Compounds > glutamic acid

glutamic acid and Ehlers-Danlos Syndrome

glutamic acid has been researched along with Ehlers-Danlos Syndrome in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's4 (80.00)18.2507
2000's0 (0.00)29.6817
2010's1 (20.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Baker, D; Brady, AF; Burrows, N; Cervi, E; Cilliers, D; Frank, M; Germain, DP; Ghali, N; Hulmes, DJS; Jacquemont, ML; Kannu, P; Lefroy, H; Legrand, A; Pope, FM; Robertson, L; van Dijk, FS; Vandersteen, A; von Klemperer, K; Warburton, R; Whiteford, M1
Gustavson, KH; Kuivaniemi, H; Madhatheri, SL; Tromp, G1
Earley, JJ; Kuivaniemi, H; Narcisi, P; Pope, FM; Richards, AJ; Tromp, G; Wu, Y1
Lloyd, JC; Narcisi, P; Nicholls, AC; Pope, FM; Richards, AJ; Ward, PN1
Hopkinson, DA; Johnson, PH; Pope, FM; Richards, AJ1

Other Studies

5 other study(ies) available for glutamic acid and Ehlers-Danlos Syndrome

ArticleYear
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2019, Volume: 21, Issue:9

    Topics: Adult; Aged; Collagen Type III; Ehlers-Danlos Syndrome; Female; Glutamic Acid; Glycine; High-Throughput Nucleotide Sequencing; Humans; Lysine; Male; Middle Aged; Mutation; Pedigree; Phenotype; Skin Abnormalities

2019
Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
    Human molecular genetics, 1994, Volume: 3, Issue:3

    Topics: Adolescent; Adult; DNA Mutational Analysis; Ehlers-Danlos Syndrome; Female; Glutamates; Glutamic Acid; Glycine; Humans; Male; Pedigree; Phenotype; Procollagen

1994
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV.
    American journal of medical genetics, 1993, May-15, Volume: 46, Issue:3

    Topics: Adult; Aortic Aneurysm, Abdominal; Aortic Dissection; Aortic Rupture; Base Sequence; DNA Mutational Analysis; Ehlers-Danlos Syndrome; Electrophoresis, Polyacrylamide Gel; Female; Fibroblasts; Glutamates; Glutamic Acid; Glycine; Humans; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Procollagen; RNA, Messenger

1993
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.
    Human genetics, 1992, Volume: 89, Issue:4

    Topics: Amino Acid Sequence; Base Sequence; Blotting, Southern; Cells, Cultured; Cloning, Molecular; Collagen; Ehlers-Danlos Syndrome; Glutamates; Glutamic Acid; Glycine; Humans; Molecular Sequence Data; Mosaicism; Mutation; Oligonucleotide Probes

1992
A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
    Journal of inherited metabolic disease, 1992, Volume: 15, Issue:3

    Topics: Adult; Base Sequence; Cloning, Molecular; Collagen; DNA; Ehlers-Danlos Syndrome; Electrophoresis; Female; Glutamates; Glutamic Acid; Glycine; Humans; Molecular Sequence Data; Mutation; Nucleic Acid Denaturation; Nucleic Acid Heteroduplexes; Polymerase Chain Reaction

1992