COL1A2

Summary

Gene Symbol: COL1A2
Description: collagen type I alpha 2 chain
Alias: EDSARTH2, EDSCV, OI4, collagen alpha-2(I) chain, alpha 2 type I procollagen, alpha 2(I) procollagen, alpha 2(I)-collagen, alpha-2 type I collagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain, collagen, type I, alpha 2, type I procollagen
Species: human
Products:     COL1A2

Top Publications

  1. Lei S, Deng F, Dvornyk V, Liu M, Xiao S, Jiang D, et al. The (GT)n polymorphism and haplotype of the COL1A2 gene, but not the (AAAG)n polymorphism of the PTHR1 gene, are associated with bone mineral density in Chinese. Hum Genet. 2005;116:200-7 pubmed
    Collagen type I alpha2 (COL1A2) and parathyroid hormone (PTH)/PTH-related peptide receptor (PTHR1) are two prominent candidate genes for bone mineral density (BMD)...
  2. Schwarze U, Hata R, McKusick V, Shinkai H, Hoyme H, Pyeritz R, et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet. 2004;74:917-30 pubmed
    Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of exon 6, as well as to mild, moderate, or lethal forms of osteogenesis imperfecta ..
  3. Verrecchia F, Wagner E, Mauviel A. Distinct involvement of the Jun-N-terminal kinase and NF-kappaB pathways in the repression of the human COL1A2 gene by TNF-alpha. EMBO Rep. 2002;3:1069-74 pubmed
    ..kinase (JNK) and NF-kappaB pathways downstream of TNF-alpha in the context of alpha(2) type I collagen gene (COL1A2) expression...
  4. Jinnin M, Ihn H, Yamane K, Mimura Y, Asano Y, Tamaki K. Alpha2(I) collagen gene regulation by protein kinase C signaling in human dermal fibroblasts. Nucleic Acids Res. 2005;33:1337-51 pubmed
    ..Alteration of the balance of Ets1 and Fli1 may be a novel mechanism regulating alpha2(I) collagen expression. ..
  5. Korkko J, Ala Kokko L, De Paepe A, Nuytinck L, Earley J, Prockop D. Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-al. Am J Hum Genet. 1998;62:98-110 pubmed
    ..with osteogenesis imperfecta (OI) have been estimated to have mutations in the COL1A1 and COL1A2 genes for type I procollagen, mutations have been difficult to detect in all patients with the mildest forms of the disease (i.e...
  6. Rose N, MacKay K, Byers P, Dalgleish R. A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. Hum Mutat. 1994;3:391-4 pubmed
  7. Spotila L, Constantinou C, Sereda L, Ganguly A, Riggs B, Prockop D. Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1991;88:5423-7 pubmed
    ..that there may be phenotypic and genotypic overlap between mild osteogenesis imperfecta and postmenopausal osteoporosis, and that a subset of women with postmenopausal osteoporosis may have mutations in the genes for type I procollagen.
  8. Zhu Y, Li W, Ge M, Xu S, Zhao G, Wang H, et al. Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. J Neurosurg. 2008;109:1060-4 pubmed publisher
    The COL1A2 gene at 7q22.1 has been shown to be associated with familial intracranial aneurysms (IAs) in the Japanese population...
  9. Lindahl K, Rubin C, Brändström H, Karlsson M, Holmberg A, Ohlsson C, et al. Heterozygosity for a coding SNP in COL1A2 confers a lower BMD and an increased stroke risk. Biochem Biophys Res Commun. 2009;384:501-5 pubmed publisher
    Genetic variation plays an important role in osteoporosis and a prime candidate gene is Collagen alpha2(I) (COL1A2). A coding polymorphism (rs42524) in COL1A2 has previously been associated with intracranial aneurysms...

More Information

Publications67

  1. Nerenberg P, Stultz C. Differential unfolding of alpha1 and alpha2 chains in type I collagen and collagenolysis. J Mol Biol. 2008;382:246-56 pubmed publisher
    ..These results suggest that hydroxylation on one chain (alpha1) can affect the structure of another chain (alpha2), and point to a critical role for the non-hydroxylation of proline residues near the collagenase cleavage site. ..
