Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms - sprookjes - yvandenbroek - TriplyDB

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

http://www.wikidata.org/entity/Q24623387

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Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver Genetics of inherited cardiocutaneous syndromes: a review A mouse model of β-thalassemia shows a liver-specific down-regulation of Abcc6 expression Large-scaled metabolic profiling of human dermal fibroblasts derived from pseudoxanthoma elasticum patients and healthy controls ABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the gene The abcc6a gene expression is required for normal zebrafish development Zebrafish: a model system to study heritable skin diseases.Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum Xenobiotic, bile acid, and cholesterol transporters: function and regulation.Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum.Pseudoxanthoma elasticum, ocular manifestations, complications and treatment.Dietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)).Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.The ERK1/2-hepatocyte nuclear factor 4alpha axis regulates human ABCC6 gene expression in hepatocytes.Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications Pseudoxanthoma elasticum papillary dermal elastolysis: a case report The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease Pseudoxanthoma elasticum: report of two cases Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum Pseudoxanthoma elasticum: A review of 86 cases in China.Gla-rich protein is a novel vitamin K-dependent protein present in serum that accumulates at sites of pathological calcifications.Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum.Copy number variation in the ATP-binding cassette transporter ABCC6 gene and ABCC6 pseudogenes in patients with pseudoxanthoma elasticum Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 Cyclosporine A Treatment Inhibits Abcc6-Dependent Cardiac Necrosis and Calcification following Coxsackievirus B3 Infection in Mice.Drug Transporters and Na+/H+ Exchange Regulatory Factor PSD-95/Drosophila Discs Large/ZO-1 Proteins Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene.Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ).A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse.Mechanisms of arterial remodeling: lessons from genetic diseases.Pseudoxanthoma elasticum of the skin with involvement of the oral cavity

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Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

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2009 nî lūn-bûn

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2009 թուականի Յունուարին հրատարակուած գիտական յօդուած

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Pseudoxanthoma elasticum: clin ...... s and putative pathomechanisms

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J.1600-0625.2008.00795.X

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Experimental Dermatology

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Pseudoxanthoma elasticum: clin ...... s and putative pathomechanisms

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András Váradi

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Ellen Pfendner

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Qiaoli Li

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Qiujie Jiang

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P2860

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

Flexibility in the ABC transporter MsbA: Alternating access with a twist.

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Structure of the multidrug ABC transporter Sav1866 from Staphylococcus aureus in complex with AMP-PNP

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Mutations in ABCC6 cause pseudoxanthoma elasticum

Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease

Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum

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10.1111/J.1600-0625.2008.00795.X

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