Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.

Item
http://www.wikidata.org/entity/Q34979248
Loss-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 diseaseStructural model of the anion exchanger 1 (SLC4A1) and identification of transmembrane segments forming the transport site.Substitution of transmembrane domain Cys residues alters pH(o)-sensitive anion transport by AE2/SLC4A2 anion exchanger.Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.Pendrin function and regulation in Xenopus oocytesDisorders of erythrocyte volume homeostasis.Advances in understanding the pathogenesis of the red cell volume disorders.Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells.HCO(3)(-)-independent conductance with a mutant Na(+)/HCO(3)(-) cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis.Loss of kAE1 expression in collecting ducts of end-stage kidneys from a family with SLC4A1 G609R-associated distal renal tubular acidosisAsymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.Disorders of erythrocyte hydration.Hereditary stomatocytosis: An underdiagnosed condition.CryoEM structure of the human SLC4A4 sodium-coupled acid-base transporter NBCe1.The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
P2860

Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.

Item
http://www.wikidata.org/entity/Q34979248
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Functional characterization an ...... ed cation leak stomatocytosis.
@ast
Functional characterization an ...... ed cation leak stomatocytosis.
@en
Functional characterization an ...... ed cation leak stomatocytosis.
@nl
type
label
Functional characterization an ...... ed cation leak stomatocytosis.
@ast
Functional characterization an ...... ed cation leak stomatocytosis.
@en
Functional characterization an ...... ed cation leak stomatocytosis.
@nl
prefLabel
Functional characterization an ...... ed cation leak stomatocytosis.
@ast
Functional characterization an ...... ed cation leak stomatocytosis.
@en
Functional characterization an ...... ed cation leak stomatocytosis.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Functional characterization an ...... ed cation leak stomatocytosis.
@en
P2093
P2860
P304
P31
P356
10.1152/AJPCELL.00447.2010
P433
P478
P577
P5875
P698
P932