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[Mutations of genes coding collagen type I--biochemical and clinical effects]...

Wieczorek(P),Zawierta(J),Rzeuski(R) Postepy Hig Med Dosw 2000-08-15

...COL1A1 and COL1A2 genes on biochemical properties of this protein and clinical manifestations are described.

Expression and characterization of Xenopus type I collagen alpha 1 (COL1A1) d...

Goto(T),Katada(T),Kinoshita(T),Kubota(H Y) Dev Growth Differ 2000-12-05

...COL1A1) has been isolated from an ovary cDNA library. The COL1A1 cDNA is approximately 5.7 kb pairs and encodes 1447 ami...

Osteogenesis imperfecta: prospects for molecular therapeutics.

Forlino(A),Marini(J C) Mol Genet Metab 2000-11-13

...COL1A1 or COL1A2 genes, coding, respectively, for the alpha1 and alpha2 chains of type I collagen, are the causative mut...

Alterations in the regulation of expression of the alpha 1(I) collagen gene (...

Jimenez(S A),Saitta(B) Springer Semin Immunopathol 2000-08-29

...COL1A1 in SSc cells will increase our current understanding of the pathophysiology of fibrotic diseases. These studies w...

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta ...

Raff(M L),Craigen(W J),Smith(L T),Keene(D ... Hum Genet 2000-09-22

...COL1A1 and COL1A2, the genes that encode the two subunits, cause a range of phenotypes including mild to lethal forms of...

Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of...

Slayton(R L),Deschenes(S P),Willing(M C) Matrix Biol 2000-05-02

...COL1A1 or COL1A2, the genes that encode the proalpha1(I) and proalpha2(I) chains of type I collagen, respectively. Mutat...

Association analysis of the vitamin D receptor gene, the type I collagen gene...

Loughlin(J),Sinsheimer(J S),Mustafa(Z),Car... J Rheumatol 2000-05-09

...COL1A1, with idiopathic OA.,A case-control cohort of 371 affected probands and 369 unaffected spouses was used. Associat...

Parathyroid hormone inhibits collagen synthesis and the activity of rat col1a...

Bogdanovic(Z),Huang(Y F),Dodig(M),Clark(S ... J Cell Biochem 2000-03-24

...Col1a1 promoter downstream of -1683 bp are sufficient for parathyroid hormone inhibition of the Col1a1 promoter.

Lack of a phenotype in transgenic mice aberrantly expressing COL2A1 mRNA beca...

Yuan(C M),Ala-Kokko(L),Le Guellec(D),Franc... Biochem J 2000-03-02

We reported previously that a 1.9-kb 5'-fragment from the human COL1A1 gene drove transcription of a promoterless human ...

Far upstream regulatory elements enhance position-independent and uterus-spec...

Krempen(K),Grotkopp(D),Hall(K),Bache(A),Gi... Gene Expr 2000-02-10

...Col1a1) gene, which may play a role in the regulation of this abundantly expressed gene. Here we have cloned several of ...

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