proline and Pigmentary Retinopathy

proline has been researched along with Pigmentary Retinopathy in 31 studies

Research

Studies (31)

Timeframe	Studies, this research(%)	All Research%
pre-1990	2 (6.45)	18.7374
1990's	16 (51.61)	18.2507
2000's	7 (22.58)	29.6817
2010's	5 (16.13)	24.3611
2020's	1 (3.23)	2.80

Authors

Authors	Studies
Girach, A; Justin, GA; Maldonado, RS	1
Shah, SP; Sharp, DM; Vincent, AL; Wong, F	1
Acosta, ML; Christie, DL; Fletcher, EL; Kalloniatis, M; Ready, S; Shin, YS	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
Chan, F; Price, BA; Sandoval, IM; Simons, DL; Wensel, TG; Wilson, JH; Wu, SM	1
Ferrell, WD; Jones, BW; Lee, DC; Marc, RE; Moritz, OL; Tam, BM; Vazquez-Chona, FR	1
Fishman, GA; Grover, S; Stone, EM	1
Itabashi, T; Kawamura, M; Nishida, K; Sato, H; Tada, A; Tamai, M; Wada, Y	1
Moritz, OL; Tam, BM	1
Birch, DG; Hood, DC; Nusinowitz, S; Pepperberg, DR	1
Hennessey, JC; Macke, JP; Nathans, J	1
Berson, EL; Dryja, TP; Sandberg, MA; Weigel-DiFranco, C	1
Creel, DJ; Richards, SC	1
Al-Maghtheh, M; Bhattacharya, S; Inglehearn, C; Keen, J; Tarttelin, E	1
Abrahamson, M; Andréasson, S; Ehinger, B; Fex, G; Polland, W; Ponjavic, V	1
Drenser, KA; Flannery, JG; Hauswirth, WW; LaVail, MM; Lewin, AS; Nishikawa, S; Yasumura, D	1
Berson, EL; Dryja, TP; McEvoy, JA; McGee, TL	1
Ayuso, C; Garcia-Sandoval, B; Gimenez, A; Gonzalez-Gonzalez, MC; Ibañez, A; Lorda-Sanchez, I; Ramos, C; Sanz, R; Trujillo, MJ	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
Bennett, WM; Carone, FA; Krill, AE; Simon, NM; Weinstein, RF	1
Berson, EL; Cowley, GS; Dryja, TP; Gordon, JW; Hayes, A; Molday, RS; Mukai, S; Olsson, JE; Pawlyk, BS; Roof, D	1
Apfelstedt-Sylla, E; Gal, A; Horn, M; Kunisch, M; Rüther, K; Zrenner, E	1
Jacobson, SG; Kemp, CM; Nathans, J; Roman, AJ; Sung, CH	1
Gal, A; Niemeyer, G; Schinzel, A; Trüb, P	1
Fishman, GA; Khadivi, P; Kimura, AE; Nichols, BE; Sheffield, VC; Stone, EM	1
Berson, EL; Dryja, TP; Rosner, B; Sandberg, MA	1
Berson, EL; Dryja, TP; Rosner, B; Sandberg, MA; Weigel-DiFranco, C	1
Bashir, R; Bradley, DG; Farrar, GJ; Humphries, MM; Inglehearn, CF; Jay, M; Kenna, P; McWilliam, P; Redmond, R; Sharp, EM	1
Ehinger, B	1
Boltshauser, E; Niemeyer, G; Steinlin, M; Steinmann, B; Wichmann, W	1

Reviews

1 review(s) available for proline and Pigmentary Retinopathy

Article	Year
Antisense oligonucleotide therapy for proline-23-histidine autosomal dominant retinitis pigmentosa. Current opinion in ophthalmology, 2023, May-01, Volume: 34, Issue:3 Topics: Animals; Histidine; Humans; Mutation; Oligonucleotides, Antisense; Proline; Retinitis Pigmentosa; Rhodopsin	2023

