Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter - Test2 - elhamkhani - TriplyDB

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

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

http://www.wikidata.org/entity/Q24681737

about

Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms 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 The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders Expression and in vivo rescue of human ABCC6 disease-causing mutants in mouse liver Recent advances in understanding hepatic drug transport Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum A mouse model of β-thalassemia shows a liver-specific down-regulation of Abcc6 expression Enhanced expression of basolateral multidrug resistance protein isoforms Mrp3 and Mrp5 in rat liver by LPS ABCC6 expression is regulated by CCAAT/enhancer-binding protein activating a primate-specific sequence located in the first intron of the gene Disease advocacy organizations catalyze translational research.Choroidal neovascularization and angioid streaks in pseudoxanthoma elasticum.Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data.Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel.Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes ABCC6 knockdown in HepG2 cells induces a senescent-like cell phenotype.Pseudoxanthoma elasticum Pseudoxanthoma elasticum, ocular manifestations, complications and treatment.Comparison 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.The ERK1/2-hepatocyte nuclear factor 4alpha axis regulates human ABCC6 gene expression in hepatocytes.A family of drug transporters: the multidrug resistance-associated proteins.Pseudoxanthoma elasticum revealed.The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum Molecular genetics of pseudoxanthoma elasticum.The genetics of human skin disease.Repositioning of Tyrosine Kinase Inhibitors as Antagonists of ATP-Binding Cassette Transporters in Anticancer Drug Resistance Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum.Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.The MRP family of drug efflux pumps.ABCC6 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 ABCC6 DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help?

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P2860

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

http://www.wikidata.org/entity/Q24681737

description

2000 nî lūn-bûn

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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2000 թվականի մայիսին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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Proceedings of the National Academy of Sciences of the United States of America

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Pseudoxanthoma elasticum: muta ...... ing cassette (ABC) transporter

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A M Christiano

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F Ringpfeil

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J Uitto

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M G Lebwohl

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P2860

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome

A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

Cloning and characterization of a novel human cDNA that has DNA similarity to the conserved region of the collagenase gene family

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

Function, evolution and structure of multidrug resistance protein (MRP).

Frontiers in research on cystic fibrosis: understanding its molecular and chemical basis and relationship to the pathogenesis of the disease.

Multidrug resistance protein MRP1, glutathione, and related enzymes. Their importance in acute myeloid leukemia.

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scholarly article

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3101862

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10.1073/PNAS.100041297

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11

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97

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2000-05-23T00:00:00Z

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12505737

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10811882

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transmembrane protein

P932

18548

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