arginine and Retinitis Pigmentosa

arginine has been researched along with Retinitis Pigmentosa in 31 studies

Research

Studies (31)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	17 (54.84)	18.2507
2000's	13 (41.94)	29.6817
2010's	1 (3.23)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Bhattacharya, SS; De la Cerda, B; Del Boz, AA; Diaz-Corrales, FJ; García-Delgado, AB; Pensado, A; Rodriguez-Martinez, D; Sanchez, A; Seijo, B; Valdés-Sánchez, L	1
Coutts, N; Ehrenreich, L; Gama, AD; Goliath, R; Greenberg, LJ; Ramesar, R; Rebello, MT; Roberts, LJ; Vorster, AA	1
Fishman, GA; Grover, S; Stone, EM	1
Deboer-Shields, KA; Oh, DM; Oh, KT; Parikh, A; Stone, EM; Streb, L; Vallar, C; Weleber, RG; White, J	1
Kühnel, K; Schlichting, I; Veltel, S; Wittinghofer, A	1
Antiñolo, G; Ayuso, C; Baiget, M; Carballo, M; Gamundi, MJ; García-Sandoval, B; Hernan, I; Martínez-Gimeno, M; Maseras, M	1
Birch, DG; Bowne, SJ; Daiger, SP; Gire, AI; Heckenlively, JR; Hughbanks-Wheaton, D; Sullivan, LS	1
Branham, K; Cantrell, AD; Iannaccone, A; Jennings, BJ; Othman, MI; Swaroop, A	1
Burstedt, MS; Golovleva, I; Haamer, E; Jonsson, F; Kadzhaev, K; Köhn, L; Sandgren, O	1
Lam, BL; Sheffield, VC; Stone, EM; Vandenburgh, K	1
al-Maghtheh, M; Bhattacharya, S; Bird, A; Inglehearn, C; Jay, M; Lunt, P	1
Antich, J; Carballo, M; Gean, E; Llecha, N; Molina, M; Reig, C; Reventós, J; Tejada, I	1
al-Maghtheh, M; Arden, GB; Bhattacharya, SS; Bird, AC; Fitzke, FW; Jay, M; Kim, RY	1
Arden, G; Bhattacharya, S; Eckstein, A; Fitzke, F; Inglehearn, C; Jay, M; Jubb, C; Keen, J; Wells, J; Wroblewski, J	1
Benlian, P; Coscas, GJ; Gerber, S; Kaplan, J; Munnich, A; Soubrane, G; Souied, E	1
Baiget, M; Balcells, S; Bayés, M; Besmond, C; Chivelet, P; González-Duarte, R; Goossens, M; Grinberg, D; Solans, T; Valverde, D; Vilageliu, L	1
Garriga, P; Khorana, HG; Liu, X	1
Antich, J; Baiget, M; Carballo, M; Dante Heredia, C; Gean, E; Reig, C; Valverde, D	1
DeBernardo, C; Del Porto, G; Flagiello, L; Forte, R; Grammatico, B; Iannaccone, A; Pannarale, MR; Vingolo, EM	1
Antiñolo, G; Ayuso, C; Borrego, S; Carballo, M; Garcia-Sandoval, B; Reig, C; Trujillo, MJ	1
Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G; Ponjavic, V	1
Briard, ML; Chatelin, S; Dufier, JL; Gerber, S; Ghazi, I; Kaplan, J; Michel-Awad, A; Munnich, A; Perrault, I; Plessis, G; Rozet, JM; Segues, B; Souied, E	1
Abe, T; Nakazawa, M; Tamai, M; Wada, Y	1
Arnaud, B; Bareil, C; Claustres, M; Delague, V; Demaille, J; Hamel, C	1
Birch, DG; Bowne, SJ; Daiger, SP; Heckenlively, JR; Lewis, RA; Mintz-Hittner, H; Northrup, H; Rodriquez, JA; Ruiz, RS; Saperstein, DA; Sohocki, MM; Sullivan, LS	1
Chapple, JP; Cheetham, ME; Grayson, C; Hardcastle, AJ; Webster, AR; Willison, KR	1
Aherne, A; Ayuso, C; Demtroder, K; Farrar, GJ; Humphries, M; Humphries, P; Kenna, PF; Kennan, A; McKee, A; Orntoft, T; Palfi, A; Simpson, DA; Stitt, A	1
Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G	1
Gal, A; Niemeyer, G; Schinzel, A; Trüb, P	1
Boehnke, M; Kuo, CY; Richards, JE; Sieving, PA	1
Fishman, GA; Gilbert, LD; Kenna, P; Sheffield, VC; Stone, EM	1

Other Studies

31 other study(ies) available for arginine and Retinitis Pigmentosa

Article	Year
Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa. Nanomedicine : nanotechnology, biology, and medicine, 2016, Volume: 12, Issue:8 Topics: Animals; Arginine; DNA Mutational Analysis; Eye Proteins; Genes, Dominant; Genetic Therapy; Humans; Mice; Mutation; Nanoparticles; Pedigree; Retinitis Pigmentosa	2016
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? Clinical genetics, 2004, Volume: 65, Issue:1 Topics: Adult; Aged; Arginine; Codon, Nonsense; DNA Mutational Analysis; Epigenesis, Genetic; Exons; Eye Proteins; Female; GTP-Binding Proteins; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Proteins; Microtubules; Mosaicism; Pedigree; Retinitis Pigmentosa; Risk Assessment	2004
