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

doi:10.3390/ijms22020489

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Article

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

International journal of molecular sciences - 6 Jan 2021

Martínez-Gil Núria, Roca-Ayats Neus, Cozar Mónica, Garcia-Giralt Natàlia, Ovejero Diana, Nogués Xavier, Grinberg Daniel, Balcells Susanna

Abstract excerpt

SOST encodes the sclerostin protein, which acts as a key extracellular inhibitor of the canonical Wnt pathway in bone, playing a crucial role in skeletal development and bone homeostasis. The objective of this work was to assess the functionality of two variants previously identified (the rare variant rs570754792 and the missense variant p.Val10Ile) and to investigate the physical interactors of the SOST proximal...

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PMID: 33419004
DOI: 10.3390/ijms22020489
PMCID: PMC7825314

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