A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
about
Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouseEctopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcificationEvolution and divergence of the mammalian SAMD9/SAMD9L gene familyM062 is a host range factor essential for myxoma virus pathogenesis and functions as an antagonist of host SAMD9 in human cellsThe 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.Familial tumoral calcinosis: from characterization of a rare phenotype to the pathogenesis of ectopic calcificationNormophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development.Hyperphosphatemic familial tumoral calcinosis: odontostomatologic management and pathological features.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.Structural basis for antagonizing a host restriction factor by C7 family of poxvirus host-range proteins.The poxvirus C7L host range factor superfamily.Endocrine functions of bone in mineral metabolism regulation.Mineralization/anti-mineralization networks in the skin and vascular connective tissuesAtaxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.A Systematic single nucleotide polymorphism screen to fine-map alcohol dependence genes on chromosome 7 identifies association with a novel susceptibility gene ACN9Familial 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.-7/7q- syndrome in myeloid-lineage hematopoietic malignancies: attempts to understand this complex disease entity.Hyperphosphatemic familial tumoral calcinosis: genetic models of deficient FGF23 action.Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.Familial tumoral calcinosis in two Chinese patients: a case series.An interaction domain in human SAMD9 is essential for myxoma virus host-range determinant M062 antagonism of host anti-viral function.Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma.Phospho-Smad1 modulation by nedd4 E3 ligase in BMP/TGF-β signaling.Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.Fibroblast Growth Factor 23 (FGF23) and Disorders of Phosphate Metabolism[FGF23 and Klotho: the new cornerstones of phosphate/calcium metabolism].A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection.Conceptus-induced changes in the endometrial transcriptome: how soon does the cow know she is pregnant?A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.Progressive extreme heterotopic calcification
P2860
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P2860
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
description
2006 nî lūn-bûn
@nan
2006 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@ast
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@en
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@en-gb
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@nl
type
label
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@ast
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@en
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@en-gb
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@nl
prefLabel
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@ast
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@en
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@en-gb
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@nl
P2093
P2860
P356
P1476
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
@en
P2093
Aryeh Metzker
Dan Geiger
Dani Bercovich
Eli Sprecher
Gabriele Richard
Ilana Chefetz
Margarita Indelman
Mordechai Choder
Orit Topaz
Reuven Bergman
P2860
P304
P356
10.1086/508069
P407
P50
P577
2006-10-01T00:00:00Z