Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
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Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease courseA spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumMultidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseasesPseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanismsMutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticumPseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutationsThe serum protein alpha 2-Heremans-Schmid glycoprotein/fetuin-A is a systemically acting inhibitor of ectopic calcificationPseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatmentFrom variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disordersEducational paper. Connective tissue disorders with vascular involvement: from gene to therapyExpression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liverEffects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1Extracutaneous ultrastructural alterations in pseudoxanthoma elasticumAbcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion modelABCC6 deficiency is associated with activation of BMP signaling in liver and kidneyABCC6 localizes to the mitochondria-associated membraneMutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromeA mouse model of β-thalassemia shows a liver-specific down-regulation of Abcc6 expressionMolecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporterBiobanking: The Melding of Research with Clinical CareABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the geneTargeting multidrug resistance in cancerStabilization of Nucleotide Binding Domain Dimers Rescues ABCC6 Mutants Associated with Pseudoxanthoma Elasticum.Disease advocacy organizations catalyze translational research.Intravascular ultrasound findings of coronary wall morphology in a patient with pseudoxanthoma elasticum.High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum.Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data.Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expressionGenetics in arterial calcification: pieces of a puzzle and cogs in a wheel.The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticumThe emerging role of phosphate in vascular calcification.[Generalized elastic and evolving pseudoxanthoma in a black].ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype.Pseudoxanthoma elasticumXenobiotic, bile acid, and cholesterol transporters: function and regulation.Pseudoxanthoma elasticum, ocular manifestations, complications and treatment.Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticumComparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration.Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
P2860
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P2860
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
description
2000 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հունիսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2000
@ast
im Juni 2000 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2000/06/01)
@sk
vědecký článek publikovaný v roce 2000
@cs
wetenschappelijk artikel (gepubliceerd op 2000/06/01)
@nl
наукова стаття, опублікована в червні 2000
@uk
name
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@ast
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@en
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@nl
type
label
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@ast
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@en
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@nl
prefLabel
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@ast
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@en
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@nl
P2093
P3181
P356
P1433
P1476
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum
@en
P2093
A. Richards
A. de Paepe
B. Bacchelli
C. D. Boyd
C. Tschuch
F. M. Pope
I. Pasquali-Ronchetti
K. Csiszar
L. Bercovitch
O. Le Saux
P2888
P304
P3181
P356
10.1038/76102
P407
P577
2000-06-01T00:00:00Z