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:C0005940 (
bone disease
)
7,459
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous brittle
bone disorder
. Whereas dominant OI is mostly due to heterozygous mutations in either COL1A1 or COL1A2, encoding type I procollagen, recessive OI is caused by biallelic mutations in genes encoding proteins involved in type I procollagen processing or chaperoning. Hitherto, some OI cases remain molecularly unexplained. We detected a homozygous genomic deletion of
CREB3L1
in a family with severe OI.
CREB3L1
encodes
OASIS
, an endoplasmic reticulum-stress transducer that regulates type I procollagen expression during murine bone formation. This is the first report linking
CREB3L1
to human recessive OI, thereby expanding the OI gene spectrum.
...
PMID:Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. 2407 43
