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Page last updated: 2024-08-17

lysine and Ehlers-Danlos Syndrome

lysine has been researched along with Ehlers-Danlos Syndrome in 23 studies

Research

Studies (23)

TimeframeStudies, this research(%)All Research%
pre-199014 (60.87)18.7374
1990's2 (8.70)18.2507
2000's4 (17.39)29.6817
2010's2 (8.70)24.3611
2020's1 (4.35)2.80

Authors

AuthorsStudies
Bellone, RR; de Mestre, AM; Foote, AK; Grillos, AS; Kinglsey, NB; Mienaltowski, MJ; Roach, JM1
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
Bank, RA; Gjaltema, RA1
Eyre, D; Shao, P; Steinmann, B; Weis, MA1
Mochida, Y; Tanzawa, H; Uzawa, K; Yamamoto, K; Yamauchi, M; Yeowell, HN1
Atsawasuwan, P; Bristow, J; Cabral, WA; Marini, JC; Overstreet, MA; Pals, G; Walker, LC; Willing, MC; Yamauchi, M; Yeowell, HN1
Atsawasuwan, P; De Paepe, A; Malfait, F; Marini, JC; Teebi, AS; Walker, LC; Yamauchi, M; Yeowell, HN1
Murad, S; Pinnell, SR; Tajima, S1
Edel, G; Feldmann, U; Glanville, RW; Ihme, A; Krieg, T; Müller, PK; Nerlich, A; Rauterberg, J1
Hayakawa, T; Ishikawa, Y; Minami, R; Nagaoka, M; Okabe, M; Wakai, S1
Dembure, PP; Elsas, LJ; Evinger, JD; Longo, N; Pasquali, M; Rosen, RI; Still, MJ; Vales, T1
Krane, SM; Quinn, RS1
Pinnell, SR1
McKusick, VA1
Gitzelmann, R; Grant, ME; Harwood, R; Sear, CH; Steinmann, B; Vogel, A1
Berbis, P; Chamson, A; Fabre, JF; Frey, J; Privat, Y1
Halila, R; Peltonen, L; Ryhänen, L1
Layman, DL; Martin, GR; Narayanan, AS1
Erbe, RW; Krane, SM; Pinnell, SR1
Lapiere, CH1
Lichtenstein, JR; Martin, GR; McKusick, VA; Nigra, TP; Sussman, M1
Böhmer, T1
Heilmann, K; Nemetschek, T; Völkl, A1

Reviews

5 review(s) available for lysine and Ehlers-Danlos Syndrome

ArticleYear
Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease.
    Critical reviews in biochemistry and molecular biology, 2017, Volume: 52, Issue:1

    Topics: Animals; Arthrogryposis; Connective Tissue Diseases; Ehlers-Danlos Syndrome; Fibrillar Collagens; Glycosylation; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Lysine; Osteogenesis Imperfecta; Proline; Protein Folding

2017
Abnormal collagens in connective tissue diseases.
    Birth defects original article series, 1975, Volume: 11, Issue:6

    Topics: Adolescent; Chemical Phenomena; Chemistry; Collagen; Collagen Diseases; Complement C1; Ehlers-Danlos Syndrome; Female; Humans; Hydroxylysine; Infant; Ketoglutaric Acids; Lysine; Mixed Function Oxygenases; Phenotype; Solubility

1975
Enzymes converting procollagens to collagens.
    Journal of cellular biochemistry, 1985, Volume: 28, Issue:1

    Topics: Animals; Bone Morphogenetic Protein 1; Bone Morphogenetic Proteins; Cattle; Chick Embryo; Collagen; Ehlers-Danlos Syndrome; Endopeptidases; Humans; Lysine; Metalloendopeptidases; Mice; Osteogenesis Imperfecta; Procollagen; Procollagen N-Endopeptidase; Protease Inhibitors; Protein Processing, Post-Translational

1985
The molecular basis of connective tissue pathology.
    The British journal of dermatology, 1973, Volume: 89, Issue:1

    Topics: Animals; Basement Membrane; Cattle; Collagen; Connective Tissue; Ehlers-Danlos Syndrome; Elastin; Epidermolysis Bullosa; Fibroblasts; Glycopeptides; Humans; Keloid; Lysine; Marfan Syndrome; Metabolism, Inborn Errors; Microbial Collagenase; Mixed Function Oxygenases; Progeria; Protein Biosynthesis; Pseudoxanthoma Elasticum; Wound Healing

1973
The biosynthesis of collagen.
    Acta rheumatologica Scandinavica, 1971, Volume: 17, Issue:3

    Topics: Acromegaly; Ascorbic Acid Deficiency; Carbon Isotopes; Collagen; Ehlers-Danlos Syndrome; Hydroxylation; Hydroxyproline; Hypothyroidism; Lysine; Marfan Syndrome; Oxygen Consumption; Proline; Vitamin D Deficiency

1971

Other Studies

18 other study(ies) available for lysine and Ehlers-Danlos Syndrome

ArticleYear
First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A.
    Equine veterinary journal, 2022, Volume: 54, Issue:6

    Topics: Animals; Collagen; Dioxygenases; Ehlers-Danlos Syndrome; Horse Diseases; Horses; Humans; Ketoglutaric Acids; Lysine; Procollagen; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

2022
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
The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.
    Molecular genetics and metabolism, 2002, Volume: 76, Issue:3

    Topics: Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Collagen Type I; Collagen Type II; Ehlers-Danlos Syndrome; Female; Humans; Hydroxylation; Lysine

2002
Lysine hydroxylation of collagen in a fibroblast cell culture system.
    Biochemical and biophysical research communications, 2003, Jun-06, Volume: 305, Issue:3

    Topics: Adult; Cells, Cultured; Child, Preschool; Collagen Type I; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Hydroxylation; Lysine; Male; Protein Structure, Tertiary; Skin

2003
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation.
    American journal of medical genetics. Part A, 2004, Dec-01, Volume: 131, Issue:2

    Topics: Cell Line; Collagen; Cross-Linking Reagents; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Lysine; Male; Phenotype; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; RNA, Messenger

2004
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
    Molecular genetics and metabolism, 2004, Volume: 83, Issue:4

    Topics: Cell Line; Child; Child, Preschool; Collagen; DNA, Complementary; Ehlers-Danlos Syndrome; Female; Fibroblasts; Gene Expression Regulation, Enzymologic; Humans; Hydroxylation; Lysine; Mutation; Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase; Promoter Regions, Genetic; Sequence Analysis, DNA; Skin

2004
A comparison of lysyl hydroxylation in various types of collagen from type VI Ehlers-Danlos syndrome fibroblasts.
    Collagen and related research, 1983, Volume: 3, Issue:6

    Topics: Adult; Collagen; Ehlers-Danlos Syndrome; Fibroblasts; Humans; Hydroxylation; Lysine; Middle Aged; Procollagen; Proline

1983
Ehlers-Danlos syndrome type VI: collagen type specificity of defective lysyl hydroxylation in various tissues.
    The Journal of investigative dermatology, 1984, Volume: 83, Issue:3

    Topics: Adult; Amino Acid Sequence; Bone and Bones; Chromatography, DEAE-Cellulose; Collagen; Ehlers-Danlos Syndrome; Humans; Hydroxylation; Kidney; Lysine; Male; Skin; Tendons

1984
Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case.
    Journal of the neurological sciences, 1993, Volume: 116, Issue:1

    Topics: Adult; Atrophy; Calcium; Ceruloplasmin; Copper; Dopamine beta-Hydroxylase; Ehlers-Danlos Syndrome; Elastin; Electron Transport Complex IV; Humans; Lysine; Male; Monoamine Oxidase; Muscles; Occipital Lobe; Protein-Lysine 6-Oxidase; Radiography; Skin

1993
Abnormal formation of collagen cross-links in skin fibroblasts cultured from patients with Ehlers-Danlos syndrome type VI.
    Proceedings of the Association of American Physicians, 1997, Volume: 109, Issue:1

    Topics: Adolescent; Amino Acids; Ascorbic Acid; Cells, Cultured; Child; Collagen; Cross-Linking Reagents; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Hydroxylysine; Lysine; Pyridinium Compounds; Skin

1997
Collagen synthesis by cultured skin fibroblasts from siblings with hydroxylysine-deficient collagen.
    Biochimica et biophysica acta, 1979, Jul-18, Volume: 585, Issue:4

    Topics: Ascorbic Acid; Collagen; Ehlers-Danlos Syndrome; Fibroblasts; Humans; Hydroxylation; Hydroxylysine; Hydroxyproline; Lysine; Proline; Skin

1979
Editorial notes: Molecular defects in collagen.
    Annals of internal medicine, 1975, Volume: 82, Issue:4

    Topics: Amino Acid Oxidoreductases; Collagen; Ehlers-Danlos Syndrome; Humans; Ketoglutaric Acids; Lysine; Mixed Function Oxygenases; Molecular Conformation; Peptide Hydrolases

1975
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.
    Helvetica paediatrica acta, 1975, Volume: 30, Issue:3

    Topics: Adolescent; Adult; Cells, Cultured; Collagen; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Hydroxylysine; Ketoglutaric Acids; Lysine; Male; Mixed Function Oxygenases; Pedigree; Skin

1975
Collagen biosynthesis and isomorphism in a case of Ehlers-Danlos syndrome type VI.
    Archives of dermatological research, 1987, Volume: 279, Issue:5

    Topics: Adult; Cells, Cultured; Collagen; Ehlers-Danlos Syndrome; Fibroblasts; Humans; Hydroxylation; Kinetics; Lysine; Male; Skin

1987
The production of lysyl oxidase by human fibroblasts in culture.
    Archives of biochemistry and biophysics, 1972, Volume: 149, Issue:1

    Topics: Amino Acid Oxidoreductases; Aminopropionitrile; Animals; Carbon Isotopes; Cartilage; Cells, Cultured; Chickens; Collagen; Culture Media; Ehlers-Danlos Syndrome; Elastin; Fibroblasts; Humans; Lysine; Marfan Syndrome; Procollagen-Proline Dioxygenase; Proline; Skin; Tritium

1972
Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen.
    Proceedings of the National Academy of Sciences of the United States of America, 1972, Volume: 69, Issue:10

    Topics: Adolescent; Adult; Amino Acids; Cells, Cultured; Child; Collagen; Consanguinity; Ehlers-Danlos Syndrome; Female; Fibroblasts; Humans; Hydrogen-Ion Concentration; Hydroxylysine; L-Lactate Dehydrogenase; Lysine; Male; Metabolism, Inborn Errors; Methyltransferases; Mixed Function Oxygenases; Procollagen-Proline Dioxygenase; Proline; Protein Precursors; Serine; Skin; Time Factors

1972
Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome.
    The Journal of bone and joint surgery. American volume, 1974, Volume: 56, Issue:6

    Topics: Chromosome Aberrations; Chromosome Disorders; Collagen Diseases; Ehlers-Danlos Syndrome; Female; Fibroblasts; Genes, Recessive; Humans; Hydroxylysine; Ketoglutaric Acids; Lysine; Male; Middle Aged; Mixed Function Oxygenases; Pedigree; Procollagen-Proline Dioxygenase

1974
[Morphological and chemical aspects of the Ehlers-Danlos-syndrome].
    Virchows Archiv. A, Pathology. Pathologische Anatomie, 1971, Volume: 354, Issue:3

    Topics: Adult; Collagen; Connective Tissue; Ehlers-Danlos Syndrome; Elastic Tissue; Elastin; Histocytochemistry; Humans; Lysine; Male; Microscopy, Electron; Renal Artery; Rupture, Spontaneous; Skin; Vascular Diseases

1971