Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
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Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanismsPseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutationsPseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatmentThe ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex DisordersResearch Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization DisordersExpression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liverAbcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion modelDisruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticumPopulation genomics reveal recent speciation and rapid evolutionary adaptation in polar bearsABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the geneA genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.ABC Transport Proteins in Cardiovascular Disease-A Brief Summary.Extending the use of GWAS data by combining data from different genetic platforms.Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypesPseudoxanthoma elasticumPseudoxanthoma elasticum, ocular manifestations, complications and treatment.The ERK1/2-hepatocyte nuclear factor 4alpha axis regulates human ABCC6 gene expression in hepatocytes.Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissuesMutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implicationsThe R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery diseaseTranscription profiling in human platelets reveals LRRFIP1 as a novel protein regulating platelet function.Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticumABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum.Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6Pseudoxanthoma elasticum: molecular genetics and putative pathomechanismsThe molecular and physiological roles of ABCC6: more than meets the eye.Monogenic vessel diseases related to ischemic stroke: a clinical approach.ABCC6 Out From the Cold: Identification of the ABCC6 Substrate as a Therapy for Pseudoxanthoma Elasticum and Cardiovascular DiseaseThe level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury.Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum.Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.ABCC6 as a target in pseudoxanthoma elasticum.Pseudoxanthoma elasticum: genetic diagnostic markers.Identification of a DNA methylation-dependent activator sequence in the pseudoxanthoma elasticum gene, ABCC6.Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.Disseminated arterial calcification and enhanced myogenic response are associated with abcc6 deficiency in a mouse model of pseudoxanthoma elasticum.PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS.New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6⁻/⁻).
P2860
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P2860
Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease
description
2002 nî lūn-bûn
@nan
2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@ast
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@en
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@nl
type
label
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@ast
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@en
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@nl
prefLabel
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@ast
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@en
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@nl
P2093
P1433
P1476
Frequent mutation in the ABCC6 ...... nce of coronary artery disease
@en
P2093
Aeilko H Zwinderman
Arthur A B Bergen
Jacoline B ten Brink
John J P Kastelein
Jolanda M A Boer
Jurgen J Wegman
Mieke D Trip
Xiaofeng Hu
Yvo M Smulders
P356
10.1161/01.CIR.0000028420.27813.C0
P407
P577
2002-08-13T00:00:00Z