Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. - Wikidata - awgldk - TriplyDB

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

http://www.wikidata.org/entity/Q34628985

about

Inhibition of TGF-β signaling in mesenchymal stem cells of subchondral bone attenuates osteoarthritis Role of TGF-β in a mouse model of high turnover renal osteodystrophy.Genes Downregulated in Endometriosis Are Located Near the Known Imprinting Genes.TGF-β signaling and the development of osteoarthritis Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.Rapid skeletal turnover in a radiographic mimic of osteopetrosis.The Role of Inflammatory Cytokines, the RANKL/OPG Axis, and the Immunoskeletal Interface in Physiological Bone Turnover and Osteoporosis.Bone marrow mesenchymal stem cells and TGF-β signaling in bone remodeling.Transforming Growth Factor β1 (TGF-β1) in the Sera of Postmenopausal Osteoporotic Females.Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.How rare bone diseases have informed our knowledge of complex diseases.Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus.Camurati-engelmann disease association with hypogonadism and primary hypothyroidism.Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.The c.29T>C polymorphism of the transforming growth factor beta-1 (TGFB1) gene, bone mineral density and the occurrence of low-energy fractures in patients with inflammatory bowel disease.Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II).Transforming growth factor-β in stem cells and tissue homeostasis.TGF-β and osteoarthritis--the good and the bad.Identification of genetic modifiers of monogenic (bone) diseases: New tools available, but with limitations

P2860

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P2860

Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.

http://www.wikidata.org/entity/Q34628985

description

2011 nî lūn-bûn

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2011 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2011 թվականի մայիսին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

Camurati-Engelmann disease: un ...... TNFSF11 encoding RANK ligand.

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Camurati-Engelmann disease: un ...... TNFSF11 encoding RANK ligand.

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Camurati-Engelmann disease: un ...... TNFSF11 encoding RANK ligand.

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Camurati-Engelmann disease: un ...... TNFSF11 encoding RANK ligand.

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P1433

Journal of Bone and Mineral Research

P1476

Camurati-Engelmann disease: un ...... TNFSF11 encoding RANK ligand.

@en

P2093

Deborah V Novack

http://www.w3.org/2001/XMLSchema#string

Deborah Wenkert

http://www.w3.org/2001/XMLSchema#string

Michael P Whyte

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Steven Mumm

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William G Totty

http://www.w3.org/2001/XMLSchema#string

Xiafang Zhang

http://www.w3.org/2001/XMLSchema#string

P2860

The requirement for the p53 proline-rich functional domain for mediation of apoptosis is correlated with specific PIG3 gene transactivation and with transcriptional repression.

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones

Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

Structural basis for the binding of proline-rich peptides to SH3 domains

Engelmann's disease of bone--a systemic disorder?

Hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature.

Diaphyseal dysplasia associated with anemia.

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

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920-933

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scholarly article

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10.1002/JBMR.283

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5

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26

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2011-05-01T00:00:00Z

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51097776

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21541994

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3179308

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