Disease: Osteoporosis-pseudoglioma syndrome
- <em>Lrp5</em> p.Val667Met Variant Compromises Bone Mineral Density and Matrix Properties in Osteoporosis
- A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice
- A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene
- A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats
- A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures
- A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome
- Aberrant and alternative splicing in skeletal system disease
- Analysis of LRP5 gene variants in a Chinese pedigree affected with Osteoporosis-pseudoglioma syndrome
- Application of anti-Sclerostin therapy in non-osteoporosis disease models
- Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men
- Asymmetrical ocular involvement and persistent fetal vasculature in an adult with osteoporosis-pseudoglioma syndrome
- Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5
- Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)
- Clinical and molecular findings in osteoporosis-pseudoglioma syndrome
- Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass
- Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP)
- Clinical Response to Treatment with Teriparatide in an Adolescent with Osteoporosis-Pseudoglioma Syndrome (OPPG): A Case Report
- Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome
- Congenital blindness and osteoporosis-pseudoglioma syndrome
- Critical Endothelial Regulation by LRP5 during Retinal Vascular Development
- Cytokines in bone diseases. Wnt signaling and osteoporosis-pseudoglioma syndrome
- Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome
- Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome (OPPG)
- Effects of natural compounds on Xenopus embryogenesis: a potential read out for functional drug discovery targeting Wnt/β-catenin signaling
- Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome
- Exploiting the WNT Signaling Pathway for Clinical Purposes
- Failure of operative treatment in a child with osteoporosis-pseudoglioma syndrome
- Familial exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome caused by a mutation in the LRP5 gene
- Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure
- Genetic analysis of Lrp5 function in osteoblast progenitors
- Genetic background of osteoporosis
- Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review
- Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children
- Higher SARS-CoV-2 detection of oropharyngeal compared with nasopharyngeal or saliva specimen for molecular testing: a multicentre randomised comparative accuracy study
- Inactivation of Lrp5 in osteocytes reduces young's modulus and responsiveness to the mechanical loading
- Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia
- LRP receptor family member associated bone disease
- Lrp5 and bone formation : A serotonin-dependent pathway
- Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR-Based Functional Screening of Osteoporosis Candidate Genes
- LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders
- LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia
- LRP5, Bone Mass Polymorphisms and Skeletal Disorders
- Metabolic bone disease in children : etiology and treatment options
- Modeling Rare Bone Diseases in Animals
- Modern approach to children with osteogenesis imperfecta
- Motor function improvement after intravenous pamidronate in osteoporosis pseudoglioma syndrome
- No mutations in the serotonin related TPH1 and HTR1B genes in patients with monogenic sclerosing bone disorders
- Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome
- Novel Homozygous Nonsense Mutation in <em>LRP5</em> Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
- Novel Homozygous Nonsense Mutation in the <em>LRP5</em> Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
- Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
- Novel LRP5 gene mutation in a patient with osteoporosis-pseudoglioma syndrome
- Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
- Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome
- Osteoporosis associated with gene mutation
- Osteoporosis Pseudoglioma Syndrome
- Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5
- Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients' management using bisphosphonates therapy
- Osteoporosis-pseudoglioma syndrome in South Africa
- Osteoporosis-pseudoglioma syndrome may not be caused by persistent fetal vasculature
- Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis
- Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece
- Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates
- Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier
- Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment
- Osteoporotic vertebral fractures during pregnancy: be aware of a potential underlying genetic cause
- Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome
- Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites
- Pregnancy-associated osteoporosis with a heterozygous deactivating LDL receptor-related protein 5 (LRP5) mutation and a homozygous methylenetetrahydrofolate reductase (MTHFR) polymorphism
- Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling
- Regulation of bone mass by serotonin: molecular biology and therapeutic implications
- Relevance of Wnt signaling for osteoanabolic therapy
- Reversing LRP5-dependent osteoporosis and SOST deficiency-induced sclerosing bone disorders by altering WNT signaling activity
- Role of the fibroblast growth factor 19 in the skeletal system
- Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome
- Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy
- Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density
- Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly
- Structure and function of the retina of low-density lipoprotein receptor-related protein 5 (Lrp5)-deficient rats
- Systemic bone diseases; clues for the pathogenetic mechanism of osteoporosis
- Targeting the Wnt/beta-catenin pathway to regulate bone formation in the adult skeleton
- Teriparatide increases bone mineral density in a man with osteoporosis pseudoglioma
- The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations
- The evolving therapeutic landscape of genetic skeletal disorders
- The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes
- The importance of the gastrointestinal tract in the control of bone mass accrual
- The role of the Wnt signaling pathway in osteoblast commitment and differentiation
- The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment
- Three years follow-up of pamidronate therapy in two brothers with osteoporosis-pseudoglioma syndrome (OPPG) carrying an LRP5 mutation
- Treatment and management of osteoporosis-pseudoglioma syndrome
- Value of rare low bone mass diseases for osteoporosis genetics
- Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome
- Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray
- Wnt signaling and osteoblastogenesis
- WNT signaling in bone homeostasis and disease: from human mutations to treatments
- Wnt signaling molecules related to osteoporosis
- Wnt signaling: a key regulator of bone mass
- Wnt-beta-catenin signaling in bone metabolism
- WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta
- Zebrafish mutants reveal unexpected role of Lrp5 in osteoclast regulation