Compounds > tryptophan

tryptophan and Pigmentary Retinopathy

tryptophan has been researched along with Pigmentary Retinopathy in 11 studies

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19902 (18.18)18.7374
1990's3 (27.27)18.2507
2000's5 (45.45)29.6817
2010's1 (9.09)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Azam, M; Collin, RW; Cremers, FP; den Hollander, AI; Hussain, A; Kersten, FF; Keunen, JE; Khan, MI; Kremer, H; Qamar, R; Shah, ST1
Hwa, J; Hwang, I; Khorana, HG; Stojanovic, A1
Aartsen, WM; Kamphuis, W; Malysheva, A; McCabe, CJ; Meuleman, J; Seeliger, MW; Tonagel, F; van de Pavert, SA; Versteeg, I; Wijnholds, J1
Burstedt, MS; Golovleva, I; Haamer, E; Jonsson, F; Kadzhaev, K; Köhn, L; Sandgren, O1
Arden, G; Bhattacharya, S; Eckstein, A; Fitzke, F; Inglehearn, C; Jay, M; Jubb, C; Keen, J; Wells, J; Wroblewski, J1
Benlian, P; Coscas, GJ; Gerber, S; Kaplan, J; Munnich, A; Soubrane, G; Souied, E1
DeBernardo, C; Del Porto, G; Flagiello, L; Forte, R; Grammatico, B; Iannaccone, A; Pannarale, MR; Vingolo, EM1
Arnaud, B; Bareil, C; Claustres, M; Delague, V; Demaille, J; Hamel, C1
Bulman, D; Damji, KF; Gupta, SK; Hussein, N; Jamal, A; Karim, N; Khan, R; Koenekoop, RK; Ladak, SS; Loyer, M; Rahim, M; Sohocki, MM1
Eriksson, O; Hultberg, B; Ockerman, PA1
Komine, H; Matsushita, K; Tani, Y1

Other Studies

11 other study(ies) available for tryptophan and Pigmentary Retinopathy

ArticleYear
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
A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 2007, Jan-17, Volume: 27, Issue:3

    Topics: Amino Acid Sequence; Amino Acid Substitution; Animals; Cysteine; Eye Proteins; Gene Expression Regulation; Humans; Membrane Proteins; Mice; Mice, Knockout; Molecular Sequence Data; Neoplasm Proteins; Nerve Tissue Proteins; Protein Structure, Tertiary; Retinal Degeneration; Retinitis Pigmentosa; Securin; Tryptophan

2007
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
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
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
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
Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.
    Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 2001, Volume: 36, Issue:5

    Topics: Adaptor Proteins, Signal Transducing; Adolescent; Adult; Aged; Blindness; Carrier Proteins; Child; Child, Preschool; Chromosomes, Human, Pair 17; Codon, Nonsense; Codon, Terminator; Consanguinity; DNA Mutational Analysis; Eye Proteins; Female; Genetic Linkage; Haplotypes; Humans; Keratoconus; Male; Middle Aged; Optic Atrophy, Hereditary, Leber; Pakistan; Pedigree; Polymorphism, Genetic; Retinitis Pigmentosa; Tryptophan

2001
Urinary amino acids in storage disorders: mucopolysaccharidosis, Gaucher's disease and metachromatic leucodystrophy.
    Metabolism: clinical and experimental, 1969, Volume: 18, Issue:8

    Topics: Adolescent; Adult; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Diffuse Cerebral Sclerosis of Schilder; Female; Gaucher Disease; Glycolipids; Glycoproteins; Glycosaminoglycans; Humans; Intellectual Disability; Lysosomes; Male; Mucopolysaccharidoses; Mucopolysaccharidosis IV; Retinitis Pigmentosa; Serine; Threonine; Tryptophan

1969
[Fundamental study on the treatment of retinitis pigmentosa. 7].
    Nihon ganka kiyo, 1968, Volume: 19, Issue:1

    Topics: Adolescent; Adult; Aged; Female; Humans; Male; Middle Aged; Phenylalanine; Retinitis Pigmentosa; Tryptophan; Tyrosine

1968