  2. Joo S, Kim T, Lee I, Lee J, Seo B, Kim J, et al. The role of collagen type I alpha2 polymorphisms: intracranial aneurysms in Koreans. Surg Neurol. 2009;72:48-53; discussion 53 pubmed publisher
    The COL1A2 is located on chromosome 7q22.1, and mutations in this gene have been associated with the development of IAs...
  3. Lund A, Aström E, Soderhall S, Schwartz M, Skovby F. Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III. Mutations in brief no. 242. Online. Hum Mutat. 1999;13:503 pubmed
    ..Data regarding the G688S substitution may suggest a different effect of the two a-chains in the development of dentinogenesis imperfecta (DI). ..
  4. Willing M, Cohn D, Starman B, Holbrook K, Greenberg C, Byers P. Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem. 1988;263:8398-404 pubmed
    ..b>Type I procollagen molecules that contain the mutant pro-alpha 2(I) chain have a lower than normal thermal stability, undergo ..
  5. Faqeih E, Roughley P, Glorieux F, Rauch F. Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. Am J Med Genet A. 2009;149A:461-5 pubmed publisher
    ..In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 ..
  6. Anderton J, Lindsey J, Lusher M, Gilbertson R, Bailey S, Ellison D, et al. Global analysis of the medulloblastoma epigenome identifies disease-subgroup-specific inactivation of COL1A2. Neuro Oncol. 2008;10:981-94 pubmed publisher
    ..show disruption of their sex-specific methylation patterns in tumors, and (3) tumor-specific methylated genes (COL1A2, S100A10, S100A6, HTATIP2, CDH1, LXN) that display enhanced methylation levels in tumors compared with the ..
  7. Pihlajaniemi T, Dickson L, Pope F, Korhonen V, Nicholls A, Prockop D, et al. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol Chem. 1984;259:12941-4 pubmed
    ..The mutation prevents incorporation of pro-alpha 2(I) chains into the normal type I procollagen heterotrimer resulting in secretion of only pro-alpha 1(I) homotrimers...
  8. Lau E, Choy D, Li M, Woo J, Chung T, Sham A. The relationship between COLI A1 polymorphisms (Sp 1) and COLI A2 polymorphisms (Eco R1 and Puv II) with bone mineral density in Chinese men and women. Calcif Tissue Int. 2004;75:133-7 pubmed
    ..05 by ANOVA). We conclude that the COLI Al Sp1 binding site is absent in Hong Kong Chinese, whereas the COLI A2 Eco R1 and Puv II genetic polymorphisms may be associated with the BMD of elderly Chinese men. ..
  9. Pace J, Atkinson M, Willing M, Wallis G, Byers P. Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. Hum Mutat. 2001;18:319-26 pubmed
    Triple helix formation is a prerequisite for the passage of type I procollagen from the endoplasmic reticulum and secretion from the cell to form extracellular fibrils that will support mineral deposition in bone...
  10. Retief E, Parker M, Retief A. Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1). Hum Genet. 1985;69:304-8 pubmed
    ..3-22.1. The location of the pro-alpha 1(I) collagen gene was found to be in band 17q21.31-2205. ..
  11. Yoneyama T, Kasuya H, Onda H, Akagawa H, Hashiguchi K, Nakajima T, et al. Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. Stroke. 2004;35:443-8 pubmed
    The collagen alpha2(I) gene (COL1A2) on chromosome 7q22.1, a positional and functional candidate for intracranial aneurysm (IA), was extensively screened for susceptibility in Japanese IA patients...
  12. Pace J, Wiese M, Drenguis A, Kuznetsova N, Leikin S, Schwarze U, et al. Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. J Biol Chem. 2008;283:16061-7 pubmed publisher
    b>Type I procollagen is a heterotrimer composed of two proalpha1(I) chains and one proalpha2(I) chain, encoded by the COL1A1 and COL1A2 genes, respectively...
  13. Malfait F, Symoens S, Coucke P, Nunes L, de Almeida S, De Paepe A. Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet. 2006;43:e36 pubmed
    Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the alpha1 and alpha2 chain of type I collagen generally cause either osteogenesis imperfecta or the arthrochalasis form of Ehlers-Danlos syndrome (EDS)...
