Compounds > arginine

arginine and Chondrodystrophic Myotonia

arginine has been researched along with Chondrodystrophic Myotonia in 14 studies

Research

Studies (14)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's8 (57.14)18.2507
2000's6 (42.86)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ballhausen, D; Bellus, G; Bonafé, L; Classen, M; Cohn, DH; Cole, WG; Hamel, BC; Hecht, JT; Spranger, J; Superti-Furga, A; Terhal, P; Unger, SL; Zabel, B1
Maurer, P; Nitsche, DP; Paulsson, M; Spitznagel, L; Zaucke, F1
Bastepe, M; Gillis, D; Jüppner, H; Raas-Rothschild, A; Silver, J; Weissman, I; Wientroub, S1
Block, D; Bökenkamp, A; deJong, M; Ludwig, M; van Hagen, JM; van Wijk, JA1
Abe, LM; Carlson, KM; Carpenter, C; Hsia, YE; Marchuk, DA; Perry, AK; Person, DA; Raney, EM; Reinker, KA; Yamaga, KM1
Boerkoel, CF; Clewing, JM; Das, AM; Ehrich, JH; Kanzelmeyer, NK; Lücke, T; Tsikas, D; Vaske, B1
Bateman, JF; Chan, D; Cole, WG; Rogers, JF1
Diaz-Valdez, M; Falasca, GF; Jimenez, SA; Neumann, G; Passano, GM; Reginato, AJ; Williams, CJ1
Buxton, P; Considine, EL; Harrison, D; Jimenez, S; Knowlton, RG; Neumann, G; Prockop, DJ; Reginato, A; Williams, CJ1
Chan, D; Cole, WG; Taylor, TK1
Ala-Kokko, L; Kaitila, I; Körkkö, J; Marttinen, E1
Ezquieta Zubicaray, B; González Gancedo, P; Gracia Bouthelier, R; Iguacel, AO; Jariego Fente, CM; Varela Junquera, JM1
Dillon, MJ; Hunzelman, J; Jüppner, H; Langman, C; Le Merrer, M; Loke, KY; Schipani, E; Silve, C1
Dharmavaram, RM; Jimenez, SA; Peng, M; Strawbridge, RR1

Other Studies

14 other study(ies) available for arginine and Chondrodystrophic Myotonia

ArticleYear
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
    Journal of medical genetics, 2003, Volume: 40, Issue:1

    Topics: Adolescent; Adult; Amino Acid Substitution; Anion Transport Proteins; Arginine; Biological Transport; Carrier Proteins; Child; Chromosome Mapping; Female; Genes, Recessive; Homozygote; Humans; Male; Membrane Transport Proteins; Middle Aged; Mutation; Osteochondrodysplasias; Phenotype; Sulfate Transporters; Sulfates; Tryptophan

2003
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP).
    The Biochemical journal, 2004, Jan-15, Volume: 377, Issue:Pt 2

    Topics: Arginine; Binding Sites; Cartilage Oligomeric Matrix Protein; Cell Line; Collagen; Extracellular Matrix Proteins; Genetic Predisposition to Disease; Glycoproteins; Histidine; Humans; Matrilin Proteins; Mutation; Osteochondrodysplasias; Protein Conformation; Protein Structure, Tertiary

2004
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.
    The Journal of clinical endocrinology and metabolism, 2004, Volume: 89, Issue:7

    Topics: Adult; Amino Acid Substitution; Animals; Arginine; Body Height; Bone and Bones; Calcium; Child; Child, Preschool; Chlorocebus aethiops; COS Cells; Cyclic AMP; Humans; Kidney Calculi; Male; Mutation; Osteochondrodysplasias; Parathyroid Hormone; Pedigree; Radiography; Receptor, Parathyroid Hormone, Type 1; Threonine

2004
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
    Pediatric nephrology (Berlin, Germany), 2005, Volume: 20, Issue:12

    Topics: Amino Acid Motifs; Amino Acid Sequence; Amino Acid Substitution; Angiotensin II Type 1 Receptor Blockers; Angiotensin-Converting Enzyme Inhibitors; Arginine; Base Sequence; Biopsy; Child; Consanguinity; DNA Helicases; DNA Mutational Analysis; Enalapril; Exons; Follow-Up Studies; Genes, Recessive; Genetic Linkage; Homozygote; Humans; Kidney; Losartan; Male; Molecular Sequence Data; Mutation, Missense; Nephrotic Syndrome; Osteochondrodysplasias; Pedigree; Protein Structure, Tertiary; Radiography; Sequence Homology, Amino Acid; Time Factors; Treatment Outcome; Turkey

