cysteine has been researched along with Chondrodystrophic Myotonia in 19 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 12 (63.16) | 18.2507 |
| 2000's | 4 (21.05) | 29.6817 |
| 2010's | 2 (10.53) | 24.3611 |
| 2020's | 1 (5.26) | 2.80 |
| Authors | Studies |
|---|---|
| Arques, MDC; Charlton, SH; Cheung, K; Falconer, AMD; Janciauskiene, S; Lin, H; Rankin, KS; Refaie, R; Rowan, AD; Wilkinson, DJ; Wright, HL; Yamamoto, K; Young, DA | 1 |
| Al-Shammary, A; Al-Zaidan, H; Faiyaz-Ul-Haque, M; Faqeih, EA; Zaidi, SH | 1 |
| Bonafé, L; Brenner, RE; Hinrichs, T; Mattes, T; Scheiderer, WD; Superti-Furga, A | 1 |
| Dawson, PA | 1 |
| Furui, S; Hatanaka, Y; Kaminaga, T; Takeshita, T; Tatsumi, T | 1 |
| Abe, LM; Carlson, KM; Carpenter, C; Hsia, YE; Marchuk, DA; Perry, AK; Person, DA; Raney, EM; Reinker, KA; Yamaga, KM | 1 |
| Bonaventure, J; Cormier-Daire, V; Gibbs, L; Heuertz, S; Le Merrer, M; Legeai-Mallet, L; Wright, M; Zabel, B | 1 |
| Bogaert, R; Cohn, DH; Eyre, DR; Lachman, RS; Polumbo, PA; Rimoin, DL; Tiller, GE; Weis, MA | 1 |
| Bateman, JF; Chan, D; Cole, WG; Rogers, JF | 1 |
| Diaz-Valdez, M; Falasca, GF; Jimenez, SA; Neumann, G; Passano, GM; Reginato, AJ; Williams, CJ | 1 |
| Bai, Y; Cook, ME; Orth, MW | 1 |
| Bai, Y; Cook, ME; Sunde, ML | 1 |
| Buxton, P; Considine, EL; Harrison, D; Jimenez, S; Knowlton, RG; Neumann, G; Prockop, DJ; Reginato, A; Williams, CJ | 1 |
| Chan, D; Cole, WG; Taylor, TK | 1 |
| Bateman, JF; Chan, D; McGill, J; Mundlos, S | 1 |
| Costa, T; Erlacher, L; Kilpatrick, MW; Lembessis, P; Lin, K; Luyten, FP; Thomas, JT; Tsipouras, P | 1 |
| Bonaventure, J; Cetta, G; Delezoide, AL; Rossi, A; Superti-Furga, A | 1 |
| Ida, A; Koyama, K; Nakata, Y; Sawai, H | 1 |
| Bai, Y; Cook, ME; Orth, MW; Zeytun, IH | 1 |
1 review(s) available for cysteine and Chondrodystrophic Myotonia
| Article | Year |
|---|---|
Sulfate in fetal development.
Topics: Adult; Cartilage; Child; Cysteine; Developmental Biology; Embryo, Mammalian; Female; Fetal Development; Fetus; Humans; Infant, Newborn; Infant, Newborn, Diseases; Membrane Transport Proteins; Methionine; Osteochondrodysplasias; Phosphoadenosine Phosphosulfate; Pregnancy; Proteoglycans; Sulfatases; Sulfate Transporters; Sulfates; Sulfotransferases | 2011 |
18 other study(ies) available for cysteine and Chondrodystrophic Myotonia
| Article | Year |
|---|---|
Matrix metalloproteinase-13 is fully activated by neutrophil elastase and inactivates its serpin inhibitor, alpha-1 antitrypsin: Implications for osteoarthritis.
Topics: alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Cysteine; Humans; Inflammation; Leukocyte Elastase; Matrix Metalloproteinase 13; Matrix Metalloproteinase 3; Neutrophils; Osteoarthritis; Osteochondrodysplasias; Synovitis | 2022 |
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.