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. Ophthalmology, 2004, Volume: 111, Issue:10 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Arginine; Child; Child, Preschool; Electroretinography; Female; Genes, Dominant; Humans; IMP Dehydrogenase; Male; Night Blindness; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proline; Retinitis Pigmentosa; Visual Acuity; Visual Fields	2004
Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa. The British journal of ophthalmology, 2004, Volume: 88, Issue:12 Topics: Adolescent; Adult; Arginine; Child; Electroretinography; Family Health; Female; Fluorescein Angiography; Genotype; Humans; Leucine; Male; Middle Aged; Mutation; Pedigree; Phenotype; Retinitis Pigmentosa; Rhodopsin; Visual Acuity; Visual Field Tests; Visual Fields	2004
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. Structure (London, England : 1993), 2006, Volume: 14, Issue:2 Topics: ADP-Ribosylation Factors; Amino Acid Sequence; Animals; Arginine; Binding Sites; Catalysis; Crystallography, X-Ray; Eye Proteins; Ferredoxins; GTP-Binding Proteins; Humans; Intracellular Signaling Peptides and Proteins; Membrane Proteins; Models, Molecular; Molecular Sequence Data; Mutation, Missense; Protein Structure, Secondary; Protein Structure, Tertiary; Retinitis Pigmentosa; Sequence Alignment	2006
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. BMC medical genetics, 2006, Apr-05, Volume: 7 Topics: Amino Acid Sequence; Amino Acid Substitution; Arginine; DNA Mutational Analysis; Exons; Eye Proteins; Female; Genetic Predisposition to Disease; Humans; Male; Microtubule-Associated Proteins; Mutation, Missense; Pedigree; Polymorphism, Single Nucleotide; Retinitis Pigmentosa; Sequence Deletion; Spain	2006
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Molecular vision, 2007, Oct-17, Volume: 13 Topics: Adult; Arginine; Child; Cohort Studies; Female; Gene Frequency; Genes, Dominant; Glycine; Humans; Male; Middle Aged; Mutation; Orphan Nuclear Receptors; Pedigree; Receptors, Cytoplasmic and Nuclear; Retinitis Pigmentosa; Transcription Factors	2007
Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. Advances in experimental medicine and biology, 2008, Volume: 613 Topics: Arginine; DNA Mutational Analysis; Electroretinography; Eye Proteins; Female; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural; Heterozygote; Humans; Male; Mutation, Missense; Otitis Media; Pedigree; Phenotype; Respiratory Tract Infections; Retina; Retinitis Pigmentosa; Usher Syndromes	2008
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Investigative ophthalmology & visual science, 2008, Volume: 49, Issue:7 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Amino Acid Substitution; Arginine; Carbonic Anhydrase IV; Carrier Proteins; Child; Cytosine; Female; Fundus Oculi; Genes, Recessive; Heterozygote; Homozygote; Humans; Male; Middle Aged; Mutation; Phenotype; Retinitis Pigmentosa; Thymine; Tryptophan	2008
Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop). American journal of ophthalmology, 1995, Volume: 119, Issue:1 Topics: Adult; Amino Acid Sequence; Arginine; Base Sequence; Codon; DNA; Electroretinography; Fundus Oculi; Genes, Dominant; Humans; Intermediate Filament Proteins; Male; Membrane Glycoproteins; Middle Aged; Molecular Sequence Data; Mutation; Nerve Tissue Proteins; Neuropeptides; Pedigree; Peripherins; Polymerase Chain Reaction; Prospective Studies; Retinal Degeneration; Retinitis Pigmentosa; Rhodopsin	1995
Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa. Human mutation, 1994, Volume: 3, Issue:4 Topics: Arginine; Genes, Dominant; Humans; Leucine; Lysine; Methionine; Point Mutation; Protein Conformation; Retinitis Pigmentosa; Rhodopsin	1994
A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family. Human molecular genetics, 1994, Volume: 3, Issue:1 Topics: Amino Acid Sequence; Arginine; Base Sequence; DNA; Exons; Female; Genes, Dominant; Histidine; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Retinitis Pigmentosa; Rhodopsin; Spain; Threonine	1994
Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5. Archives of ophthalmology (Chicago, Ill. : 1960), 1993, Volume: 111, Issue:11 Topics: Adult; Arginine; Dark Adaptation; Electroretinography; Exons; Female; Fundus Oculi; Humans; Leucine; Male; Middle Aged; Mutation; Pedigree; Retinitis Pigmentosa; Rhodopsin; RNA Splicing; Visual Acuity; Visual Fields	1993
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nature genetics, 1993, Volume: 3, Issue:3 Topics: Adult; Amino Acid Sequence; Arginine; Base Sequence; Cysteine; DNA; Exons; Eye Proteins; Female; Fluorescein Angiography; Genes, Dominant; Glutamine; Humans; Intermediate Filament Proteins; Macular Degeneration; Male; Membrane Glycoproteins; Molecular Sequence Data; Nerve Tissue Proteins; Oligodeoxyribonucleotides; Pedigree; Peripherins; Point Mutation; Polymerase Chain Reaction; Retinal Degeneration; Retinitis Pigmentosa; Sequence Deletion; Tryptophan	1993
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. American journal of ophthalmology, 1996, Volume: 121, Issue:1 Topics: Adolescent; Adult; Amino Acid Sequence; Apolipoproteins E; Arginine; Base Sequence; DNA; Eye Proteins; Female; Fundus Oculi; Humans; Infant; Intermediate Filament Proteins; Male; Membrane Glycoproteins; Membrane Proteins; Molecular Sequence Data; Mutation; Nerve Tissue Proteins; Pedigree; Peripherins; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Retinal Degeneration; Retinitis Pigmentosa; Rhodopsin; Rod Cell Outer Segment; Tetraspanins; Tryptophan	1996
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family. Human genetics, 1996, Volume: 97, Issue:1 Topics: 3',5'-Cyclic-GMP Phosphodiesterases; Amino Acid Sequence; Arginine; Base Sequence; Codon; Consanguinity; Cyclic Nucleotide Phosphodiesterases, Type 6; Female; Humans; Leucine; Male; Molecular Sequence Data; Pedigree; Phosphoric Diester Hydrolases; Point Mutation; Polymorphism, Single-Stranded Conformational; Retinal Rod Photoreceptor Cells; Retinitis Pigmentosa	1996
Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125-->Arg in the transmembrane helix C. Proceedings of the National Academy of Sciences of the United States of America, 1996, May-14, Volume: 93, Issue:10 Topics: Amino Acid Sequence; Animals; Arginine; Binding Sites; Cattle; Cell Line; Conserved Sequence; Gene Expression; Genes, Dominant; Humans; Molecular Sequence Data; Point Mutation; Protein Folding; Protein Structure, Secondary; Retinitis Pigmentosa; Rhodopsin; Transfection	1996
[Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa]. Medicina clinica, 1996, Feb-17, Volume: 106, Issue:6 Topics: Adult; Arginine; Base Sequence; Child; Codon; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Exons; Female; Genes, Dominant; Humans; Leucine; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Retinitis Pigmentosa; Rhodopsin	1996
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. Ophthalmology, 1996, Volume: 103, Issue:9 Topics: Adolescent; Adult; Arginine; Child; DNA; Electroretinography; Female; Humans; Longitudinal Studies; Male; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Retina; Retinitis Pigmentosa; Rhodopsin; Tryptophan; Visual Fields	1996
G106R rhodopsin mutation is also present in Spanish ADRP patients. Ophthalmic genetics, 1996, Volume: 17, Issue:3 Topics: Adolescent; Adult; Aged; Arginine; Child; Child, Preschool; DNA; Electroretinography; Female; Glycine; Humans; Male; Pedigree; Point Mutation; Retina; Retinitis Pigmentosa; Rhodopsin; Spain; Visual Fields	1996
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. Acta ophthalmologica Scandinavica, 1997, Volume: 75, Issue:2 Topics: Adolescent; Adult; Arginine; Child; DNA Mutational Analysis; DNA Primers; Electroretinography; Female; Fundus Oculi; Genes, Dominant; Genetic Testing; Humans; Leucine; Male; Middle Aged; Molecular Sequence Data; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction; Retinitis Pigmentosa; Rhodopsin; Visual Fields	1997
