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De Vos(A),Sermon(K),Van de Velde(H),Joris(... Hum Genet 2000-08-21

...COL1A2 gene, which results in an abnormal gene product due to an alphaGly247 (GGT) to Ser (AGT) substitution (G247S). Bo...

Chen(S J),Yuan(W),Lo(S),Trojanowska(M),Var... J Cell Physiol 2000-05-22

Transcription of the alpha2(I) collagen gene (COL1A2) in fibroblasts is potently induced by transforming growth factor-b...

Nuytinck(L),Tükel(T),Kayserili(H),Apak(M Y... J Med Genet 2000-07-17

...COL1A2 gene, resulting in the substitution of glycine by tryptophan at position 277 of the alpha2(I) collagen chain. Gly...

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

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

Phillips(C L),Bradley(D A),Schlotzhauer(C ... Bone 2000-09-14

...COL1A2 gene of type I collagen) fails to synthesize functional pro alpha 2(I) collagen chains, synthesizing only homotri...

Ghosh(A K),Yuan(W),Mori(Y),Varga(J) Oncogene 2000-08-24

...COL1A2 promoter activity in the presence of E1A. The effect of p300 on COL1A2 transcription appeared to be due, in part,...

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

...COL1A2 genes, coding, respectively, for the alpha1 and alpha2 chains of type I collagen, are the causative mutations. Ov...

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

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

Feshchenko(S),Brinckmann(J),Lehmann(H W),K... Hum Mutat 2000-01-18

A heterozygous deletion of exon 9 in the COL1A2-mRNA of a patient with symptoms of both the Ehlers-Danlos-Syndrome and t...

Penkov(D),Ni(R),Else(C),Piñol-Roma(S),Rami... Gene 2000-04-03

...COL1A2 and strongly suggest a cytoplasmic function of this new member of the MSSP family. As part of the initial charact...