Molecular defects in the chondrodysplasias.
There has been a recent explosion of knowledge concerning the biochemical and molecular defects in the skeletal dysplasias. Through both the candidate gene approach and positional cloning, specific gene defects that produce the skeletal dysplasias have been identified and may be classified into several general categories: 1) qualitative or quantitative abnormalities in the structural proteins of cartilage; 2) inborn errors of cartilage metabolism; 3) defects in local regulators of cartilage growth; and 4) systemic defects influencing cartilage development.
Rimoin
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Cedars Sinai Medical Center, UCLA School of Medicine, USA.
D000243:Adenosine Deaminase / Q000172:deficiency; D001192:Arylsulfatases / Q000235:genetics; D002356:Cartilage / Q000254:growth & development / Q000378:metabolism; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003094:Collagen / Q000235:genetics*; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D044162:Parathyroid Hormone-Related Protein; D018901:Peroxisomal Disorders / Q000235:genetics; D011505:Protein-Tyrosine Kinases; D011506:Proteins / Q000235:genetics; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D016511:Severe Combined Immunodeficiency / Q000235:genetics
C470121:PTHLH protein, human; D044162:Parathyroid Hormone-Related Protein; D011506:Proteins; D017468:Receptors, Fibroblast Growth Factor; D003094:Collagen; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D001192:Arylsulfatases; D000243:Adenosine Deaminase