...COL1A1 and COL1A2 genes, the pathogenesis of this severe disorder of connective tissue remains largely unknown.
...COL1A1 gene on chromosome 17 and the PDGFB gene on chromosome 22. Out of our series of 16 DPs, we detected an extra ring...
...COL1A1 transcription in normal human dermal fibroblasts. Transient transfection studies revealed that 85% of the basal C...
To examine the relationship between a common polymorphism within intron 1 of the COL1A1 gene and osteoporosis in a neste...
...COL1A1 allele (null-allele). Owing to the lack of mutant mRNA, genomic screening of the COL1A1 and COL1A2 genes is requi...
...COL1A1 genomic sequence (GenBank AF017178) was found in three unrelated patients, during the search for OI causal mutati...
...COL1A1) mRNA containing nonsense mutations that normally resulted in mutant mRNA degradation. Stabilisation of mutant mi...
...col1a1 gene up-regulation. We transfected HSC with chimeric plasmids driven by different segments of the mouse col1a1 pr...
...Col1a1 that are resistant to collagenase cleavage of type I collagen. Human PTH(1-34) was injected subcutaneously over t...
...COL1A1 and PDGFB sequences. This is the first case of DFSP with multiple copies of COL1A1 and PDGFB not confined to ring...
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