Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. - Wikidata - awgldk - TriplyDB

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

http://www.wikidata.org/entity/Q34217171

about

NT5E mutations and arterial calcifications Characterization of conserved and nonconserved imprinted genes in swine Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy Idiopathic infantile arterial calcification presenting as fatal hypertensive cardiomyopathy Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.Crystals in hand.Pathophysiology of hypophosphatasia and the potential role of asfotase alfa Large animal models of cardiovascular disease Animal Models to Study Links between Cardiovascular Disease and Renal Failure and Their Relevance to Human Pathology Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders Phosphate/pyrophosphate and MV-related proteins in mineralisation: discoveries from mouse models Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia Genetic disorders of phosphate regulation Arterial stiffness, vascular calcification and bone metabolism in chronic kidney disease ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy Crystal structure of Enpp1, an extracellular glycoprotein involved in bone mineralization and insulin signaling Molecular Basis of Purinergic Signal Metabolism by Ectonucleotide Pyrophosphatase/Phosphodiesterases 4 and 1 and Implications in Stroke Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 Vascular calcification: pathobiology of a multifaceted disease Hierarchies of extracellular matrix and mineral organization in bone of the craniofacial complex and skeleton Cholesterol in vascular and valvular calcification Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice Medial vascular calcification revisited: review and perspectives Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.Idiopathic infantile arterial calcification with thrombotic microangiopathy--a unique case.Identification and characterization of novel tissue-nonspecific alkaline phosphatase inhibitors with diverse modes of action The emerging role of phosphate in vascular calcification.Ultrastructural and biochemical aspects of matrix vesicle-mediated mineralization Atrium of stone: A case of confined left atrial calcification without hemodynamic compromise.Assay format as a critical success factor for identification of novel inhibitor chemotypes of tissue-nonspecific alkaline phosphatase from high-throughput screening Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.Vascular Calcification: Current Genetics Underlying This Complex Phenomenon.Regulation of vascular smooth muscle cell calcification by extracellular pyrophosphate homeostasis: synergistic modulation by cyclic AMP and hyperphosphatemia Zebrafish enpp1 mutants exhibit pathological mineralization, mimicking features of generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum (PXE)

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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

http://www.wikidata.org/entity/Q34217171

description

2003 nî lūn-bûn

@nan

2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2003 թվականի օգոստոսին հրատարակված գիտական հոդված

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2003年の論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年論文

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2003年论文

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name

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@ast

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@en

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@nl

type

label

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@ast

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@en

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@nl

prefLabel

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@ast

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@en

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

@nl

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Nature Genetics

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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.

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Alan R Sinaiko

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Alex Knisely

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Anita Suk

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Bernd Hinrichs

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Dirk Schnabel

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Frank Rutsch

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Galen Schauer

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Hillary Vallance

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James McGill

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Jörg T Epplen

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10.1038/NG1221

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4

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34

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Peter Nürnberg

Andrea Superti-Furga

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2003-08-01T00:00:00Z

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