The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein
about
Functional reconstitution into liposomes of purified human RhCG ammonia channelHuman RhAG ammonia channel is impaired by the Phe65Ser mutation in overhydrated stomatocytic red cellsLoss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65SCation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human diseaseMissense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.Imaging of the diffusion of single band 3 molecules on normal and mutant erythrocytes.The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytesDehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channelsSNPs altering ammonium transport activity of human Rhesus factors characterized by a yeast-based functional assay.Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.Collecting duct-specific Rh C glycoprotein deletion alters basal and acidosis-stimulated renal ammonia excretionStructural and biochemical analysis of a thermostable membrane-bound stomatin-specific protease.Determinants of erythrocyte hydration.Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1).Hereditary red cell membrane defects: diagnostic and clinical aspects.Tropomodulins: pointed-end capping proteins that regulate actin filament architecture in diverse cell types.Hereditary red cell membrane disorders and laboratory diagnostic testing.Disorders of erythrocyte volume homeostasis.Advances in understanding the pathogenesis of the red cell volume disorders.South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.Red cell membrane disorders.Compound heterozygosity of two novel RHAG alleles leads to a considerable disruption of the Rh complex.Recommendations regarding splenectomy in hereditary hemolytic anemias.Stomatin-like protein-1 interacts with stomatin and is targeted to late endosomes.The hereditary stomatocytosesDisorders of erythrocyte hydration.Hereditary stomatocytosis: An underdiagnosed condition.Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice.Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.Nitrogen isotope signature evidences ammonium deprotonation as a common transport mechanism for the AMT-Mep-Rh protein superfamily
P2860
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P2860
The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein
description
2009 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2009
@ast
im Februar 2009 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2009/02/05)
@sk
vědecký článek publikovaný v roce 2009
@cs
wetenschappelijk artikel (gepubliceerd op 2009/02/05)
@nl
наукова стаття, опублікована в лютому 2009
@uk
مقالة علمية (نشرت في 5-2-2009)
@ar
name
The monovalent cation leak in ...... the Rh-associated glycoprotein
@ast
The monovalent cation leak in ...... the Rh-associated glycoprotein
@en
The monovalent cation leak in ...... the Rh-associated glycoprotein
@nl
type
label
The monovalent cation leak in ...... the Rh-associated glycoprotein
@ast
The monovalent cation leak in ...... the Rh-associated glycoprotein
@en
The monovalent cation leak in ...... the Rh-associated glycoprotein
@nl
prefLabel
The monovalent cation leak in ...... the Rh-associated glycoprotein
@ast
The monovalent cation leak in ...... the Rh-associated glycoprotein
@en
The monovalent cation leak in ...... the Rh-associated glycoprotein
@nl
P2093
P1433
P1476
The monovalent cation leak in ...... the Rh-associated glycoprotein
@en
P2093
Gordon W. Stewart
Hélène Guizouarn
Jean Delaunay
Joanna F. Flatt
Joyce Poole
Lesley J. Bruce
Nicholas M. Burton
Nicole Gabillat
R. Leo Brady
P304
P356
10.1182/BLOOD-2008-07-171140
P407
P577
2009-02-05T00:00:00Z