Sakata-Takatani(Keiko),Matsuo(Noritaka),Sumi… Matrix Biol 2005-10-28

...Col5a1). The core promoter, which lacks a typical TATA motif and has a high GC content, was defined within the 231 bp im...

Kahai(Shireen),Vary(Calvin P H),Gao(Yuguang)… Matrix Biol 2005-05-19

...COL5A1 mRNA to be expressed in the calvaria and developing bone of the E17.5 mouse embryos. Lastly, significant COL5A1 p...

Wenstrup(Richard J),Florer(Jane B),Brunskill… J Biol Chem 2005-02-04

...col5a1-/- animals die in early embryogenesis, at approximately embryonic day 10. The type V collagen-deficient mice demo...

Zoppi(Nicoletta),Gardella(Rita),De Paepe(Ann… J Biol Chem 2004-06-10

...COL5A1 and COL3A1 genes, respectively, synthesize aberrant types V and III collagen (COLL) and show defective organizati...

Gardella(Rita),Zoppi(Nicoletta),Assanelli(De… Am J Med Genet A 2004-04-23

...COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, ADAMTS2, ELN, FN1, TNXA, and TNXB as candidate genes in the family under study, ...

Wenstrup(Richard J),Florer(Jane B),Cole(Will… J Cell Biochem 2004-12-16

...COL5A1 haplo-insufficiency deposited less than one-half of hydroxyproline as collagen compared to control fibroblasts, t...

Takahara(Kazuhiko),Schwarze(Ulrike),Imamura(… Am J Hum Genet 2002-10-11

...COL5A1 allele. We identified a novel splice-acceptor mutation (IVS4-2A-->G) in the N-propeptide-encoding region of COL5A...

Giunta(C),Nuytinck(L),Raghunath(M),Hausser(I… Am J Med Genet 2002-08-27

...COL5A1), collagen alpha2(V) chain (COL5A2), tenascin-X (TNX), and collagen alpha1(I) chain (COL1A1) have been characteri...

Välkkilä(M),Melkoniemi(M),Kvist(L),Kuivaniem… Matrix Biol 2002-01-23

...COL5A1, COL11A1 and COL11A2 genes, but by 43-44 exons in the genes for the major fibrillar collagens. Characterization o...

Schwarze(U),Atkinson(M),Hoffman(G G),Greensp… Am J Hum Genet 2001-06-07

...COL5A1, COL5A2, and tenascin X genes and since they have been inferred in the COL1A2 gene. Nonetheless, in the majority ...