[HTML][HTML] Wnt signaling: Essential roles in osteoblast differentiation, bone metabolism and therapeutic implications for bone and skeletal disorders

R Vlashi, X Zhang, M Wu, G Chen - Genes & Diseases, 2023 - Elsevier
Wnt signaling executes an indispensable performance in osteoblast differentiation, bone
development, homeostasis, and remodeling. Wnt signals trigger the intracellular Wnt …

Wnt pathway extracellular components and their essential roles in bone homeostasis

N Martínez-Gil, N Ugartondo, D Grinberg, S Balcells - Genes, 2022 - mdpi.com
The Wnt pathway is involved in several processes essential for bone development and
homeostasis. For proper functioning, the Wnt pathway is tightly regulated by numerous …

Distinct DNA methylation profiles in bone and blood of osteoporotic and healthy postmenopausal women

S Reppe, TG Lien, YH Hsu, VT Gautvik, OK Olstad… - Epigenetics, 2017 - Taylor & Francis
ABSTRACT DNA methylation affects expression of associated genes and may contribute to
the missing genetic effects from genome-wide association studies of osteoporosis. To …

Mutations in known monogenic high bone mass loci only explain a small proportion of high bone mass cases

CL Gregson, L Wheeler, SA Hardcastle… - Journal of Bone and …, 2016 - academic.oup.com
High bone mass (HBM) can be an incidental clinical finding; however, monogenic HBM
disorders (eg, LRP5 or SOST mutations) are rare. We aimed to determine to what extent …

Alterations in DNA methylation profiles in cancellous bone of postmenopausal women with osteoporosis

Y Zhou, L Yang, H Wang, X Chen, W Jiang… - FEBS Open …, 2020 - Wiley Online Library
Osteoporosis is characterized by systemic microarchitecture impairment and bone loss,
which ultimately lead to fragility fractures. This disease is most common in older people …

SNPs in bone-related miRNAs are associated with the osteoporotic phenotype

L De-Ugarte, E Caro-Molina, M Rodríguez-Sanz… - Scientific reports, 2017 - nature.com
Biogenesis and function of microRNAs can be influenced by genetic variants in the pri-
miRNA sequences leading to phenotypic variability. This study aims to identify single …

Polymorphisms in the Runx2 and osteocalcin genes affect BMD in postmenopausal women: a systematic review and meta-analysis

S Sanyal, S Rajput, S Sadhukhan, S Rajender, A Mithal… - Endocrine, 2024 - Springer
Purpose Runx2 and osteocalcin have pivotal roles in bone homeostasis. Polymorphism of
these two genes could alter the function of osteoblasts and consequently bone mineral …

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

N Martínez-Gil, N Roca-Ayats, M Cozar… - International Journal of …, 2021 - mdpi.com
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 …

Functional Assessment of Coding and Regulatory Variants From the DKK1 Locus

N Martínez Gil, N Roca Ayats, N Atalay… - Journal of Bone and …, 2020 - academic.oup.com
The DKK1 gene encodes an extracellular inhibitor of the Wnt pathway with an important role
in bone tissue development, bone homeostasis, and different critical aspects of bone …

[HTML][HTML] On the association between Chiari malformation type 1, bone mineral density and bone related genes

N Martínez-Gil, L Mellibovsky, DML González… - Bone Reports, 2022 - Elsevier
Background Chiari malformation type 1 (C1M) is a neurological disease characterized by
herniation of the cerebellar tonsils below the foramen magnum. Cranial bone constriction is …