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A Gly238Ser substitution in the alpha 2 chain of type I collagen results in o...

Rose(N J),Mackay(K),Byers(P H),Dalgleish(R... Hum Genet 1995-03-20

...COL1A1 and COL1A2, respectively). In this study we screened these genes in a proband presenting with the severe form (ty...

Prenatal diagnosis of collagen disorders by direct biochemical analysis of ch...

Raghunath(M),Steinmann(B),Delozier-Blanche... Pediatr Res 1995-02-08

...COL1A1 G-to-A transition (Gly355Asp). Direct collagen analysis of chorion villus biopsies labeled in toto is rapid and r...

Recurrence of osteogenesis imperfecta because of paternal mosaicism: Gly862--...

Namikawa(C),Suzumori(K),Fukushima(Y),Sasak... Hum Genet 1995-07-26

...COL1A1). The mutation was also detected in various paternal tissues; the mutant allele accounted for approximately 11% o...

Positive regulation of human alpha 1 (I) collagen promoter activity by transc...

Li(L),Artlett(C M),Jimenez(S A),Hall(D J),... Gene 1995-12-26

...COL1A1 promoter activity. These results suggest that the transcriptional activity of the human COL1A1 can be positively ...

Stimulation of alpha 1 (I) procollagen gene expression in NIH-3T3 cells by th...

Muñoz(E),Suri(D),Amini(S),Khalili(K),Jimén... J Clin Invest 1995-12-21

...COL1A1) promoter. The results indicated that the promoter activity of the -804 to bp COL1A1 fragment increased up to 12-...

Identification of regulatory elements necessary for the expression of the COL...

Thomas(H F),Feldman(J A),Bedalov(A),Woody(... Connect Tissue Res 1995-11-06

...COL1A1 gene expression. We are currently examining the regulation of COL1A1 gene expression in odontoblasts and have pro...

Reverse transcription-polymerase chain reaction detection of collagen transcr...

Hopkinson(I),Evans(W),Chant(D),Hiscox(S),B... Eur J Clin Invest 1995-11-13

The aim of this study was to analyse the expression of COl1A1, COl1A2 and COl3A1 in 6 mm diameter punch biopsies obtaine...

Analysis of regulatory regions in the COL1A1 gene responsible for 1,25-dihydr...

Pavlin(D),Bedalov(A),Kronenberg(M S),Kream... J Cell Biochem 1995-04-17

...COL1A1 gene and report the identification of a region within the COL1A1 upstream promoter (the HindIII-Pstl restriction ...

Inhibition of collagen synthesis by prostaglandins in the immortalized rat os...

Fall(P M),Breault(D T),Raisz(L G) J Bone Miner Res 1995-03-30

...COL1A1 promoter-CAT reporter constructs, although these showed somewhat smaller effects of prostanoids on CAT activity t...

Three unrelated individuals with perinatally lethal osteogenesis imperfecta r...

Rose(N J),Mackay(K),De Paepe(A),Steinmann(... Hum Genet 1994-12-15

...COL1A1 and COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a...

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