Compounds > cysteine

cysteine and Dwarfism, Thanatophoric

cysteine has been researched along with Dwarfism, Thanatophoric in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's5 (62.50)18.2507
2000's3 (37.50)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Flanagan, S; Glass, IA; Hayes, M; Hyland, VJ; Masel, J; Robertson, SP; Roscioli, T; Savarirayan, R1
Cohn, DH; Rimoin, DL; Shiang, R; Tavormina, PL; Wasmuth, JJ; Zhu, YZ1
Bonaventure, J; Freisinger, P; Nerlich, AG1
Bonaventure, J; Delezoide, AL; el Ghouzzi, V; Le Merrer, M; Legeai-Mallet, L; Munnich, A; Rousseau, F1
Kitoh, H; Krakow, D; Lachman, RS; Rimoin, DL; Tavormina, PL; Thompson, LM; Wasmuth, JJ; Wilcox, WR1
Brodie, SG; Kitoh, H; Lipson, M; Sifry-Platt, M; Wilcox, WR1
Adar, R; David, P; Monsonego-Ornan, E; Yayon, A1
Kruczek, A; Kruczek, P; Mitkowska, Z; Pietrzyk, JJ1

Other Studies

8 other study(ies) available for cysteine and Dwarfism, Thanatophoric

ArticleYear
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.
    American journal of medical genetics. Part A, 2003, Jul-15, Volume: 120A, Issue:2

    Topics: Acanthosis Nigricans; Body Height; Bone Diseases, Developmental; Chromatography, High Pressure Liquid; Cysteine; Female; Heterozygote; Humans; Hyperplasia; Middle Aged; Mosaicism; Musculoskeletal Abnormalities; Mutation, Missense; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; Thanatophoric Dysplasia

2003
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
    Human molecular genetics, 1995, Volume: 4, Issue:11

    Topics: Amino Acid Sequence; Base Composition; Base Sequence; Binding Sites; Cysteine; DNA; Humans; Molecular Sequence Data; Point Mutation; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Thanatophoric Dysplasia

1995
Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
    American journal of medical genetics, 1996, May-03, Volume: 63, Issue:1

    Topics: Adult; Arginine; Bone and Bones; Cartilage; Cysteine; Diagnosis, Differential; Female; Fetus; Genetic Variation; Gestational Age; Humans; Infant, Newborn; Phenotype; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Pregnancy; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Thanatophoric Dysplasia; Tyrosine

1996
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
    Human molecular genetics, 1996, Volume: 5, Issue:4

    Topics: Base Sequence; Cysteine; DNA Mutational Analysis; DNA Primers; Histology; Humans; Molecular Sequence Data; Mutation; Protein-Tyrosine Kinases; Radiology; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Thanatophoric Dysplasia

1996
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
    American journal of medical genetics, 1998, Jul-07, Volume: 78, Issue:3

    Topics: Chondrocytes; Craniosynostoses; Cysteine; Femur; Fetus; Genotype; Gestational Age; Growth Plate; Humans; Infant, Newborn; Mutation; Phenotype; Point Mutation; Polymerase Chain Reaction; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Registries; Skull; Spine; Thanatophoric Dysplasia

1998
Thanatophoric dysplasia type I with syndactyly.
    American journal of medical genetics, 1998, Nov-16, Volume: 80, Issue:3

    Topics: Cysteine; Fetal Diseases; Humans; Male; Point Mutation; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndactyly; Thanatophoric Dysplasia; Tyrosine

1998
Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.
    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2002, Volume: 17, Issue:5

    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
[Thanatophoric dysplasia: three patients hospitalized in PAIP in 1994-2000].
    Przeglad lekarski, 2002, Volume: 59 Suppl 1

    Topics: Arginine; Cysteine; DNA Mutational Analysis; Fatal Outcome; Hospitalization; Humans; Infant, Newborn; Male; Point Mutation; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Thanatophoric Dysplasia

2002