  14. Malfait F, Symoens S, De Backer J, Hermanns Le T, Sakalihasan N, Lapiere C, et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007;28:387-95 pubmed
    Mutations in the COL1A1 and COL1A2 genes, encoding the proalpha1 and 2 chains of type I collagen, cause osteogenesis imperfecta (OI) or Ehlers-Danlos syndrome (EDS) arthrochalasis type...
  15. Asano Y, Czuwara J, Trojanowska M. Transforming growth factor-beta regulates DNA binding activity of transcription factor Fli1 by p300/CREB-binding protein-associated factor-dependent acetylation. J Biol Chem. 2007;282:34672-83 pubmed
    ..More importantly, reduced binding of acetylated Fli1 to the human alpha2(I) collagen (COL1A2) promoter was observed in DNA affinity precipitation and chromatin immunoprecipitation...
  16. Bodian D, Chan T, Poon A, Schwarze U, Yang K, Byers P, et al. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. Hum Mol Genet. 2009;18:463-71 pubmed publisher
    ..Although OI generally results from mutations in the type I collagen genes, COL1A1 and COL1A2, the relationship between genotype and phenotype is not yet well understood...
  17. Sengupta P, Smith E, Kim K, Murnane M, Smith B. DNA hypermethylation near the transcription start site of collagen alpha2(I) gene occurs in both cancer cell lines and primary colorectal cancers. Cancer Res. 2003;63:1789-97 pubmed
    ..These data also suggest that methylation-induced repression of collagen transcription may be a frequent occurrence in cancer. ..
  18. Cohen Solal L, Zylberberg L, Sangalli A, Gomez Lira M, Mottes M. Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone. J Biol Chem. 1994;269:14751-8 pubmed
    ..The mutation was identified as a G to A transition in the COL1A2 gene, which converts glycine 700 to aspartic acid in the alpha 2I chain...
  19. Ghosh A, Bhattacharyya S, Varga J. The tumor suppressor p53 abrogates Smad-dependent collagen gene induction in mesenchymal cells. J Biol Chem. 2004;279:47455-63 pubmed
    ..of cellular p53 was associated with significantly enhanced transcriptional activity of the Type I collagen gene (COL1A2) and collagen synthesis...
  20. Stembridge N, Vandersteen A, Ghali N, Sawle P, Nesbitt M, Pollitt R, et al. Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene. Am J Med Genet A. 2015;167A:1763-72 pubmed publisher
    ..We briefly compare reported phenotypes for patients with missense variants in the C-propeptide domain for other human collagen disorders including COL1A1 and COL1A2 (osteogenesis imperfecta).
  21. Cassella J, Pereira R, Khillan J, Prockop D, Garrington N, Ali S. An ultrastructural, microanalytical, and spectroscopic study of bone from a transgenic mouse with a COL1.A1 pro-alpha-1 mutation. Bone. 1994;15:611-9 pubmed
    ..that expressed moderate levels of an internally deleted human gene for the pro alpha (I) chain of type I procollagen. These mice expressed the gene at approximately 50% that of the endogenous gene...
  22. Marshall C, Lopez J, Crookes L, Pollitt R, Balasubramanian M. A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly. Gene. 2016;595:49-52 pubmed publisher
    ..85-90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern of inheritance...
  23. Mirigian L, Makareeva E, Mertz E, Omari S, Roberts Pilgrim A, Oestreich A, et al. Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in ?2(I)-G610C Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2016;31:1608-1616 pubmed publisher
    Glycine (Gly) substitutions in collagen Gly-X-Y repeats disrupt folding of type I procollagen triple helix and cause severe bone fragility and malformations (osteogenesis imperfecta [OI])...
  24. Durán I, Martin J, Weis M, Krejci P, Konik P, Li B, et al. A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen. J Bone Miner Res. 2017;32:1309-1319 pubmed publisher
    ..2017 American Society for Bone and Mineral Research. ..
  25. Wang H, Zhao X, Ren X, Xiao J, Zhang X. [Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:431-4 pubmed publisher
    ..Heterozygous deletions of the entire COL1A1 gene and exon 20 of the COL1A2 gene were detected in probands A and B, respectively, and no gross deletion was found in the remaining 44 samples...
