Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. - Wikidata - wikimedia - TriplyDB

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

http://www.wikidata.org/entity/Q35203230

about

Evolution and divergence of the mammalian SAMD9/SAMD9L gene family M062 is a host range factor essential for myxoma virus pathogenesis and functions as an antagonist of host SAMD9 in human cells The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis.Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.SAMD9L inactivation promotes cell proliferation via facilitating G1-S transition in hepatitis B virus-associated hepatocellular carcinoma.Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing The hypoxia-inducible transcription factor ZNF395 is controlled by IĸB kinase-signaling and activates genes involved in the innate immune response and cancer.Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcification The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.Identification of Restriction Factors by Human Genome-Wide RNA Interference Screening of Viral Host Range Mutants Exemplified by Discovery of SAMD9 and WDR6 as Inhibitors of the Vaccinia Virus K1L-C7L- Mutant.Sterile α Motif Domain Containing 9 Is a Novel Cellular Interacting Partner to Low-Risk Type Human Papillomavirus E6 Proteins.SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis.The poxvirus C7L host range factor superfamily.Mineralization/anti-mineralization networks in the skin and vascular connective tissues Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.Disorders of phosphate homeostasis and tissue mineralisation.A new class of human mast cell and peripheral blood basophil stabilizers that differentially control allergic mediator release.Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.An interaction domain in human SAMD9 is essential for myxoma virus host-range determinant M062 antagonism of host anti-viral function.Epipodial Tentacle Gene Expression and Predetermined Resilience to Summer Mortality in the Commercially Important Greenlip Abalone, Haliotis laevigata.Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.Bilateral dystrophic calcinosis circumscripta in a cynomolgus macaque (Macaca fascicularis).Longitudinal system-based analysis of transcriptional responses to type I interferons.A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection.Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.

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P2860

Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

http://www.wikidata.org/entity/Q35203230

description

2007 nî lūn-bûn

@nan

2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Normophosphatemic familial tum ...... TNF-alpha responsive protein.

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Normophosphatemic familial tum ...... TNF-alpha responsive protein.

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Journal of Investigative Dermatology

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Normophosphatemic familial tum ...... TNF-alpha responsive protein.

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Danny Ben Amitai

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Eli Sprecher

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Gabriele Richard

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Ilana Chefetz

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Karl Skorecki

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Larissa Kogleck

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Margarita Indelman

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Neil Bradman

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Noam Adir

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Orit Topaz

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P2860

Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

Matrix metalloproteinase-2 contributes to tumor necrosis factor alpha induced apoptosis in cultured rat cardiac myocytes

Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23.

The p38 MAP kinase pathway as a therapeutic target in inflammatory disease.

Differential TNF-signaling in chronic inflammatory disorders.

Molecular mechanism of TNF signaling and beyond.

The biology of p38 kinase: a central role in inflammation.

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10.1038/SJ.JID.5701203

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6

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128

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5753802

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18094730

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Normophosphatemic familial tumoral calcinosis

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