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Article

Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

PloS one - 1 Jan 2014

Sarrión Patricia, Mellibovsky Leonardo, Urreizti Roser, Civit Sergi, Cols Neus, García-Giralt Natàlia, Yoskovitz Guy, Aranguren Alvaro, Malouf Jorge, Di Gregorio Silvana, Río Luís Del, Güerri Roberto, Nogués Xavier, Díez-Pérez Adolfo, Grinberg Daniel, Balcells Susana

Abstract excerpt

The aims of the study were to establish the prevalence of high bone mass (HBM) in a cohort of Spanish postmenopausal women (BARCOS) and to assess the contribution of LRP5 and DKK1 mutations and of common bone mineral density (BMD) variants to a HBM phenotype. Furthermore, we describe the expression of several osteoblast-specific and Wnt-pathway genes in primary osteoblasts from two HBM cases. A 0.6% of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24736728
DOI: 10.1371/journal.pone.0094607
PMCID: PMC3988071

Genes

HBM
DKK1
LRP5
DLX3
PPARG
RUNX2
SOX6
TWIST1

Variants

Provenance

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