leucine and Retinitis Pigmentosa

leucine has been researched along with Retinitis Pigmentosa in 22 studies

Research

Studies (22)

Timeframe	Studies, this research(%)	All Research%
pre-1990	2 (9.09)	18.7374
1990's	10 (45.45)	18.2507
2000's	9 (40.91)	29.6817
2010's	1 (4.55)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Bellur, DL; Bowne, SJ; Chen, LJ; Daiger, SP; Grassi, MA; Larsson, C; Lu, S; Pang, CP; Staley, JP; Sullivan, LS; Zhao, C; Zhao, F; Zhao, K	1
Azam, M; Collin, RW; Cremers, FP; den Hollander, AI; Hussain, A; Kersten, FF; Keunen, JE; Khan, MI; Kremer, H; Qamar, R; Shah, ST	1
Hwa, J; Hwang, I; Khorana, HG; Stojanovic, A	1
Danciger, M; Grimm, C; Hoffman, S; Lem, J; Lyon, J; Reme, CE; Wenzel, A; Worrill, D	1
Deboer-Shields, KA; Oh, DM; Oh, KT; Parikh, A; Stone, EM; Streb, L; Vallar, C; Weleber, RG; White, J	1
Itabashi, T; Kawamura, M; Nishida, K; Sato, H; Tada, A; Tamai, M; Wada, Y	1
Baracca, A; Carelli, V; Casalena, G; Lenaz, G; Mattiazzi, M; Moggio, M; Pagnotta, E; Sgarbi, G; Solaini, G; Valentino, ML	1
Frederick, JM; Hollyfield, JG; Tabor, GA; Ulshafer, RJ	1
Macke, JP; Nathans, J; Roman, AJ; Rosas, DJ; Weissbrod, P	1
al-Maghtheh, M; Bhattacharya, S; Bird, A; Inglehearn, C; Jay, M; Lunt, P	1
al-Maghtheh, M; Arden, GB; Bhattacharya, SS; Bird, AC; Fitzke, FW; Jay, M; Kim, RY	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
Antich, J; Baiget, M; Carballo, M; Dante Heredia, C; Gean, E; Reig, C; Valverde, D	1
Al-Maghtheh, M; Bhattacharya, S; Inglehearn, C; Keen, J; Tarttelin, E	1
Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G; Ponjavic, V	1
Abe, T; Nakazawa, M; Tamai, M; Wada, Y	1
Bhattacharya, SS; Deery, EC; Hunt, DM; Newbold, RJ; Srinivasan, N; Walker, CE; Warren, MJ; Wilkie, SE	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
Apfelstedt-Sylla, E; Gal, A; Horn, M; Kunisch, M; Rüther, K; Zrenner, E	1
Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G	1
Berson, EL; Dryja, TP; Rosner, B; Sandberg, MA; Weigel-DiFranco, C	1
Brennan, E; Herron, WL; Riegel, BW; Rubin, ML	1