  26. Myers J, Chu M, Faro S, Clark W, Prockop D, Ramirez F. Cloning a cDNA for the pro-alpha 2 chain of human type I collagen. Proc Natl Acad Sci U S A. 1981;78:3516-20 pubmed
    Poly(A)-RNA enriched for type I procollagen sequences was isolated from normal human fibroblasts and used as template to synthesize double-stranded cDNA with avian myeloblastosis virus (AMV) reverse transcriptase...
  27. Styrkarsdottir U, Thorleifsson G, Eiriksdottir B, Gudjonsson S, Ingvarsson T, Center J, et al. Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland. J Bone Miner Res. 2016;31:173-9 pubmed publisher
    ..We found two rare missense mutations, p.Gly496Ala and p.Gly703Ser, in the COL1A2 gene that associate with measures of osteoporosis in Icelanders...
  28. Zhang H, Yue H, Wang C, Hu W, Gu J, He J, et al. Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. Mol Med Rep. 2016;14:4918-4926 pubmed publisher
    ..and clinical manifestations of mutations in collagen type I, alpha 1 (COL1A1) and collagen type I, alpha 2 (COL1A2) genes in Chinese patients with OI...
  29. Bateman J, Moeller I, Hannagan M, Chan D, Cole W. Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch. Hum Mutat. 1992;1:55-62 pubmed
    ..abstract truncated at 250 words) ..
  30. Rolvien T, Kornak U, Stürznickel J, Schinke T, Amling M, Mundlos S, et al. A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporos Int. 2018;29:243-246 pubmed publisher
    ..characterized by low bone mass and increased bone fragility caused by heterozygous mutations in the type I procollagen genes (COL1A1/COL1A2)...
  31. Lei T, Liang Z, Li F, Tang C, Xie K, Wang P, et al. Pulsed electromagnetic fields (PEMF) attenuate changes in vertebral bone mass, architecture and strength in ovariectomized mice. Bone. 2018;108:10-19 pubmed publisher
    ..alkaline phosphatase (BALP), serum osteocalcin (OCN), osteoprotegerin (OPG) and N-terminal propeptide of type I procollagen (P1NP) were markedly higher in OVX+PEMF group compared with OVX group...
  32. Chivu Economescu M, Necula L, Dragu D, Badea L, Dima S, Tudor S, et al. Identification of potential biomarkers for early and advanced gastric adenocarcinoma detection. Hepatogastroenterology. 2010;57:1453-64 pubmed
    ..This study aimed to understand gradual biological variations during gastric tumorigenesis, and to identify the candidate genes that are involved in tumor progression and metastasis...
  33. Gambini E, Perrucci G, Bassetti B, Spaltro G, Campostrini G, Lionetti M, et al. Preferential myofibroblast differentiation of cardiac mesenchymal progenitor cells in the presence of atrial fibrillation. Transl Res. 2018;192:54-67 pubmed publisher
    ..In addition, TGF-?1 treatment induced the upregulation of COL1A1 and COL1A2 in AF-CMPC only...
  34. Park J, Yoon Y, Park H, Kuh S. Molecular response of human cervical and lumbar nucleus pulposus cells from degenerated discs following cytokine treatment. Genet Mol Res. 2013;12:838-51 pubmed publisher
    ..The matrix-related gene expression of cervical and lumbar NP after rhBMP-2 and TGF-?1 treatment increased similarly, with the exception of collagen expression. ..
  35. Zhang Z, Zhang H, Ke Y, Yue H, Xiao W, Yu J, et al. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. J Bone Miner Metab. 2012;30:69-77 pubmed publisher
    Dominant inheritance of osteogenesis imperfecta (OI) is caused by mutations in COL1A1 or COL1A2, the genes that encode type I collagen, and CRTAP, LEPRE1, PPIB, FKBP10, SERPINH1, and SP7 mutations were recently detected in a minority of ..
  36. Meng Q, Hao Q, Zhao C. The association between collagen gene polymorphisms and intracranial aneurysms: a meta-analysis. Neurosurg Rev. 2017;: pubmed publisher
    ..A total of 14 trials with 13,709 patients were included. Four collagen genes, COL1A2 (21 SNPs), COL3A1 (7 SNPs), COL4A1 (6 SNPs), and COL4A2 (1 SNP), were analyzed...
