Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. - Wikidata - wikimedia - TriplyDB

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

http://www.wikidata.org/entity/Q34106687

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An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT/beta-catenin signaling Mutations in WNT1 cause different forms of bone fragility Lrp5 functions in bone to regulate bone mass The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease Rare causes of osteoporosis Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization.Intrinsic disorder in spondins and some of their interacting partners.Molecular biology of bone remodeling: implications for new therapeutic targets for osteoporosis.The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Recent advances in osteogenesis imperfecta.Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.Targeting endothelium-pericyte cross talk by inhibiting VEGF receptor signaling attenuates kidney microvascular rarefaction and fibrosis.The role of the hypoxia response in shaping retinal vascular development in the absence of Norrin/Frizzled4 signaling.Familial exudative vitreoretinopathy and related retinopathies.LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).High Bone Mass-Causing Mutant LRP5 Receptors Are Resistant to Endogenous Inhibitors In Vivo Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.Sclerostin inhibition: a novel therapeutic approach in the treatment of osteoporosis.Potential blindness in children of patients with hereditary bone disease.A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5 Fractures on bisphosphonates in osteoporosis pseudoglioma syndrome (OPPG): pQCT shows poor bone density and structure.A specific role for phosphoinositide 3-kinase and AKT in osteoblasts?Unexplained fractures in infancy: looking for fragile bones.Identification of FZD4 and LRP5 mutations in 11 of 49 families with familial exudative vitreoretinopathy.Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5 Diseases of Wnt signaling.Mechanotransduction in bone tissue: The A214V and G171V mutations in Lrp5 enhance load-induced osteogenesis in a surface-selective manner.The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy Wnt and the Wnt signaling pathway in bone development and disease.Pathophysiology of tobacco smoke exposure: recent insights from comparative and redox proteomics.Sclerosing bone dysplasias: leads toward novel osteoporosis treatments.Congenital Bilateral Retinal Detachment in Two Siblings with Osteoporosis-Pseudoglioma Syndrome.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.Tumor necrosis factor receptor superfamily member 19 (TNFRSF19) regulates differentiation fate of human mesenchymal (stromal) stem cells through canonical Wnt signaling and C/EBP.Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

http://www.wikidata.org/entity/Q34106687

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2005 nî lūn-bûn

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2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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type

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

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American Journal of Human Genetics

P1476

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

@en

P2093

Cynthia F Bartels

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Deborah K Schelling

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Minrong Ai

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Osteoporosis-Pseudoglioma Collaborative Group

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Shauna Heeger

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P2860

LDL-receptor-related proteins in Wnt signal transduction

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

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