Other Studies

30 other study(ies) available for proline and Pigmentary Retinopathy

Article	Year
A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa. Ophthalmic genetics, 2014, Volume: 35, Issue:4 Topics: Adult; Electrophysiology; Histidine; Humans; Male; Pedigree; Point Mutation; Proline; Retinitis Pigmentosa; Rhodopsin; Visual Acuity; Visual Fields; White People	2014
Retinal metabolic state of the proline-23-histidine rat model of retinitis pigmentosa. American journal of physiology. Cell physiology, 2010, Volume: 298, Issue:3 Topics: Adenosine Triphosphate; Age Factors; Animals; Apoptosis; Ca(2+) Mg(2+)-ATPase; Coumaric Acids; Creatine; Creatine Kinase; Disease Models, Animal; Disease Progression; Energy Metabolism; Histidine; L-Lactate Dehydrogenase; Membrane Transport Proteins; Monocarboxylic Acid Transporters; Mutation; Phosphocreatine; Phosphodiesterase Inhibitors; Piperazines; Proline; Purines; Rats; Rats, Sprague-Dawley; Rats, Transgenic; Retina; Retinitis Pigmentosa; Sensory Rhodopsins; Sildenafil Citrate; Sodium-Potassium-Exchanging ATPase; Sulfones	2010
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
Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa. Investigative ophthalmology & visual science, 2011, Dec-28, Volume: 52, Issue:13 Topics: Animals; Blotting, Northern; Codon; Disease Models, Animal; Electroretinography; Gene Expression Regulation; Gene Knock-In Techniques; Genotyping Techniques; Green Fluorescent Proteins; Histidine; Mice; Mice, Inbred C57BL; Microscopy, Confocal; Mutagenesis, Site-Directed; Mutation; Proline; Recombinant Fusion Proteins; Retinal Photoreceptor Cell Inner Segment; Retinal Photoreceptor Cell Outer Segment; Retinitis Pigmentosa; Rhodopsin	2011
Dysmorphic photoreceptors in a P23H mutant rhodopsin model of retinitis pigmentosa are metabolically active and capable of regenerating to reverse retinal degeneration. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2012, Feb-08, Volume: 32, Issue:6 Topics: Amino Acid Substitution; Animals; Animals, Genetically Modified; Disease Models, Animal; Histidine; Mutation; Nerve Regeneration; Proline; Retinal Degeneration; Retinal Rod Photoreceptor Cells; Retinitis Pigmentosa; Rhodopsin; Xenopus laevis	2012
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
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
Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin. The Journal of neuroscience : the official journal of the Society for Neuroscience, 2007, Aug-22, Volume: 27, Issue:34 Topics: Animals; Animals, Genetically Modified; Cattle; Cell Line, Transformed; Darkness; Disease Models, Animal; Gene Expression Regulation; Histidine; Humans; Mice; Microscopy, Electron, Scanning; Mutation; Peptide Fragments; Proline; Retinal Rod Photoreceptor Cells; Retinaldehyde; Retinitis Pigmentosa; Rhodopsin; Transfection; Xenopus laevis	2007
Abnormal activation and inactivation mechanisms of rod transduction in patients with autosomal dominant retinitis pigmentosa and the pro-23-his mutation. Investigative ophthalmology & visual science, 1995, Volume: 36, Issue:8 Topics: Adolescent; Adult; Dark Adaptation; Electroretinography; Female; Histidine; Humans; Male; Middle Aged; Mutation; Photic Stimulation; Proline; Retinal Cone Photoreceptor Cells; Retinal Rod Photoreceptor Cells; Retinitis Pigmentosa; Rhodopsin; Signal Transduction; Structure-Activity Relationship	1995
Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347. Human molecular genetics, 1995, Volume: 4, Issue:4 Topics: Alanine; Amino Acid Sequence; Base Sequence; DNA; Female; Genes, Dominant; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Proline; Retinitis Pigmentosa; Rhodopsin	1995
Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Investigative ophthalmology & visual science, 1995, Volume: 36, Issue:9 Topics: Adolescent; Adult; Aged; Amino Acid Sequence; Child; Codon; Dark Adaptation; Electroretinography; Humans; Middle Aged; Molecular Sequence Data; Mutation; Proline; Retina; Retinitis Pigmentosa; Rhodopsin; Structure-Activity Relationship; Visual Acuity; Visual Fields	1995
Pattern dystrophy and retinitis pigmentosa caused by a peripherin/RDS mutation. Retina (Philadelphia, Pa.), 1995, Volume: 15, Issue:1 Topics: Adult; Aged; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 6; Eye Proteins; Humans; Intermediate Filament Proteins; Male; Membrane Glycoproteins; Middle Aged; Mutation; Nerve Tissue Proteins; Neuropeptides; Pedigree; Peripherins; Proline; Retina; Retinal Degeneration; Retinitis Pigmentosa; Serine	1995
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