Other Studies

22 other study(ies) available for leucine and Retinitis Pigmentosa

Article	Year
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. American journal of human genetics, 2009, Volume: 85, Issue:5 Topics: Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Exons; Female; Genes, Dominant; Genetic Markers; HeLa Cells; Humans; Leucine; Lod Score; Male; Microsatellite Repeats; Molecular Sequence Data; Mutation; Mutation, Missense; Nuclear Proteins; Pedigree; Physical Chromosome Mapping; Retinitis Pigmentosa; Ribonucleoprotein, U4-U6 Small Nuclear; Ribonucleoprotein, U5 Small Nuclear; Ribonucleoproteins, Small Nuclear; RNA Splicing; RNA, Small Nuclear; Sequence Homology, Amino Acid	2009
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology, 2011, Volume: 118, Issue:7 Topics: Adult; Audiometry, Pure-Tone; Consanguinity; DNA; Electroretinography; Fundus Oculi; Genes, Recessive; Genetic Linkage; Humans; Intracellular Space; Leucine; Membrane Proteins; Microarray Analysis; Mutation, Missense; Night Blindness; Polymorphism, Single Nucleotide; Proline; Retinitis Pigmentosa; Tissue Distribution; Tryptophan; Young Adult	2011
Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis. The Journal of biological chemistry, 2003, Oct-03, Volume: 278, Issue:40 Topics: Amino Acid Sequence; Animals; Blotting, Western; Cell Membrane; COS Cells; Disulfides; Electrophoresis, Polyacrylamide Gel; Humans; Leucine; Microscopy, Fluorescence; Models, Molecular; Molecular Sequence Data; Mutation; Mutation, Missense; Protein Binding; Protein Conformation; Protein Folding; Protein Structure, Secondary; Retinitis Pigmentosa; Rhodopsin; Software; Spectrophotometry; Temperature; Time Factors; Transfection; Tryptophan; Ultraviolet Rays	2003
New retinal light damage QTL in mice with the light-sensitive RPE65 LEU variant. Mammalian genome : official journal of the International Mammalian Genome Society, 2004, Volume: 15, Issue:4 Topics: Alleles; Animals; Carrier Proteins; Chromosome Mapping; cis-trans-Isomerases; Crosses, Genetic; Dinucleotide Repeats; DNA; Eye Proteins; Female; Leucine; Light; Male; Mice; Mice, Inbred BALB C; Proteins; Quantitative Trait Loci; Retina; Retinitis Pigmentosa; Rhodopsin	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
Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa. Molecular vision, 2006, May-09, Volume: 12 Topics: Asian People; c-Mer Tyrosine Kinase; DNA Mutational Analysis; Exons; Gene Frequency; Genes, Recessive; Homozygote; Humans; Introns; Leucine; Mutation; Mutation, Missense; Proline; Proto-Oncogene Proteins; Receptor Protein-Tyrosine Kinases; Retinitis Pigmentosa	2006
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993. Biochimica et biophysica acta, 2007, Volume: 1767, Issue:7 Topics: Adenosine Triphosphate; Adult; Ataxia; DNA Mutational Analysis; DNA, Mitochondrial; Female; Genes, Mitochondrial; Humans; Leigh Disease; Leucine; Lymphocytes; Membrane Potentials; Middle Aged; Mitochondrial Proton-Translocating ATPases; Mutation; Peripheral Nervous System Diseases; Phenotype; Reactive Oxygen Species; Retinitis Pigmentosa	2007
Metabolic studies on retinal tissue from a donor with a dominantly inherited chorioretinal degeneration resembling sectoral retinitis pigmentosa. Ophthalmology, 1984, Volume: 91, Issue:2 Topics: Aged; Amino Acids; Choroid; Culture Techniques; Female; Humans; Leucine; Mannose; Photoreceptor Cells; Retinal Degeneration; Retinitis Pigmentosa; Trichloroacetic Acid; Uridine; Uveal Diseases	1984
Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. Investigative ophthalmology & visual science, 1994, Volume: 35, Issue:8 Topics: Adolescent; Adult; Aged; Amino Acid Sequence; Dark Adaptation; DNA Mutational Analysis; Electroretinography; Female; Humans; Leucine; Male; Molecular Sequence Data; Pedigree; Photoreceptor Cells; Polymerase Chain Reaction; Retinitis Pigmentosa; Rhodopsin; Valine; Visual Field Tests	1994
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
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
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
[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
Simple tests for rhodopsin involvement in retinitis pigmentosa. Journal of medical genetics, 1996, Volume: 33, Issue:3 Topics: Female; Genetic Markers; Histidine; Humans; Leucine; Male; Mutation; Pedigree; Point Mutation; Polymorphism, Restriction Fragment Length; Proline; Retinitis Pigmentosa; Rhodopsin	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
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
The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy. Human molecular genetics, 2001, Jan-01, Volume: 10, Issue:1 Topics: Amino Acid Sequence; Animals; Calcium; Calcium-Binding Proteins; Cell Line; Circular Dichroism; Cloning, Molecular; Cyclic GMP; Electrophoresis, Polyacrylamide Gel; Endopeptidases; Escherichia coli; Family Health; Glutamic Acid; Guanylate Cyclase-Activating Proteins; Hot Temperature; Humans; Leucine; Models, Biological; Models, Molecular; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Myristic Acids; Phenotype; Proline; Retinitis Pigmentosa; Sequence Homology, Amino Acid; Serine; Temperature	2001
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
Diffuse loss of rod function in autosomal dominant retinitis pigmentosa with pro-347-leu mutation of rhodopsin. German journal of ophthalmology, 1992, Volume: 1, Issue:5 Topics: Adult; Aged; Dark Adaptation; DNA Mutational Analysis; Electroretinography; Female; Fundus Oculi; Humans; Leucine; Male; Middle Aged; Mutation; Pedigree; Photoreceptor Cells; Proline; Retinal Diseases; Retinitis Pigmentosa; Rhodopsin; Visual Fields	1992
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
Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. American journal of ophthalmology, 1991, May-15, Volume: 111, Issue:5 Topics: Adolescent; Adult; Amino Acid Sequence; Chromosome Aberrations; Chromosome Disorders; Dark Adaptation; Electroretinography; Female; Fundus Oculi; Humans; Leucine; Male; Middle Aged; Molecular Sequence Data; Mutation; Night Blindness; Pedigree; Proline; Retinitis Pigmentosa; Rhodopsin; Visual Fields	1991
Retinal dystrophy in the pigmented rat. Investigative ophthalmology, 1974, Volume: 13, Issue:2 Topics: Animals; Autoradiography; Disease Models, Animal; Epithelium; Fundus Oculi; Humans; Leucine; Ophthalmoscopy; Phagocytosis; Phenylalanine; Photoreceptor Cells; Rats; Rats, Inbred Strains; Retinal Degeneration; Retinitis Pigmentosa; Time Factors; Tritium	1974