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[Osteogenesis imperfecta: clinical and genetic heterogeneity].

van Dijk(Fleur S),Cobben(Jan M),Maugeri(Al... Ned Tijdschr Geneeskd 2012-07-16

...COL1A2 genes is currently the starting point for laboratory diagnosis unless there are strong indications for a recessiv...

Hypermethylation of collagen α2 (I) gene (COL1A2) is an independent predictor...

Misawa(Kiyoshi),Kanazawa(Takeharu),Misawa(... Cancer Biomark 2012-10-19

...COL1A2) gene expression in cases of head and neck squamous cell carcinoma (HNSCC).,COL1A2 expression was examined in a p...

Differential activation of valvulogenic, chondrogenic, and osteogenic pathway...

Cheek(Jonathan D),Wirrig(Elaine E),Alfieri... J Mol Cell Cardiol 2012-07-09

...Col1a2, have distal leaflet thickening and increased proteoglycan composition characteristic of myxomatous valve disease...

COL1A2 polymorphic markers confer an increased risk of neovascular age-relate...

Zuo(Chengguo),Wen(Feng),Li(Meng),Zhang(Xio... Mol Vis 2012-11-13

...COL1A2) gene, which has been identified as a risk variant for intracranial aneurysm, with nAMD and PCV in a Han Chinese ...

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes...

Semler(Oliver),Garbes(Lutz),Keupp(Katharin... Am J Hum Genet 2012-10-22

...COL1A2. The most remarkable and pathognomonic feature, observed in ~65% of affected individuals, is a predisposition to ...

Gene expression of single human mesenchymal stem cell in response to fluid sh...

Zhang(Hu),Kay(Alasdair),Forsyth(Nicholas R... J Tissue Eng 2012-08-23

...COL1A2), heat shock 70-kDa protein 1A (HSPA1A) and osteopontin (OPN) are expressed to a detectable level in most of the ...

Synergistic roles of scleraxis and Smads in the regulation of collagen 1α2 ge...

Bagchi(Rushita A),Czubryt(Michael P) Biochim Biophys Acta 2012-11-19

...COL1A2 transactivation, an effect which was due to synergy between scleraxis and Smad3. Mutation of the COL1A2 Smad-bind...

Mapping QTL affecting a systemic sclerosis-like disorder in a cross between U...

Ek(Weronica),Sahlqvist(Anna-Stina),Crooks(... Dev Comp Immunol 2012-12-11

...COL1A2, as well as CCR8, which is more generally related to immune function. IGFBP3 is also located within the QTL on ch...

Structural and molecular analysis of pollution-linked deformities in a natura...

Kessabi(Kaouthar),Annabi(Ali),Navarro(Anna... J Environ Monit 2012-11-02

...COL1A2 gene in bone tissue, compared to either non-deformed animals from the same location or normal animals from the re...

Hearing loss in osteogenesis imperfecta: characteristics and treatment consid...

Pillion(Joseph P),Vernick(David),Shapiro(Jay) Genet Res Int 2012-08-23

...COL1A2 genes which are responsible for the synthesis of the proalpha-1 and proalpha-2 polypeptide chains that form the t...

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