ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis - Wikidata - awgldk - TriplyDB

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

http://www.wikidata.org/entity/Q28257493

about

Mutation of POC1B in a severe syndromic retinal ciliopathy HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis Biology of Heme in Mammalian Erythroid Cells and Related Disorders Delivery of drugs bound to erythrocytes: new avenues for an old intravascular carrier Erythroid heme biosynthesis and its disorders New insights on hereditary erythrocyte membrane defects Genome-wide identification, characterization and phylogenetic analysis of 50 catfish ATP-binding cassette (ABC) transporter genes TMEM14C is required for erythroid mitochondrial heme metabolism Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals Role of the N-terminal transmembrane domain in the endo-lysosomal targeting and function of the human ABCB6 protein.Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.Shifting the paradigm: the putative mitochondrial protein ABCB6 resides in the lysosomes of cells and in the plasma membrane of erythrocytes.The Concise Guide to PHARMACOLOGY 2013/14: transporters.BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data.Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.Functional coupling of ATP-binding cassette transporter Abcb6 to cytochrome P450 expression and activity in liver.Lack of the nucleoside transporter ENT1 results in the Augustine-null blood type and ectopic mineralization.One ring to rule them all: trafficking of heme and heme synthesis intermediates in the metazoans SMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminus Heme transport and erythropoiesis Novel hematopoietic target genes in the NRF2-mediated transcriptional pathway.Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.Mitochondrial ABC transporters function: the role of ABCB10 (ABC-me) as a novel player in cellular handling of reactive oxygen species.Efficient purification and reconstitution of ATP binding cassette transporter B6 (ABCB6) for functional and structural studies Coupling heme and iron metabolism via ferritin H chain.Heme in pathophysiology: a matter of scavenging, metabolism and trafficking across cell membranes.Heme and erythropoieis: more than a structural role.Regulation of heme biosynthesis and transport in metazoa.The roles of NRF2 in modulating cellular iron homeostasis.Advances in understanding the pathogenesis of the red cell volume disorders.Iron and copper in mitochondrial diseases.Red blood cell microparticles and blood group antigens: an analysis by flow cytometry Quantitation of Lan antigen in Lan+, Lan+(w) and Lan- phenotypes.International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Cancun report (2012).The ABCB6 mutation p.Arg192Trp is a recessive mutation causing the Lan- blood type.Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype.Alleles of the LAN blood group system: molecular and serologic investigations.Novel alleles of Lan- in Japanese populations.

P2860

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P2860

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

http://www.wikidata.org/entity/Q28257493

description

2012 nî lūn-bûn

@nan

2012 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հունվարին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

@zh-hk

2012年論文

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2012年論文

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2012年论文

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name

ABCB6 is dispensable for eryth ...... w blood group system Langereis

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ABCB6 is dispensable for eryth ...... w blood group system Langereis

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ABCB6 is dispensable for eryth ...... w blood group system Langereis

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type

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ABCB6 is dispensable for eryth ...... w blood group system Langereis

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ABCB6 is dispensable for eryth ...... w blood group system Langereis

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ABCB6 is dispensable for eryth ...... w blood group system Langereis

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prefLabel

ABCB6 is dispensable for eryth ...... w blood group system Langereis

@ast

ABCB6 is dispensable for eryth ...... w blood group system Langereis

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ABCB6 is dispensable for eryth ...... w blood group system Langereis

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Nature Genetics

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ABCB6 is dispensable for eryth ...... w blood group system Langereis

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P2093

Bach-Nga Pham

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Bryan A Ballif

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Camille Sureau

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Carole Saison

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

Hideo Takahashi

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

Jean-Charles Deybach

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Jean-Pierre Cartron

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Junko Takahashi

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

Lionel Arnaud

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

Mitsunobu Tanaka

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

P2860

Isolation of a genomic clone containing the promoter region of the human ATP binding cassette (ABC) transporter, ABCB6

Identification of a mammalian mitochondrial porphyrin transporter

Human ABCB6 localizes to both the outer mitochondrial membrane and the plasma membrane

Target-decoy search strategy for increased confidence in large-scale protein identifications by mass spectrometry

Targeting multidrug resistance in cancer

Role of transferrin receptor and the ABC transporters ABCB6 and ABCB7 for resistance and differentiation of tumor cells towards artesunate.

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Mammalian ABC transporters in health and disease.

Predicting drug sensitivity and resistance: profiling ABC transporter genes in cancer cells.

Alteration in copy numbers of genes as a mechanism for acquired drug resistance.

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170-3

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scholarly article

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4170708

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10.1038/NG.1069

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2

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P478

44

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Thierry Peyrard

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2012-01-15T00:00:00Z

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221748804

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22246506

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3664204

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