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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

Published1998
Citations368
References38

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

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Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21… (1998) – The American Journal of Human Genetics | Metascience Observatory Explorer