RUNX2 c.897T>G ;(p.Y299*)

Variant ID: 6-45480020-T-G

NM_001024630.3(RUNX2):c.897T>G;(p.Y299*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Expression of FBXW11 in normal and disease-associated osteogenic cells.

Journal Of Cellular And Molecular Medicine
Dalle Carbonare, Luca L; Gomez Lira, Macarena M; Minoia, Arianna A; Bertacco, Jessica J; Orsi, Silvia S; Lauriola, Angela A; Li Vigni, Veronica V; Gandini, Alberto A; Antoniazzi, Franco F; Zipeto, Donato D; Mottes, Monica M; Bhandary, Lekhana L; Guardavaccaro, Daniele D; Valenti, Maria Teresa MT
Publication Date: 2023-05-17

Variant appearance in text: CCD: Tyr299*
PubMed Link: 37199076
Variant Present in the following documents:
  • Main text
  • JCMM-27-1580.pdf
View BVdb publication page



Fisetin: An Integrated Approach to Identify a Strategy Promoting Osteogenesis.

Frontiers In Pharmacology
Dalle Carbonare, Luca L; Bertacco, Jessica J; Gaglio, Salvatore Calogero SC; Minoia, Arianna A; Cominacini, Mattia M; Cheri, Samuele S; Deiana, Michela M; Marchetto, Giulia G; Bisognin, Anna A; Gandini, Alberto A; Antoniazzi, Franco F; Perduca, Massimiliano M; Mottes, Monica M; Valenti, Maria Teresa MT
Publication Date: 2022

Variant appearance in text: CCD: 897T>G
PubMed Link: 35652047
Variant Present in the following documents:
  • Main text
  • fphar-13-890693.pdf
View BVdb publication page



Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.

International Journal Of Molecular Sciences
Dalle Carbonare, Luca L; Antoniazzi, Franco F; Gandini, Alberto A; Orsi, Silvia S; Bertacco, Jessica J; Li Vigni, Veronica V; Minoia, Arianna A; Griggio, Francesca F; Perduca, Massimiliano M; Mottes, Monica M; Valenti, Maria Teresa MT
Publication Date: 2021-09-25

Variant appearance in text: RUNX2: 897T>G
PubMed Link: 34638677
Variant Present in the following documents:
  • Main text
  • ijms-22-10336.pdf
View BVdb publication page