Borck(Guntram),Beighton(Peter),Wilhelm(Chris… Am J Med Genet A 2010-11-15

...COL5A1 and identified a heterozygous de novo nonsense mutation, c.3184C>T (p.R1062X). As, to the best of our knowledge, ...

Liu(Yong),Taylor(Norman E),Lu(Limin),Usa(Kri… Hypertension 2010-04-09

...Col5a1, Col5a2, Col5a3, Col7a1, Col8a1, Mmp2, or Itgb1 but not Col12a1. The result demonstrated broad effects of miR-29b...

Borradaile(Nica M),Pickering(J Geoffrey) Am J Physiol Cell Physiol 2010-01-15

...COL5A1, FN1, MMP10/14). The protection from polyploidy conferred by Nampt was not associated with enhanced poly(ADP-ribo...

Raleigh(S M),van der Merwe(L),Ribbans(W J),S… Br J Sports Med 2010-07-21

Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of...

Posthumus(Michael),September(Alison V),Schwe… J Sci Med Sport 2009-06-22

...COL5A1) and tenascin C (TNC) genes have to date been shown to be associated with chronic Achilles tendinopathies and/or ...

Symoens(Sofie),Malfait(Fransiska),Renard(Mar… Hum Mutat 2009-04-10

...COL5A1 allele, as a result of the introduction of a premature stopcodon in one COL5A1 transcript. A minority of mutation...

Collins(Malcolm),Raleigh(Stuart M) Med Sport Sci 2009-12-03

...COL5A1 and MMP3 genes co-segregate with chronic Achilles tendinopathy. The variant within the TNC gene also appears to c...

Clouet(Johann),Grimandi(Gaël),Pot-Vaucel(Mar… Rheumatology (Oxford) 2009-12-14

...COL5A1) collagens, aggrecan transcript (AGC1), matrix Gla protein (MGP) and Htra serine peptidase 1 (Htra1).,Transcript ...

Kirwan(Ruaidhrí P),Wordinger(Robert J),Clark… Mol Vis 2009-04-17

...COL5A1), and collagen type XI (COL11A1). Downregulated ECM genes in POAG included fibulin 1 (FBLN1), decorin (DCN), and ...

Mitchell(Anna L),Schwarze(Ulrike),Jennings(J… Hum Mutat 2009-08-13

...COL5A1 and COL5A2. The most common mechanism is COL5A1 haploinsufficiency due to instability of the transcript of one al...