Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Vicky Zhou + 706 word(s) 706 2020-12-15 07:48:19

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Zhou, V. COL1A2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5204 (accessed on 22 September 2026).
Zhou V. COL1A2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5204. Accessed September 22, 2026.
Zhou, Vicky. "COL1A2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5204 (accessed September 22, 2026).
Zhou, V. (2020, December 24). COL1A2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5204
Zhou, Vicky. "COL1A2 Gene." Encyclopedia. Web. 24 December, 2020.
COL1A2 Gene
Edit

collagen type I alpha 2 chain

genes

References

  1. Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-SeebacherI, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A,van Mourik C, Voermans N, Zschocke J, Malfait F. The Ehlers-Danlos syndromes,rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi:10.1002/ajmg.c.31550. Review.
  2. Giunta C, Steinmann B. Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrometype VIIB. Hum Genet. 2008 Jun;123(5):540.
  3. 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.
  4. 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.
  5. Malfait F, Symoens S, Coucke P, Nunes L, De Almeida S, De Paepe A. Totalabsence of the alpha2(I) chain of collagen type I causes a rare form ofEhlers-Danlos syndrome with hypermobility and propensity to cardiac valvularproblems. J Med Genet. 2006 Jul;43(7):e36.
  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. 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.
  8. Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH.Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decaypathway. Am J Hum Genet. 2004 May;74(5):917-30.
  9. 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.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vicky Zhou
View Times: 863
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service