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The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in ...

Zhang(Zhen-Lin),Zhang(Hao),Ke(Yao-hua),Yue... J Bone Miner Metab 2012-05-14

...COL1A2, including 43 mutations in COL1A1 and 13 mutations in COL1A2. Among the 56 causative COL1A1 and COL1A2 mutations,...

The PI3K/Akt pathway mediates the expression of type I collagen induced by TG...

Yokoyama(Katsuhiko),Kimoto(Kenichi),Itoh(Y... Graefes Arch Clin Exp Ophth... 2012-03-28

...COL1A2. A luciferase assay using a mutation construct of the Smad binding site in COL1A2 promoter (Smad-mut/Luc) was als...

Interstitial fibrosis is associated with increased COL1A2 transcription in AA...

Fragiadaki(Maria),Witherden(Abigail S),Kan... Matrix Biol 2012-01-24

...COL1A2 was studied by detection of the reporter gene LacZ and COL1A2 mRNA in interstitial, glomerular, vascular, and tub...

Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy ...

Roberts-Pilgrim(Anna M),Makareeva(Elena),M... Mol Genet Metab 2012-02-28

Col1a2-deficient (oim) mice synthesize homotrimeric type I collagen due to nonfunctional proα2(I) collagen chains. Our p...

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from pre...

Klaassens(M),Reinstein(E),Hilhorst-Hofstee... Clin Genet 2012-11-13

...COL1A2. These mutations result in skipping of exon 6, which leads to defective collagen synthesis. For physicians treati...

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations...

Fuccio(Antonella),Iorio(Mariangela),Amato(... J Mol Diagn 2012-04-02

Approximately 90% of patients with osteogenesis imperfecta (OI) exhibit dominant COL1A1 or COL1A2 mutations; however, mo...

The in vitro effects of antibiotics on cell viability and gene expression of ...

Parker(R A),Clegg(P D),Taylor(S E) Equine Vet J 2012-08-14

...COL1A2, COL5A1, TNC, TNFα, CASP3, BCl2 and TGFβR2 relative to the reference gene GAPDH.,Enrofloxacin produced a signific...

Isolation of genes involved in pancreas regeneration by subtractive hybridiza...

Choi(Jong-Ho),Lee(Min-Young),Kim(Yoolee),S... Biol Chem 2011-07-14

...Col1a2, Glul, Krt8, Lgmn, LOC299907, LOC502894, Pla2g1b, Reg3α and Xbp1) were identified, and RT-PCR and real-time PCR a...

Transplantation of human fetal blood stem cells in the osteogenesis imperfect...

Vanleene(Maximilien),Saldanha(Zahraa),Cloy... Blood 2011-04-14

...COL1a2 protein, which is absent in oim mice. The presence of normal collagen decreased hydroxyproline content in bones, ...

In situ hybridization reveals that type I and III collagens are produced by p...

Fujiwara(Ken),Jindatip(Depicha),Kikuchi(Mo... Cell Tissue Res 2011-06-20

...col1a2 gene). Type III collagen is a homotrimer of α1(III) chains (the product of the col3a1 gene). We used in situ hybr...

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