Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13 - Wikidata - wikimedia - TriplyDB

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

http://www.wikidata.org/entity/Q24675063

about

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density cDNA cloning and characterization of human Delta5-desaturase involved in the biosynthesis of arachidonic acid A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13)Syndromes with congenital brittle bones Critical Endothelial Regulation by LRP5 during Retinal Vascular Development LRP5 and LRP6 are not required for protective antigen-mediated internalization or lethality of anthrax lethal toxin Regulation of Wnt/β-catenin signaling within and from osteocytes Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood.Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis Silencing Dkk1 expression rescues dexamethasone-induced suppression of primary human osteoblast differentiation.The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.The effect of antiresorptives on bone quality.Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease.Basic and clinical aspects of osteoporosis in inflammatory bowel disease.Lrp5 is not required for the proliferative response of osteoblasts to strain but regulates proliferation and apoptosis in a cell autonomous manner.Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage.HIV-1 protein induced modulation of primary human osteoblast differentiation and function via a Wnt/β-catenin-dependent mechanism.Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27.Modifying Role of GSTP1 Polymorphism on the Association between Tea Fluoride Exposure and the Brick-Tea Type Fluorosis.Relevance of Wnt signaling for osteoanabolic therapy.A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.LRP receptor family member associated bone disease Update on Wnt signaling in bone cell biology and bone disease.Value of rare low bone mass diseases for osteoporosis genetics.Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5 LRP5 and bone mass regulation: Where are we now?Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.Embryonic ablation of osteoblast Smad4 interrupts matrix synthesis in response to canonical Wnt signaling and causes an osteogenesis-imperfecta-like phenotype.How genomics has informed our understanding of the pathogenesis of osteoporosis.Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling Wnt and the Wnt signaling pathway in bone development and disease.How rare bone diseases have informed our knowledge of complex diseases.Searching for gene defects that cause high bone mass.

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P2860

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

http://www.wikidata.org/entity/Q24675063

description

1996 nî lūn-bûn

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1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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1996 թվականի հուլիսին հրատարակված գիտական հոդված

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1996年の論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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1996年論文

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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Osteoporosis-pseudoglioma synd ...... to chromosome region 11q12-13

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P2860

Assignment of the beta-arrestin 1 gene (ARRB1) to human chromosome 11q13

A null mutation in the human CNTF gene is not causally related to neurological diseases

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

Report of the fourth international workshop on human chromosome 11 mapping 1994

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

cDNA cloning and chromosomal localization of the human beta-adrenergic receptor kinase.

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies

Structural organization of the genes encoding human and murine FK506-binding protein (FKBP) 13 and comparison to FKBP1.

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