Demir(E),Ferreiro(A),Sabatelli(P),Allamand... Neuropediatrics 2004-07-20

...COL6A3 (2 q37) genes, encoding the alpha 1, alpha 2 and alpha 3 chains of collagen VI, respectively, have been recently ...

Sherman-Baust(Cheryl A),Weeraratna(Ashani ... Cancer Cell 2003-10-08

...COL6A3 was one of the most highly upregulated genes, and cultivation of cisplatin-sensitive cells in the presence of col...

Pan(Te-Cheng),Zhang(Rui-Zhu),Sudano(Domini... Am J Hum Genet 2003-09-24

...COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder cha...

Demir(Ercan),Sabatelli(Patrizia),Allamand(... Am J Hum Genet 2002-06-27

...COL6A3, which encodes the alpha3 chain of collagen VI, and identified one homozygous mutation per family. In family I, t...

Mercuri(E),Yuva(Y),Brown(S C),Brockington(... Neurology 2002-05-24

...COL6A3 loci in the third case. In the remaining nine patients, primary collagen VI involvement was excluded based on eit...

Lamandé(Shireen R),Mörgelin(Matthias),Sela... J Biol Chem 2002-02-13

...COL6A3, are the cause of the dominantly inherited disorder, Bethlem myopathy. Glycine mutations that interrupt the Gly-X...

Verrecchia(F),Chu(M L),Mauviel(A) J Biol Chem 2001-07-05

...COL6A3, and tissue inhibitor of metalloproteases-1 as definite TGF-beta/Smad3 targets. Extrapolation of this approach to...

Wildey(G M),Billetz(A C),Matyas(J R),Adams... J Orthop Res 2001-09-06

...COL6A3 gene of type VI collagen, a major repair molecule, were determined by quantitative ribonuclease (RNase) protectio...

Lamandé(S R),Shields(K A),Kornberg(A J),Sh... J Biol Chem 1999-08-19

...COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy. Although three different collagen VI structu...

Pan(T C),Zhang(R Z),Pericak-Vance(M A),Tan... Hum Mol Genet 1998-08-26

...COL6A3 (chromosome 2) as candidate genes. Mutations of the invariant glycine residues in the triple-helical domain-codin...