Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments

1986 • 1,702 citations

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

1989 • 1,295 citations

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1990 • 1,032 citations

[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

1987 • 944 citations

Isolation, sequence analysis, and intron-exon arrangement of the gene encoding bovine rhodopsin

1983 • 689 citations

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.

1991 • 492 citations

Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa

1990 • 478 citations

Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

1991 • 455 citations

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1992 • 417 citations

Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin.

1988 • 409 citations

THE MUTATION AND POLYMORPHISM OF THE HUMAN β-GLOBIN GENE AND ITS SURROUNDING DNA

1984 • 404 citations

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

1991 • 364 citations

Primary structures of chicken cone visual pigments: vertebrate rhodopsins have evolved out of cone visual pigments.

1992 • 336 citations

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

1992 • 331 citations

Assembly of functional rhodopsin requires a disulfide bond between cysteine residues 110 and 187.

1990 • 320 citations

Ocular Findings in Patients With Autosomal Dominant Retinitis Pigmentosa and a Rhodopsin Gene Defect (Pro-23-His)

1991 • 229 citations

Autosomal Dominant Sectoral Retinitis Pigmentosa

1991 • 219 citations

Convergent evolution of the red- and green-like visual pigment genes in fish, Astyanax fasciatus, and human.

1990 • 204 citations

Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus

1992 • 184 citations

Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

1992 • 179 citations

Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Mutations

1991 • 168 citations

Autosomal dominant retinitis pigmentosa: Four new mutations in rhodopsin, one of them in the retinal attachment site

1991 • 166 citations

Ocular Findings in Patients with Autosomal Dominant Retinitis Pigmentosa and Rhodopsin, Proline-347-Leucine

1991 • 161 citations

Cloning and expression of goldfish opsin sequences

1993 • 159 citations

A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis piamentosa

1992 • 144 citations

Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

1991 • 140 citations

Role of the intradiscal domain in rhodopsin assembly and function.

1990 • 139 citations

A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

1991 • 133 citations

Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

1992 • 98 citations

Isolation and sequence determination of the chicken rhodopsin gene

1988 • 97 citations

Ocular Findings Associated With a Rhodopsin Gene Codon 106 Mutation

1992 • 91 citations

Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

1990 • 88 citations

Abnormal Rod Dark Adaptation in Autosomal Dominant Retinitis Pigmentosa With Proline-23-Histidine Rhodopsin Mutation

1992 • 85 citations

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa

1991 • 82 citations

Isolation and characterization of lamprey rhodopsin cDNA

1991 • 77 citations

Ocular Findings Associated With Rhodopsin Gene Codon 267 and Codon 190 Mutations in Dominant Retinitis Pigmentosa

1992 • 73 citations

Autosomal dominant retinitis pigmentosa: A mutation in codon 178 of the rhodopsin gene in two families of celtic origin

1991 • 72 citations

The primary structure of iodopsin, a chicken red‐sensitive cone pigment

1990 • 67 citations

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

1992 • 67 citations

Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.

1992 • 52 citations

A visual pigment from chicken that resembles rhodopsin: amino acid sequence, gene structure, and functional expression

1992 • 51 citations

Cloning of cDNA and amino acid sequence of one of chicken cone visual pigments

1990 • 30 citations