A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu. Ophthalmic genetics, 1997, Volume: 18, Issue:2 Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Electroretinography; Exons; Eye Diseases, Hereditary; Family Health; Female; Genes, Dominant; Genetic Testing; Heterozygote; Humans; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Proline; Retinitis Pigmentosa; Rhodopsin; Sequence Analysis, DNA; Sweden; Visual Acuity	1997
Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa. Nature medicine, 1998, Volume: 4, Issue:8 Topics: Animals; Animals, Genetically Modified; Dependovirus; Disease Models, Animal; Genes, Dominant; Genetic Therapy; Histidine; Photoreceptor Cells; Point Mutation; Proline; Promoter Regions, Genetic; Rats; Rats, Sprague-Dawley; Retinal Rod Photoreceptor Cells; Retinitis Pigmentosa; Rhodopsin; RNA, Catalytic; Rod Opsins	1998
Novel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa. Investigative ophthalmology & visual science, 2000, Volume: 41, Issue:10 Topics: DNA Mutational Analysis; Female; Glutamine; Glycine; Humans; Male; Mutation, Missense; Pedigree; Polymorphism, Single-Stranded Conformational; Proline; Retinitis Pigmentosa; Rhodopsin; Valine	2000
Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family. Ophthalmic genetics, 2000, Volume: 21, Issue:4 Topics: Adult; DNA Mutational Analysis; Electroretinography; Female; Fundus Oculi; Genes, Dominant; Genotype; Humans; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proline; Retinitis Pigmentosa; Rhodopsin; Serine; Spain; Visual Fields	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
Cystic disease of the renal medulla associated with retinitis pigmentosa and imino acid abnormalities. Clinical nephrology, 1975, Volume: 4, Issue:1 Topics: Adult; Female; Hearing Tests; Humans; Hydroxyproline; Kidney; Kidney Diseases, Cystic; Kidney Function Tests; Kidney Medulla; Male; Pedigree; Proline; Retinitis Pigmentosa; Sodium; Vision Tests	1975
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron, 1992, Volume: 9, Issue:5 Topics: Animals; Codon; Disease Models, Animal; Electroretinography; Fundus Oculi; Humans; Mice; Mice, Transgenic; Microscopy, Electron; Mutation; Ophthalmoscopy; Photoreceptor Cells; Proline; Restriction Mapping; Retina; Retinal Vessels; Retinitis Pigmentosa; Rhodopsin; Rod Opsins	1992
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
Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation. American journal of ophthalmology, 1992, Feb-15, Volume: 113, Issue:2 Topics: Adolescent; Adult; Aged; Codon; Dark Adaptation; Electroretinography; Female; Histidine; Humans; Male; Middle Aged; Mutation; Pedigree; Photoreceptor Cells; Proline; Retinitis Pigmentosa; Rhodopsin; Visual Fields	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
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology, 1991, Volume: 98, Issue:12 Topics: Adolescent; Adult; Aged; Amino Acid Sequence; Base Sequence; Codon; DNA; Female; Histidine; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Proline; Retinal Degeneration; Retinitis Pigmentosa; Rhodopsin; Visual Fields	1991
Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His). Archives of ophthalmology (Chicago, Ill. : 1960), 1991, Volume: 109, Issue:1 Topics: Adolescent; Adult; Base Sequence; Codon; Dark Adaptation; Electroretinography; Female; Fundus Oculi; Histidine; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Oligonucleotide Probes; Pedigree; Polymerase Chain Reaction; Proline; Retinitis Pigmentosa; Rhodopsin; Visual Acuity; Visual Fields	1991
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
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe. American journal of human genetics, 1990, Volume: 47, Issue:6 Topics: Amino Acid Sequence; Base Sequence; Codon; Europe; Exons; Female; Genes, Dominant; Histidine; Humans; Male; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Proline; Retinitis Pigmentosa; Rhodopsin	1990
[Unexpected findings partly explain the causes of retinitis pigmentosa]. Lakartidningen, 1990, Apr-25, Volume: 87, Issue:17 Topics: Base Sequence; Histidine; Humans; Molecular Conformation; Molecular Sequence Data; Photoreceptor Cells; Proline; Retinal Pigments; Retinitis Pigmentosa; Rhodopsin	1990
Hyperprolinaemia type I and white matter disease: coincidence or causal relationship? European journal of pediatrics, 1989, Volume: 149, Issue:1 Topics: Brain Diseases; Cerebral Palsy; Child; Humans; Leukodystrophy, Globoid Cell; Magnetic Resonance Imaging; Male; Proline; Retinitis Pigmentosa; Tomography, X-Ray Computed	1989