TTN c.1045G>T ;(p.G349C)

Variant ID: 2-179659849-C-A

NM_001267550.1(TTN):c.1045G>T;(p.G349C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Mutations of p53 decrease sensitivity to the anthracycline treatments in bladder cancer cells.

Oncotarget
Pandey, Sony S; Bourn, Jennifer J; Cekanova, Maria M
Publication Date: 2018-06-19

Variant appearance in text: TMD: 1045G>T
PubMed Link: 29983877
Variant Present in the following documents:
  • Main text
  • oncotarget-09-28514.pdf
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Makings of a brittle bone: Unexpected lessons from a low protein diet study of a mouse OI model.

Matrix Biology : Journal Of The International Society For Matrix Biology
Mertz, E L EL; Makareeva, E E; Mirigian, L S LS; Koon, K Y KY; Perosky, J E JE; Kozloff, K M KM; Leikin, S S
Publication Date: 2016

Variant appearance in text: TMD: G349C
PubMed Link: 27039252
Variant Present in the following documents:
  • Main text
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Effect of anti-sclerostin therapy and osteogenesis imperfecta on tissue-level properties in growing and adult mice while controlling for tissue age.

Bone
Sinder, Benjamin P BP; Lloyd, William R WR; Salemi, Joseph D JD; Marini, Joan C JC; Caird, Michelle S MS; Morris, Michael D MD; Kozloff, Kenneth M KM
Publication Date: 2016-03

Variant appearance in text: TMD: G349C
PubMed Link: 26769006
Variant Present in the following documents:
  • Main text
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Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment.

Bone
Sinder, Benjamin P BP; Salemi, Joseph D JD; Ominsky, Michael S MS; Caird, Michelle S MS; Marini, Joan C JC; Kozloff, Kenneth M KM
Publication Date: 2015-02

Variant appearance in text: TMD: G349C
PubMed Link: 25445450
Variant Present in the following documents:
  • Main text
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Mineral and matrix changes in Brtl/+ teeth provide insights into mineralization mechanisms.

Biomed Research International
Boskey, Adele L AL; Verdelis, Kostas K; Spevak, Lyudmila L; Lukashova, Lyudmila L; Beniash, Elia E; Yang, Xu X; Cabral, Wayne A WA; Marini, Joan C JC
Publication Date: 2013

Variant appearance in text: TMD: Gly349Cys
PubMed Link: 23802117
Variant Present in the following documents:
  • Main text
  • BMRI2013-295812.pdf
View BVdb publication page