Genetics of Primary Congenital Glaucoma in Slovakia
2015 • 22 citations
Congenital and Pediatric Glaucomas
1971 • 12 citations
Deleted Work
1955 • 0 citations
Cited By (0)
No citing papers found in database