Mutations in WNT1 cause different forms of bone fragility - Wikidata - wikimedia - TriplyDB

Mutations in WNT1 cause different forms of bone fragility

Mutations in WNT1 cause different forms of bone fragility

http://www.wikidata.org/entity/Q24336287

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Recent developments in osteogenesis imperfecta Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation New genes in bone development: what's new in osteogenesis imperfecta WNT signaling in bone development and homeostasis Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment Wnt signaling in bone and muscle Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia Advances in Skeletal Dysplasia Genetics Contemporary Approaches for Identifying Rare Bone Disease Causing Genes.Managing the patient with osteogenesis imperfecta: a multidisciplinary approach.The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations Disulfide bond requirements for active Wnt ligands.The revolution in human monogenic disease mapping.Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families Human growth is associated with distinct patterns of gene expression in evolutionarily conserved networks.Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.Relevance of Wnt signaling for osteoanabolic therapy.Recessive osteogenesis imperfecta caused by missense mutations in SPARC.Sclerostin inhibition: a novel therapeutic approach in the treatment of osteoporosis.Wnt16 Is Associated with Age-Related Bone Loss and Estrogen Withdrawal in Murine Bone.TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.Value of rare low bone mass diseases for osteoporosis genetics.Osteoclast TGF-β Receptor Signaling Induces Wnt1 Secretion and Couples Bone Resorption to Bone Formation.Rictor is required for optimal bone accrual in response to anti-sclerostin therapy in the mouse.Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations The sclerostin-neutralizing antibody AbD09097 recognizes an epitope adjacent to sclerostin's binding site for the Wnt co-receptor LRP6 Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans.Featured Article: Transcriptional landscape analysis identifies differently expressed genes involved in follicle-stimulating hormone induced postmenopausal osteoporosis Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.A brilliant breakthrough in OI type V.The WNT system: background and its role in bone.A look behind the scenes: the risk and pathogenesis of primary osteoporosis.IFITM5 mutations and osteogenesis imperfecta.Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis Bone Material Properties in Osteogenesis Imperfecta.

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Mutations in WNT1 cause different forms of bone fragility

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2013 nî lūn-bûn

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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2013 թվականի ապրիլին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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Mutations in WNT1 cause different forms of bone fragility

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J.AJHG.2013.02.010

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American Journal of Human Genetics

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Mutations in WNT1 cause different forms of bone fragility

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Aileen M Barnes

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Bernhard Zabel

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Björn Fischer

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Christian Netzer

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Claudia Y Janda

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Eckhard Schönau

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Ekkehart Lausch

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Elena Makareeva

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Filippo Beleggia

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Friederike Koerber

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P2860

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

Structural basis of Wnt recognition by Frizzled

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

MolProbity: all-atom structure validation for macromolecular crystallography

Features and development of Coot

Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

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565-74

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4369233

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10.1016/J.AJHG.2013.02.010

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4

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Hülya Kayserili

Victor L Ruiz-Perez

José A Caparrós-Martín

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2013-04-04T00:00:00Z

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236053706

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bone development

Wnt family member 1

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3617378

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