Severe manifestations in carrier females in X linked retinitis pigmentosa. Journal of medical genetics, 1997, Volume: 34, Issue:10 Topics: Adolescent; Adult; Arginine; Carrier Proteins; Child; Child, Preschool; Chromosome Mapping; Eye Proteins; Female; Genetic Linkage; Genetic Markers; Heterozygote; Humans; Isoleucine; Male; Middle Aged; Pedigree; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Retinitis Pigmentosa; X Chromosome	1997
A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. Investigative ophthalmology & visual science, 2000, Volume: 41, Issue:1 Topics: Adult; Arginine; DNA Mutational Analysis; Electroretinography; Eye Proteins; Female; Fluorescein Angiography; Genetic Linkage; GTP-Binding Proteins; Humans; Intracellular Signaling Peptides and Proteins; Japan; Leucine; Male; Membrane Proteins; Point Mutation; Proteins; Retinitis Pigmentosa; Visual Fields; X Chromosome	2000
W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa. Human mutation, 2000, Volume: 15, Issue:6 Topics: Arginine; Genes, Dominant; Humans; Intermediate Filament Proteins; Membrane Glycoproteins; Mutation, Missense; Nerve Tissue Proteins; Peripherins; Retinal Degeneration; Retinitis Pigmentosa; Tryptophan	2000
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Human mutation, 2001, Volume: 17, Issue:1 Topics: Amino Acid Substitution; Animals; Arginine; Cysteine; Genetic Variation; Glutamine; Homeodomain Proteins; Humans; Intermediate Filament Proteins; Leucine; Membrane Glycoproteins; Mutation; Nerve Tissue Proteins; Optic Atrophies, Hereditary; Peripherins; Prevalence; Proline; Retinal Degeneration; Retinal Diseases; Retinitis Pigmentosa; Rhodopsin; Trans-Activators; Tyrosine	2001
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients. Journal of medical genetics, 2002, Volume: 39, Issue:1 Topics: Animals; Anti-Bacterial Agents; Arginine; Cell Line; CHO Cells; Codon, Nonsense; Cricetinae; Eye Proteins; Gentamicins; GTP-Binding Proteins; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Proteins; Proteins; Retinitis Pigmentosa	2002
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. Human molecular genetics, 2002, Mar-01, Volume: 11, Issue:5 Topics: Amino Acid Motifs; Amino Acid Sequence; Amino Acid Substitution; Animals; Arginine; Chromosomes, Human, Pair 7; Conserved Sequence; Gene Expression Profiling; Genes, Dominant; Humans; IMP Dehydrogenase; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation; Oligonucleotide Array Sequence Analysis; Phenotype; Retina; Retinitis Pigmentosa; Rhodopsin; Transcription, Genetic	2002
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). Ophthalmic paediatrics and genetics, 1992, Volume: 13, Issue:3 Topics: Adult; Aged; Arginine; Base Sequence; DNA; DNA Probes; Electrophoresis, Agar Gel; Electroretinography; Female; Fundus Oculi; Humans; Leucine; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Retinitis Pigmentosa; Rhodopsin	1992
Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene. Documenta ophthalmologica. Advances in ophthalmology, 1992, Volume: 79, Issue:4 Topics: Adolescent; Adult; Arginine; Electroretinography; Humans; Male; Middle Aged; Mutagenesis, Site-Directed; Pedigree; Photoreceptor Cells; Proline; Retinitis Pigmentosa; Rhodopsin	1992
Rhodopsin Thr58Arg mutation in a family with autosomal dominant retinitis pigmentosa. Ophthalmology, 1991, Volume: 98, Issue:12 Topics: Adult; Aged; Arginine; Base Sequence; Dark Adaptation; DNA; Electroretinography; Female; Genes, Dominant; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Retinitis Pigmentosa; Rhodopsin; Sensory Thresholds; Threonine; Visual Fields	1991
Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960), 1991, Volume: 109, Issue:10 Topics: Adult; Arginine; Base Sequence; Chromosome Aberrations; Chromosome Disorders; Codon; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Electroretinography; Female; Fundus Oculi; Gene Expression; Genes, Dominant; Humans; Male; Middle Aged; Molecular Sequence Data; Mutagenesis; Pedigree; Phenotype; Retinitis Pigmentosa; Rhodopsin; Threonine; Visual Fields	1991