Page last updated: 2024-08-17

aspartic acid and Corneal Dystrophies

aspartic acid has been researched along with Corneal Dystrophies in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's5 (83.33)29.6817
2010's1 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bisceglia, L; De Bonis, P; Laborante, A; Longo, C1
Li, D; Lin, H; Qi, Y; Wang, L; Zhao, L; Zhou, N1
Chen, L; Gu, Y; Hu, R; Jin, F; Qi, M; Yan, X; Yang, Y; Yu, P1
Han, Q; Li, DD; Lin, H; Qi, YH; Zhang, CM; Zhao, LM1
Affeldt, JA; Aldave, AJ; Gutmark, JG; Klintworth, GK; Meallet, MA; Rao, NA; Small, KW; Udar, N; Yellore, VS1
Correa-Gomez, V; Villalvazo-Cordero, L; Zenteno, JC1

Other Studies

6 other study(ies) available for aspartic acid and Corneal Dystrophies

ArticleYear
Lattice Corneal Dystrophy-Variant: a report of three new cases due to p.V631D mutation in the TGFBI gene.
    La Clinica terapeutica, 2013, Volume: 164, Issue:1

    Topics: Aspartic Acid; Biomarkers; Corneal Dystrophies, Hereditary; Early Diagnosis; Extracellular Matrix Proteins; Humans; Point Mutation; Prognosis; Transforming Growth Factor beta; Valine

2013
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
    Molecular vision, 2008, Jul-11, Volume: 14

    Topics: Adult; Amino Acid Sequence; Amino Acid Substitution; Aspartic Acid; Base Sequence; Cornea; Corneal Dystrophies, Hereditary; DNA Mutational Analysis; Exons; Extracellular Matrix Proteins; Female; Glycine; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Transforming Growth Factor beta

2008
p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I.
    Genetic testing, 2008, Volume: 12, Issue:3

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Asian People; Aspartic Acid; Case-Control Studies; Corneal Dystrophies, Hereditary; DNA Mutational Analysis; Extracellular Matrix Proteins; Family; Female; Humans; Male; Middle Aged; Mutation, Missense; Pedigree; Transforming Growth Factor beta; Tryptophan; Young Adult

2008
[Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy].
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2009, Volume: 26, Issue:3

    Topics: Asian People; Aspartic Acid; Corneal Dystrophies, Hereditary; Corneal Stroma; Exons; Extracellular Matrix Proteins; Family; Female; Genetic Predisposition to Disease; Genotype; Glycine; Humans; Male; Pedigree; Phenotype; Sequence Analysis, DNA; Transforming Growth Factor beta

2009
Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene.
    American journal of ophthalmology, 2004, Volume: 138, Issue:5

    Topics: Adult; Alanine; Amyloid; Amyloidosis; Aspartic Acid; Cornea; Corneal Dystrophies, Hereditary; DNA Mutational Analysis; Exons; Extracellular Matrix Proteins; Female; Glutamine; Haplotypes; Humans; Mutation, Missense; Pedigree; Proline; Transforming Growth Factor beta

2004
The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.
    Molecular vision, 2007, Sep-17, Volume: 13

    Topics: Adolescent; Adult; Aged; Alanine; Aspartic Acid; Base Sequence; Child; Child, Preschool; Cornea; Corneal Dystrophies, Hereditary; Exons; Extracellular Matrix Proteins; Female; Genes, Dominant; Heterozygote; Humans; Infant; Male; Middle Aged; Pedigree; Phenotype; Point Mutation; Transforming Growth Factor beta

2007