COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE Effects of the immunosuppressant rapamycin on the expression of human α2(I) collagen and matrix metalloproteinase 1 genes in scleroderma dermal fibroblasts. 24630239 2014
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE Here, we demonstrate for the first time that CS and CSf exert an inhibitory effect on type I collagen protein synthesis and decrease the corresponding mRNA steady-state levels of COL1A1 and COL1A2 in NF and SF. 18298657 2008
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE We have investigated the role of hc-Krox transcription factor on type I collagen expression by human dermal fibroblasts. hc-Krox exerted a stimulating effect on type I collagen protein synthesis and enhanced the corresponding mRNA steady-state levels of COL1A1 and COL1A2 in foreskin fibroblasts (FF), adult normal fibroblasts (ANF), and scleroderma fibroblasts (SF). 17698844 2007
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE HGF did not change the protein expression of type I procollagen in the medium of normal human fibroblasts, whereas it reduced the expression in scleroderma fibroblasts. 15675950 2005
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE Here, we investigated the role of phosphatidylinositol 3-kinase (PI3K) in the COL1A2 gene expression in normal and scleroderma fibroblasts. 15153536 2004
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE These include the role of transforming growth factor-beta (TGF-beta) and connective tissue growth factor (CTGF) and their receptors in the fibrotic process in scleroderma and the overview of the transcription factors involved in regulation of the human alpha2 (I) collagen (COL1A2) gene. 11861221 2002
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE CI secretion and steady-state pro alpha1(I) collagen messenger RNA (mRNA) levels and COL1A2 gene activation were examined in fibroblasts grown from lung biopsy specimens obtained from 16 scleroderma patients with lung fibrosis and from 10 histologically normal lung specimens (controls). 9214423 1997
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE Analysis of the expression of COL1A2 promoter deletion constructs indicates that the TGF beta responsive element functional in normal fibroblasts and the sequence involved in intrinsic upregulation of COL1A2 gene expression in scleroderma fibroblasts are both located between bp-376 (Bgl II) and bp-108 (Sma I) sites. 1520334 1992
CUI: C0011644
Disease: Scleroderma
Scleroderma
0.090 AlteredExpression disease BEFREE Elevated pro alpha 2(I) collagen mRNA levels in cultured scleroderma fibroblasts result from an increased transcription rate of the corresponding gene. 3582658 1987