Topics: Amino Acid Sequence; Animals; Child; Child, Preschool; Cysteine; DNA Mutational Analysis; Female; Growth Differentiation Factor 5; Humans; Male; Molecular Sequence Data; Musculoskeletal Abnormalities; Mutation, Missense; Osteochondrodysplasias; Pedigree; Sequence Alignment | 2008 |
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
Topics: Adult; Amino Acid Substitution; Anion Transport Proteins; Cysteine; Genes, Recessive; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Knee Dislocation; Male; Mutation; Orthopedic Procedures; Osteochondrodysplasias; Patella; Phenotype; Serine; Sulfate Transporters; Treatment Outcome | 2010 |
Regional cerebral blood flow in a patient with Nasu-Hakola disease.
Topics: Adult; Brain; Cerebrovascular Circulation; Chromosome Disorders; Cysteine; Dementia, Vascular; Female; Humans; Lipodystrophy; Memory Disorders; Organotechnetium Compounds; Osteochondrodysplasias; Radionuclide Imaging; Radiopharmaceuticals; Syndrome | 2005 |
Precocious osteoarthritis in a family with recurrent COL2A1 mutation.
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 |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
Topics: Achondroplasia; Amino Acid Sequence; Bone and Bones; Cysteine; Female; Humans; Male; Mutation; Osteochondrodysplasias; Pedigree; Radiography; Receptor, Fibroblast Growth Factor, Type 3 | 2006 |
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
Topics: Adult; Base Sequence; Child; Collagen; Cysteine; DNA Mutational Analysis; DNA, Complementary; Female; Genes, Dominant; Glycine; Humans; Infant, Newborn; Male; Molecular Sequence Data; Osteochondrodysplasias; Pedigree; Phenotype; Point Mutation | 1995 |
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita.
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
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 |
Factors influencing growth plate cartilage turnover.
Topics: Animals; Bone Remodeling; Chelating Agents; Chickens; Copper; Cysteine; Growth Plate; Models, Biological; Molybdenum; Osteochondrodysplasias; Poultry Diseases; Tibia | 1994 |
Molybdenum but not copper counteracts cysteine-induced tibial dyschondroplasia in broiler chicks.
Topics: Animals; Chickens; Copper; Cysteine; Female; Male; Molybdenum; Osteochondrodysplasias; Poultry Diseases; Tibia | 1994 |
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1).
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.
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 |
An alpha 1(II) Gly913 to Cys substitution prevents the matrix incorporation of type II collagen which is replaced with type I and III collagens in cartilage from a patient with hypochondrogenesis.
Topics: Adult; Amino Acid Sequence; Cartilage; Cloning, Molecular; Collagen; Cysteine; Extracellular Matrix; Female; Glycine; Heterozygote; Humans; Infant, Newborn; Male; Molecular Sequence Data; Osteochondrodysplasias; Phenotype; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Protein Structure, Secondary; Radiography; RNA Processing, Post-Transcriptional | 1996 |
Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
Topics: Amino Acid Sequence; Animals; Base Sequence; Bone Morphogenetic Proteins; Conserved Sequence; COS Cells; Cysteine; Dwarfism; Female; Fingers; Genes, Dominant; Genes, Recessive; Growth Differentiation Factor 5; Growth Substances; Hand Deformities, Congenital; Heterozygote; Humans; Male; Morphogenesis; Osteochondrodysplasias; Pedigree; Point Mutation; Recombinant Proteins; Transfection; Tyrosine | 1997 |
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
Topics: Anion Transport Proteins; Biological Transport; Carrier Proteins; Cells, Cultured; Chondrocytes; Chondroitin Sulfates; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Cysteine; Disaccharides; Electrophoresis, Agar Gel; Fetal Diseases; Fetus; Growth Plate; Humans; Membrane Transport Proteins; Osteochondrodysplasias; Polymorphism, Restriction Fragment Length; Proteoglycans; Sulfate Transporters; Sulfates | 1997 |
Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.
Topics: Adult; Amino Acid Substitution; Codon; Collagen; Cysteine; DNA; DNA Mutational Analysis; Female; Humans; Mutation, Missense; Osteochondrodysplasias; Pedigree; Polymerase Chain Reaction; Tyrosine | 1998 |
Excess levels of cysteine and homocysteine induce tibial dyschondroplasia in broiler chicks.
Topics: Ammonium Sulfate; Animals; Body Weight; Chickens; Copper; Cysteine; Female; Homocysteine; Homocystine; Male; Osteochondrodysplasias; Poultry Diseases; Random Allocation; Tibia | 1992 |