Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The molecular causes of idiopathic
scoliosis
have not yet been clarified to any appreciable extent and are probably heterogeneous. The occurrence of scolioses in congenital diseases of the connective tissue points to changes in connective tissue metabolism. Collagen is the most essential structural connective tissue component of bone. It was the aim of our investigations to examine the synthesis of collagen of Types I and II in order to identify a possible molecular defect. In the woman patient examined by the authors, a pathologically changed
alpha-chain
of the collagen of Type I was found as the probable cause of this particular case of idiopathic
scoliosis
.
...
PMID:[Defective type I collagen in a woman patient with juvenile idiopathic scoliosis (author's transl)]. 729 42