cysteine has been researched along with Achondroplasia in 6 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (33.33) | 18.2507 |
| 2000's | 4 (66.67) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bonaventure, J; Cormier-Daire, V; Gibbs, L; Heuertz, S; Le Merrer, M; Legeai-Mallet, L; Wright, M; Zabel, B | 1 |
| Considine, E; Gow, P; Ladda, R; McCarron, S; McLain, D; Michels, VM; Murphy, W; Prockop, DJ; Rock, M; Williams, CJ | 1 |
| Bucher, HU; Eich, G; Giedion, A; Gitzelmann, R; Steinmann, B; Superti-Furga, A; Wisser, J | 1 |
| Addor, MC; Gudinchet, F; Schorderet, DF; Truttmann, A | 1 |
| Chen, L; Deng, C; Li, C; Qiao, W; Xu, X | 1 |
| Adar, R; David, P; Monsonego-Ornan, E; Yayon, A | 1 |
6 other study(ies) available for cysteine and Achondroplasia
| Article | Year |
|---|---|
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 |
Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.
Topics: Achondroplasia; Amino Acid Sequence; Arginine; Base Composition; Base Sequence; Bone Diseases, Developmental; Cysteine; Deoxyribonucleases, Type II Site-Specific; Electrophoresis, Polyacrylamide Gel; Family Health; Female; Humans; Joint Diseases; Male; Molecular Sequence Data; Nucleic Acid Conformation; Pedigree; Point Mutation; Polymerase Chain Reaction; Procollagen; Restriction Mapping | 1995 |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
Topics: Achondroplasia; Amino Acid Sequence; Base Sequence; Cell Membrane; Chromosomes, Human, Pair 4; Cysteine; Glycine; Humans; Infant, Newborn; Male; Molecular Sequence Data; Phenotype; Point Mutation; Polymerase Chain Reaction; Radiography; Receptors, Fibroblast Growth Factor | 1995 |
An uncommon G375C substitution in a newborn with achondroplasia.
Topics: Achondroplasia; Alleles; Amino Acid Substitution; Codon; Cysteine; Glycine; Humans; Infant; Infant, Newborn; Male; Mutation, Missense; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor | 2000 |
A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
Topics: Achondroplasia; Animals; Base Sequence; Cell Differentiation; Cell Division; Chondrocytes; Cysteine; DNA Primers; Down-Regulation; Fibroblast Growth Factor 2; Gene Expression Regulation; Growth Plate; Hedgehog Proteins; In Situ Hybridization; Mice; Mutagenesis, Site-Directed; Parathyroid Hormone-Related Protein; Protein-Tyrosine Kinases; Proteins; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Serine; Signal Transduction; Trans-Activators | 2001 |
Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.
Topics: Achondroplasia; Amino Acid Substitution; Animals; Base Sequence; Cell Line; Cysteine; Dimerization; DNA, Complementary; Humans; Ligands; Phosphorylation; Point Mutation; Protein Structure, Quaternary; Protein-Tyrosine Kinases; Rats; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Recombinant Proteins; Signal Transduction; Thanatophoric Dysplasia | 2002 |