Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
about
Red cell membrane: past, present, and futureAbnormalities of the erythrocyte membraneStructural basis for spectrin recognition by ankyrinMonovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteinsBiomechanical properties of red blood cells in health and disease towards microfluidics.Identification of biologically relevant enhancers in human erythroid cells.Comparative proteomics reveals deficiency of SLC9A1 (sodium/hydrogen exchanger NHE1) in β-adducin null red cells.Segmental axonopathy of Merino sheep in New Zealand.Diagnostic approaches for inherited hemolytic anemia in the genetic eraErythrocyte membrane model with explicit description of the lipid bilayer and the spectrin networkInvestigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (-) cells (mutations Chartres 1 and 2).Comprehensive identification of erythrocyte membrane protein deficiency by 2D gel electrophoresis based proteomic analysis in hereditary elliptocytosis and spherocytosis.Mutation of a barrier insulator in the human ankyrin-1 gene is associated with hereditary spherocytosisLearning about genomics and disease from the anucleate human red blood cell.Shape and Biomechanical Characteristics of Human Red Blood Cells in Health and DiseaseDisorders of red cell membrane.Hereditary spherocytosis: evaluation of 68 children.Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient.Association of chromosome damage detected as micronuclei with hematological diseases and micronutrient status.Cytoskeletal dynamics of human erythrocyte.Modelling and rapid simulation of multiple red blood cell light scatteringA complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosisMutation of conserved histidines alters tertiary structure and nanomechanics of consensus ankyrin repeats.A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis.Clinical course of 63 children with hereditary spherocytosis: a retrospective study.Involvement of Band3 in the efflux of sphingosine 1-phosphate from erythrocytesA novel mutation in the β-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site.Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register.An insulator with barrier-element activity promotes alpha-spectrin gene expression in erythroid cells.Topological Structures and Membrane Nanostructures of Erythrocytes after Splenectomy in Hereditary Spherocytosis Patients via Atomic Force Microscopy.Hereditary red cell membrane disorders and laboratory diagnostic testing.Recent advances in microfluidic techniques for single-cell biophysical characterization.A genetic features and gene interaction study for identifying the genes that cause hereditary spherocytosis.Pulmonary endarterectomy is effective and safe in patients with haemoglobinopathies and abnormal red blood cells: the Papworth experience.Evaluation of red cell membrane cytoskeletal disorders using a flow cytometric method in South iran.Dystrophin and Spectrin, Two Highly Dissimilar Sisters of the Same Family.Red cell membrane disorders.β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.Anesthetic management of a patient with hereditary spherocytosis for laparoscopic cholecystectomy and splenectomy.
P2860
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P2860
Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer.
description
2004 nî lūn-bûn
@nan
2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@ast
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@en
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@nl
type
label
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@ast
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@en
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@nl
prefLabel
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@ast
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@en
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@nl
P1476
Hereditary spherocytosis--defe ...... skeleton to the lipid bilayer.
@en
P2093
Samuel E Lux
Stefan Eber
P304
P356
10.1053/J.SEMINHEMATOL.2004.01.002
P577
2004-04-01T00:00:00Z