After discovering that lack of Sost/sclerostin expression is the cause of the high bone mass
human syndromes Van Buchem disease and sclerosteosis, extensive animal …

Abstracts Bone mainly functions as a supportive framework for the whole body and is the
major regulator of calcium homeostasis and hematopoietic function. Recently, an increasing …

Osteoporosis and sarcopenia are two age-related diseases that affect the quality of life in the
elderly. Initially, they were thought to be two independent diseases; however, recently …

Wnt signaling executes an indispensable performance in osteoblast differentiation, bone
development, homeostasis, and remodeling. Wnt signals trigger the intracellular Wnt …

Skeletal dysplasias are a diverse group of heritable diseases affecting bone and cartilage
growth. Throughout the years, the molecular defect underlying many of the diseases has …

Wnts are secreted, lipid-modified proteins that bind to different receptors on the cell surface
to activate canonical or non-canonical Wnt signaling pathways, which control various …

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal
homeostasis and encompass one of the most diverse groups among rare diseases. In this …

The discovery that two rare autosomal recessive high bone mass conditions were caused by
the loss of sclerostin expression prompted studies into its role in bone homeostasis. In this …

Bone development is a tightly regulated process. Several integrated signaling pathways
including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF and the transcription factors SOX9 …

Highlights•High/low bone density in rare human diseases have been linked to mutations in
components of WNT signaling.•Mutations in the receptors LRP4, 5 or 6 affect their affinity for …