Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.
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Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) geneMolecular physiology and genetics of Na+-independent SLC4 anion exchangersThe lamprey (Lampetra fluviatilis) erythrocyte; morphology, ultrastructure, major plasma membrane proteins and phospholipids, and cytoskeletal organization.Modulation of erythrocyte band 4.1 binding by volume expansion.Potential large animal models for gene therapy of human genetic diseases of immune and blood cell systemsThe SV40 late protein VP4 is a viroporin that forms pores to disrupt membranes for viral release.The SLC4 family of bicarbonate (HCO₃⁻) transporters.Mapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndromeThe cytoskeletal binding domain of band 3 is required for multiprotein complex formation and retention during erythropoiesis.Band 3 missense mutations and stomatocytosis: insight into the molecular mechanism responsible for monovalent cation leak.Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.Molecular physiology of SLC4 anion exchangers.SLC4 base (HCO3 -, CO3 2-) transporters: classification, function, structure, genetic diseases, and knockout models.A critical analysis of disease-associated DNA polymorphisms in the genes of cattle, goat, sheep, and pig.Chicken erythroid AE1 anion exchangers associate with the cytoskeleton during recycling to the Golgi.Inherited renal acidoses.A new class of endoplasmic reticulum export signal PhiXPhiXPhi for transmembrane proteins and its selective interaction with Sec24CMiltenberger blood group antigen type III (Mi.III) enhances the expression of band 3.Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.The structure and function of band 3 (AE1): recent developments (review).Critical band 3 multiprotein complex interactions establish early during human erythropoiesis.Molecular basis of bovine red-cell protein 4.2 polymorphism in Japanese black cattle.Analysis of integral membrane protein contributions to the deformability and stability of the human erythrocyte membrane.Induced synthesis of albumin-like protein in damaged rat reticulocytes.Red cell morphology and malaria anaemia in children with Southeast-Asian ovalocytosis band 3 in Papua New Guinea.Molecular mechanism for the red blood cell senescence clock.Hereditary Red Cell Membrane Disorders in Japan: Their Genotypic and Phenotypic Features in 1014 Cases Studied.Inherited defects of sodium-dependent glutamate transport mediated by glutamate/aspartate transporter in canine red cells due to a decreased level of transporter protein expression.Short sequence repeat polymorphism in the mouse slc4al gene encoding the AE1 Cl-/HCO3-exchanger.Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.Mouse Models of SLC4-linked Disorders of HCO3- Transporter Dysfunction.Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.Cardiac hypertrophy in anion exchanger 1-null mutant mice with severe hemolytic anemia.A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis.Exploring the Potential Roles of Band 3 and Aquaporin-1 in Blood CO2 Transport-Inspired by Comparative Studies of Glycophorin B-A-B Hybrid Protein GP.Mur.
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P2860
Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on April 1996
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Defective anion transport and ...... le due to a nonsense mutation.
@en
Defective anion transport and ...... le due to a nonsense mutation.
@nl
type
label
Defective anion transport and ...... le due to a nonsense mutation.
@en
Defective anion transport and ...... le due to a nonsense mutation.
@nl
prefLabel
Defective anion transport and ...... le due to a nonsense mutation.
@en
Defective anion transport and ...... le due to a nonsense mutation.
@nl
P2093
P2860
P356
P1476
Defective anion transport and ...... le due to a nonsense mutation.
@en
P2093
Takakuwa Y
P2860
P304
P356
10.1172/JCI118610
P407
P577
1996-04-01T00:00:00Z