  37. Okano K, Schnaper H, Bomsztyk K, Hayashida T. RACK1 binds to Smad3 to modulate transforming growth factor-beta1-stimulated alpha2(I) collagen transcription in renal tubular epithelial cells. J Biol Chem. 2006;281:26196-204 pubmed
    ..These results suggest that RACK1 modulates transcription of alpha2(I) collagen by TGF-beta1 through interference with Smad3 binding to the gene promoter. ..
  38. Li I, Horwell A, Chu G, de Crombrugghe B, Bou Gharios G. Characterization of Mesenchymal-Fibroblast Cells Using the Col1a2 Promoter/Enhancer. Methods Mol Biol. 2017;1627:139-161 pubmed publisher
    ..In our previous work, we characterized an enhancer region 17 kb upstream of the Col1a2 gene transcription start site...
  39. Wenstrup R, Lever L, Phillips C, Quarles L. Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta. Am J Med Genet. 1993;45:228-32 pubmed
    ..all mutations that result in osteogenesis imperfecta (OI) affect the genes that encode the chains of type I procollagen, the effects of mutations in the COL1A2 gene have received less attention than those in the COL1A1 gene...
  40. Zhu Z, Jiang Y, Chen S, Jia S, Gao X, Dong D, et al. An insertion/deletion polymorphism in the 3' untranslated region of type I collagen a2 (COL1A2) is associated with susceptibility for hepatocellular carcinoma in a Chinese population. Cancer Genet. 2011;204:265-9 pubmed publisher
    ..between HCC susceptibility with a 7 base pair (bp) insertion/deletion polymorphism (rs3917) in the 3'UTR of COL1A2. Our results showed that the ins/del + del/del genotype had an odds ratio of 1.76 (95% C.I.=1.03-3.01; P=0...
  41. Leaner V, Masemola A, Parker M. Species-specific regulation of the alpha-2(I) procollagen gene by proximal promoter elements. IUBMB Life. 2005;57:363-70 pubmed
  42. Li G, Jin Y, Levine M, Hoyer Kuhn H, Ward L, Adachi J. Systematic review of the effect of denosumab on children with osteogenesis imperfect showed inconsistent findings. Acta Paediatr. 2017;: pubmed publisher
    ..Most cases are due to mutations in one of the two genes encoding collagen type-1 - COL1A1 and COL1A2 (1) - and the signs and symptoms vary substantially with the disease severity...
  43. Kim S, Lee Y, Seo J, Cho K, Chung J. Caveolin-1 increases basal and TGF-beta1-induced expression of type I procollagen through PI-3 kinase/Akt/mTOR pathway in human dermal fibroblasts. Cell Signal. 2008;20:1313-9 pubmed publisher
    ..In this study, we investigated the role of cav-1 on basal and TGF-beta1-induced expression of type I procollagen in human dermal fibroblasts...
  44. Yamane K, Suzuki H, Ihn H, Kato M, Yoshikawa H, Tamaki K. Cell type-specific regulation of the TGF-beta-responsive alpha2(I) collagen gene by CpG methylation. J Cell Physiol. 2005;202:822-30 pubmed
    ..Thus, we propose that alpha2(I) collagen gene provides the first example of the TGF-beta responsive gene whose cell type-specificity is regulated by CpG methylation. ..
  45. Bozec A, Bakiri L, Jimenez M, Schinke T, Amling M, Wagner E. Fra-2/AP-1 controls bone formation by regulating osteoblast differentiation and collagen production. J Cell Biol. 2010;190:1093-106 pubmed publisher
    ..These findings reveal a novel function of Fra-2/AP-1 as a positive regulator of bone and matrix formation in mice and humans. ..
  46. Marini J, Lewis M, Wang Q, Chen K, Orrison B. Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology. J Biol Chem. 1993;268:2667-73 pubmed
    ..The fibroblasts of the proband whose serine substitution is at alpha 1(I) Gly352 synthesize type I procollagen chains with delayed electrophoretic migration; normally migrating forms are difficult to detect...
  47. Guo Z, Wu J, Zhao J, Liu F, Chen Y, Bi L, et al. [IL-33/ST2 promotes airway remodeling in asthma by activating the expression of fibronectin 1 and type 1 collagen in human lung fibroblasts]. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2014;30:975-9 pubmed
    ..05). The IL-33/ST2 pathway may promote airway remodeling in asthma through activating HLF-1 to over-express FN1 and Col1. ..
