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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

http://www.wikidata.org/entity/Q24533380

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Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases 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 High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum.Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes Pseudoxanthoma elasticum Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues Pseudoxanthoma Elasticum: A Novel Mutation in the ABCC6 Gene That Affects Eye Manifestations of the Disease.Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 HNF4alpha and NF-E2 are key transcriptional regulators of the murine Abcc6 gene expression.DNA methylation and Sp1 binding determine the tissue-specific transcriptional activity of the mouse Abcc6 promoter Pseudoxanthoma elasticum with periumbilical perforation in a nullipara.The molecular and physiological roles of ABCC6: more than meets the eye.ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.Transmembrane transport of endo- and xenobiotics by mammalian ATP-binding cassette multidrug resistance proteins.ABCC6 Mutation in Patients with Angioid Streaks Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.Paediatric pseudoxanthoma elasticum with cardiovascular involvement The 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.Pseudoxanthoma elasticum and sudden death.Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations.Pseudoxanthoma elasticum: genetic diagnostic markers.The dMRP/CG6214 gene of Drosophila is evolutionarily and functionally related to the human multidrug resistance-associated protein family.ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance.Multiple membrane-associated tryptophan residues contribute to the transport activity and substrate specificity of the human multidrug resistance protein, MRP1.Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin.Pseudoxanthoma elasticum-like fibers in the inflamed skin of patients without pseudoxanthoma elasticum.Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy.Development of a rapid, reliable genetic test for pseudoxanthoma elasticum.Coordinated orphan disease research: yes, we can!Elastosis perforans serpiginosa associated with pseudo-pseudoxanthoma elasticum during treatment of Wilson's disease with penicillamine.

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P2860

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

http://www.wikidata.org/entity/Q24533380

description

2001 nî lūn-bûn

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2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի օգոստոսին հրատարակված գիտական հոդված

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2001年の論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年論文

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2001年论文

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name

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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prefLabel

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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American Journal of Human Genetics

P1476

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

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P2093

A De Paepe

http://www.w3.org/2001/XMLSchema#string

A S Marais

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C D Boyd

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C Sachsinger

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C Silvestri

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C Treiber

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D L Viljoen

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E W Johnson

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F M Pope

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H H Göring

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P2860

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

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

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

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

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis

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

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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10.1086/323704

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