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Zhou, V. COL1A1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5201 (accessed on 22 September 2026).
Zhou V. COL1A1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5201. Accessed September 22, 2026.
Zhou, Vicky. "COL1A1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5201 (accessed September 22, 2026).
Zhou, V. (2020, December 24). COL1A1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5201
Zhou, Vicky. "COL1A1 Gene." Encyclopedia. Web. 24 December, 2020.
COL1A1 Gene
Edit

collagen type I alpha 1 chain

genes

References

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  2. Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H,Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. Anovel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expandsthe spectrum of collagen-related disorders. J Clin Invest. 2005May;115(5):1250-7.
  3. Greco A, Fusetti L, Villa R, Sozzi G, Minoletti F, Mauri P, Pierotti MA.Transforming activity of the chimeric sequence formed by the fusion of collagengene COL1A1 and the platelet derived growth factor b-chain gene indermatofibrosarcoma protuberans. Oncogene. 1998 Sep 10;17(10):1313-9.
  4. Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms ofOsteogenesis Imperfecta. Bone. 2017 Sep;102:40-49. doi:10.1016/j.bone.2017.02.004.
  5. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L,Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, DeBacker J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R,Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I,Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM,Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. The 2017international classification of the Ehlers-Danlos syndromes. Am J Med Genet CSemin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
  6. Malfait F, Symoens S, Goemans N, Gyftodimou Y, Holmberg E, López-González V,Mortier G, Nampoothiri S, Petersen MB, De Paepe A. Helical mutations in type Icollagen that affect the processing of the amino-propeptide result in anOsteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. Orphanet J Rare Dis. 2013 May 21;8:78. doi: 10.1186/1750-1172-8-78.
  7. Mann V, Ralston SH. Meta-analysis of COL1A1 Sp1 polymorphism in relation tobone mineral density and osteoporotic fracture. Bone. 2003 Jun;32(6):711-7.
  8. Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F,Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesisimperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Review.
  9. Ralston SH. Genetic control of susceptibility to osteoporosis. J ClinEndocrinol Metab. 2002 Jun;87(6):2460-6. Review.
  10. Shimizu A, O'Brien KP, Sjöblom T, Pietras K, Buchdunger E, Collins VP, Heldin CH, Dumanski JP, Ostman A. The dermatofibrosarcoma protuberans-associatedcollagen type Ialpha1/platelet-derived growth factor (PDGF) B-chain fusion genegenerates a transforming protein that is processed to functional PDGF-BB. Cancer Res. 1999 Aug 1;59(15):3719-23.
  11. Simon MP, Pedeutour F, Sirvent N, Grosgeorge J, Minoletti F, Coindre JM,Terrier-Lacombe MJ, Mandahl N, Craver RD, Blin N, Sozzi G, Turc-Carel C, O'Brien KP, Kedra D, Fransson I, Guilbaud C, Dumanski JP. Deregulation of theplatelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma. Nat Genet. 1997 Jan;15(1):95-8.
  12. Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberansfamily of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment.Genes Chromosomes Cancer. 2003 May;37(1):1-19. Review.
  13. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007 Mar;71(3):280-4.
  14. Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis,nomenclature and severity assessment. Am J Med Genet A. 2014 Jun;164A(6):1470-81.doi: 10.1002/ajmg.a.36545.2015 May;167A(5):1178.
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