  48. Dawson D. Preliminary evidence of an association between COL1A2 polymorphisms and dental fluorosis in a population with high fluoride exposure. J Evid Based Dent Pract. 2010;10:96-8 pubmed publisher
    b>COL1A2 gene polymorphisms (Pvu II and Rsa I), serum calciotropic hormone levels, and dental fluorosis. Huang H, Ba Y, Cui L, Cheng X, Zhu J, Zhang Y, et al. Community Dent Oral Epidemiol 2008;36(6):517-22. Deborah V...
  49. Sztrolovics R, Glorieux F, Travers R, van der Rest M, Roughley P. Osteogenesis imperfecta: comparison of molecular defects with bone histological changes. Bone. 1994;15:321-8 pubmed
    ..The results are compatible with there being a gradient in severity between OI types II and III, and that parameters external to the gene mutations might account for the survival differences in the 2 cases presented in this study...
  50. Baldwin C, Constantinou C, Dumars K, Prockop D. A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple he. J Biol Chem. 1989;264:3002-6 pubmed
    b>Type I procollagen was examined in cultured skin fibroblasts from a patient with a lethal variant of osteogenesis imperfecta. About half of the pro-alpha chains were post-translationally overmodified and had a decreased thermal stability...
  51. Dumin J, Dickeson S, Stricker T, Bhattacharyya Pakrasi M, Roby J, Santoro S, et al. Pro-collagenase-1 (matrix metalloproteinase-1) binds the alpha(2)beta(1) integrin upon release from keratinocytes migrating on type I collagen. J Biol Chem. 2001;276:29368-74 pubmed
  52. Das F, Ghosh Choudhury N, Venkatesan B, Kasinath B, Ghosh Choudhury G. PDGF receptor-? uses Akt/mTORC1 signaling node to promote high glucose-induced renal proximal tubular cell collagen I (?2) expression. Am J Physiol Renal Physiol. 2017;313:F291-F307 pubmed publisher
  53. Vukmirovic M, Manojlovic Z, Stefanovic B. Serine-threonine kinase receptor-associated protein (STRAP) regulates translation of type I collagen mRNAs. Mol Cell Biol. 2013;33:3893-906 pubmed publisher
    ..These defects can be partially restored by supplementing STRAP. Thus, we discovered STRAP as a novel regulator of the coordinated translation of collagen mRNAs. ..
  54. Challa A, Stefanovic B. A novel role of vimentin filaments: binding and stabilization of collagen mRNAs. Mol Cell Biol. 2011;31:3773-89 pubmed publisher
    ..Thus, vimentin filaments may play a role in the development of tissue fibrosis by stabilizing collagen mRNAs. This finding will serve as a rationale for targeting vimentin in the development of novel antifibrotic therapies. ..
  55. Wilk J, Walter R, Laramie J, Gottlieb D, O Connor G. Framingham Heart Study genome-wide association: results for pulmonary function measures. BMC Med Genet. 2007;8 Suppl 1:S8 pubmed
    ..These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. ..
  56. Ma F, Sun T, Wu M, Wang W, Xu Z. Identification of key genes for diabetic kidney disease using biological informatics methods. Mol Med Rep. 2017;16:7931-7938 pubmed publisher
    ..factor A (VEGFA), ??actinin?4 (ACTN4), proto?oncogene, Src family tyrosine kinase (FYN), collagen, type 1, ?2 (COL1A2) and insulin?like growth factor 1 (IGF1) were hub proteins...
  57. Makela M, Salo T, Larjava H. MMP-9 from TNF alpha-stimulated keratinocytes binds to cell membranes and type I collagen: a cause for extended matrix degradation in inflammation?. Biochem Biophys Res Commun. 1998;253:325-35 pubmed
    ..Binding of MMP-9 from keratinocyte conditioned medium was demonstrated along the collagen fibers using immunoelectron microscopy. These phenomena may participate in extended matrix degradation in chronic inflammation. ..
  58. Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, Lopez Gonzalez V, et al. Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013;8:78 pubmed publisher
    Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ..