ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis
about
Mutation of POC1B in a severe syndromic retinal ciliopathyHRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosisBiology of Heme in Mammalian Erythroid Cells and Related DisordersDelivery of drugs bound to erythrocytes: new avenues for an old intravascular carrierErythroid heme biosynthesis and its disordersNew insights on hereditary erythrocyte membrane defectsGenome-wide identification, characterization and phylogenetic analysis of 50 catfish ATP-binding cassette (ABC) transporter genesTMEM14C is required for erythroid mitochondrial heme metabolismScreening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individualsRole 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 metazoansSMIM1 is a type II transmembrane phosphoprotein and displays the Vel blood group antigen at its carboxyl-terminusHeme transport and erythropoiesisNovel hematopoietic target genes in the NRF2-mediated transcriptional pathway.Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemiaThe 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 studiesCoupling 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 cytometryQuantitation 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
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@ast
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@en
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@nl
type
label
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@ast
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@en
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@nl
prefLabel
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@ast
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@en
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
ABCB6 is dispensable for eryth ...... w blood group system Langereis
@en
P2093
Bach-Nga Pham
Bryan A Ballif
Camille Sureau
Carole Saison
Hideo Takahashi
Jean-Charles Deybach
Jean-Pierre Cartron
Junko Takahashi
Lionel Arnaud
Mitsunobu Tanaka
P2860
P2888
P3181
P356
10.1038/NG.1069
P407
P577
2012-01-15T00:00:00Z