Publications:

Genetics and Genomics of SOST: Functional Analysis of Variants and Genomic Regulation in Osteoblasts.

International Journal Of Molecular Sciences

Martínez-Gil, Núria N; Roca-Ayats, Neus N; Cozar, Mónica M; Garcia-Giralt, Natàlia N; Ovejero, Diana D; Nogués, Xavier X; Grinberg, Daniel D; Balcells, Susanna S

Publication Date: 2021-01-06

Variant appearance in text: rs17883310

PubMed Link: 33419004

Variant Present in the following documents:

• Main text
• ijms-22-00489.pdf

View BVdb publication page

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: rs17883310

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

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Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density.

Scientific Reports

Martínez-Gil, Núria N; Roca-Ayats, Neus N; Monistrol-Mula, Anna A; García-Giralt, Natàlia N; Díez-Pérez, Adolfo A; Nogués, Xavier X; Mellibovsky, Leonardo L; Grinberg, Daniel D; Balcells, Susana S

Publication Date: 2018-07-19

Variant appearance in text: rs17883310

PubMed Link: 30026596

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29242.pdf
• 41598_2018_29242_MOESM1_ESM.pdf

View BVdb publication page