2005
Precocious osteoarthritis in a family with recurrent COL2A1 mutation.
    The Journal of rheumatology, 2006, Volume: 33, Issue:6

    Topics: Arginine; Collagen Type II; Cysteine; Family Health; Female; Genetic Predisposition to Disease; Genetic Testing; Humans; Male; Microsatellite Repeats; Mutation, Missense; Osteoarthritis, Hip; Osteoarthritis, Knee; Osteochondrodysplasias; Pedigree; Polymerase Chain Reaction; Radiography

2006
Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved?
    Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme, 2006, Volume: 38, Issue:10

    Topics: Adolescent; Adult; Arginine; Arterial Occlusive Diseases; Atherosclerosis; Child; Child, Preschool; Female; Glomerulosclerosis, Focal Segmental; Humans; Male; Nephrotic Syndrome; Nitrates; Nitric Oxide; Nitric Oxide Synthase; Nitrites; Osteochondrodysplasias

2006
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
    The Journal of rheumatology. Supplement, 1995, Volume: 43

    Topics: Amino Acid Sequence; Arginine; Base Sequence; Child, Preschool; Collagen; Cysteine; Humans; Molecular Sequence Data; Mutation; Osteochondrodysplasias; Polymerase Chain Reaction; Procollagen; Restriction Mapping

1995
Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findin
    Arthritis and rheumatism, 1994, Volume: 37, Issue:7

    Topics: Adult; Arginine; Chile; Cysteine; DNA; Female; Foot Deformities, Congenital; Hand; Hand Deformities, Congenital; Hip; Humans; Knee; Leukocytes; Osteoarthritis; Osteochondrodysplasias; Pedigree; Point Mutation; Polymerase Chain Reaction; Procollagen; Radiography

1994
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
    Human genetics, 1993, Volume: 92, Issue:5

    Topics: Adolescent; Adult; Age of Onset; Aged; Amino Acid Sequence; Arginine; Base Sequence; Child; Cysteine; DNA Mutational Analysis; DNA Primers; Female; Genetic Linkage; Humans; Male; Middle Aged; Molecular Sequence Data; Osteoarthritis; Osteochondrodysplasias; Pedigree; Point Mutation; Polymerase Chain Reaction; Procollagen

1993
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
    The Journal of biological chemistry, 1993, Jul-15, Volume: 268, Issue:20

    Topics: Amino Acid Sequence; Arginine; Base Sequence; Cartilage; Cells, Cultured; Child, Preschool; Collagen; Cysteine; DNA; DNA Mutational Analysis; Female; Fibroblasts; Humans; Molecular Sequence Data; Mutation; Osteochondrodysplasias; RNA, Messenger; Skin

1993
Phenotypic expressions of a Gly 154Arg mutation in type II collagen in two unrelated patients with spondyloepimetaphyseal dysplasia (SEMD).
    American journal of medical genetics, 1996, May-03, Volume: 63, Issue:1

    Topics: Adult; Aging; Amino Acid Sequence; Arginine; Base Sequence; Bone and Bones; Bone Development; Collagen; Female; Genotype; Glycine; Humans; Infant, Newborn; Male; Molecular Sequence Data; Osteochondrodysplasias; Pedigree; Phenotype; Point Mutation; Polymerase Chain Reaction; Radiography; Spine

1996
[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].
    Medicina clinica, 1999, Mar-06, Volume: 112, Issue:8

    Topics: Achondroplasia; Arginine; Asparagine; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 4; Genetic Counseling; Glycine; Humans; Lysine; Osteochondrodysplasias; Phenotype; Point Mutation; Protein-Tyrosine Kinases; Receptors, Fibroblast Growth Factor; RNA, Transfer, Amino Acid-Specific; Spain

1999
A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.
    The Journal of clinical endocrinology and metabolism, 1999, Volume: 84, Issue:9

    Topics: Animals; Arginine; Child; Child, Preschool; COS Cells; Cyclic AMP; Female; Heterozygote; Humans; Infant; Inositol Phosphates; Isoleucine; Male; Mutation; Mutation, Missense; Osteochondrodysplasias; Parathyroid Hormone; Receptor, Parathyroid Hormone, Type 1; Receptors, Parathyroid Hormone; Transfection

1999
Polymerase chain reaction--amplification of the coding sequence of the type X collagen gene from genomic DNA and identification of a polymorphism that changes Gly to Arg at position 545 by single-strand conformation polymorphism analysis.
    Biochemical and biophysical research communications, 1992, Aug-31, Volume: 187, Issue:1

    Topics: Arginine; Base Sequence; Collagen; DNA; Glycine; Humans; Molecular Sequence Data; Nucleic Acid Conformation; Osteochondrodysplasias; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic

1992