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Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass
SummaryOsteoporosis-pseudoglioma syndrome (OPPG) and LRP5 high bone mass (LRP5-HBM) are two rare bone diseases with opposite clinical symptoms caused...
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Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy
SummaryThis study describes the clinical, radiological, and molecular data of four new patients with osteoporosis-pseudoglioma syndrome and assesses...
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Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria
BackgroundHereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal...
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A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting
The SORL1 gene has recently emerged as a strong Alzheimer’s Disease (AD) risk gene. Over 500 different variants have been identified in the gene and...
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Drug Treatment of Low Bone Mass and Other Bone Conditions in Pediatric Patients
Osteoporosis may affect young individuals, albeit infrequently. In childhood, bone mass increases, reaching its peak between the second and third...
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Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal-recessive disorder, characterized by severe osteoporosis and early-onset blindness....
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Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular...
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Wnt/β-catenin signaling components and mechanisms in bone formation, homeostasis, and disease
Wnts are secreted, lipid-modified proteins that bind to different receptors on the cell surface to activate canonical or non-canonical Wnt signaling...
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The Genetics of Atypical Femur Fractures—a Systematic Review
Purpose of ReviewAtypical femur fractures (AFFs) are rare subtrochanteric or diaphyseal fractures regarded as side effects of bisphosphonates (BPs),...
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Role of Wnt signaling and sclerostin in bone and as therapeutic targets in skeletal disorders
SummaryWnt signaling and its bone tissue–specific inhibitor sclerostin are key regulators of bone homeostasis. The therapeutic potential of...
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The evolving therapeutic landscape of genetic skeletal disorders
BackgroundRare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis,...
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Intraoperative conversion from laparoscopic gastrectomy to an open procedure: a decade of experience in a Japanese high-volume center
BackgroundAlthough laparoscopic gastrectomy (LG) is a widely accepted treatment for gastric cancer, conversion to laparotomy is sometimes required....
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Looking at Mountains: Role of Sustained Hypoxia in Regulating Bone Mineral Homeostasis in Relation to Wnt Pathway and Estrogen
Deteriorated bone microarchitecture is a major health concern affecting millions worldwide, amounting to high mortality along with psychological,...
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Sclerostin: from bench to bedside
Skeletal integrity is maintained by a meticulous balance between bone resorption and bone formation, and recent studies have revealed the essential...
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Inducible expression of Wnt7b promotes bone formation in aged mice and enhances fracture healing
There remain unmet clinical needs for safe and effective bone anabolic therapies to treat aging-related osteoporosis and to improve fracture healing...
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Anabolic Therapy for the Treatment of Osteoporosis in Childhood
Purpose of ReviewNumerous forms of osteoporosis in childhood are characterized by low bone turnover (for example, osteoporosis due to neuromuscular...
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Role of thyroid hormones in craniofacial development
The development of the craniofacial skeleton relies on complex temporospatial organization of diverse cell types by key signalling molecules. Even...
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Hypoxia Signaling in the Skeleton: Implications for Bone Health
Purpose of ReviewWe reviewed recent literature on oxygen sensing in osteogenic cells and its contribution to development of a skeletal phenotype, the...
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Exploiting the WNT Signaling Pathway for Clinical Purposes
Purpose of ReviewThe goal of this paper is to evaluate critically the literature published over the past 3 years regarding the Wnt signaling pathway....
