(Q35923578)

11 August 2017

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title

Hereditary haemolytic anaemias: unexpected sequelae of mutations in the genes for erythroid membrane skeletal proteins (English)

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11 August 2017

Connie S Birkenmeier

1

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11 August 2017

Jane E Barker

series ordinal

2

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11 August 2017

publication date

1 November 2004

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11 August 2017

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11 August 2017

volume

204

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11 August 2017

issue

4

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11 August 2017

page(s)

450-459

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Hereditary elliptocytosis, spherocytosis and related disorders: consequences of a deficiency or a mutation of membrane skeletal proteins

11 August 2017

cites work

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Hereditary disorders of the red cell membrane skeleton

21 January 2018

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Red blood cell membrane disorders

21 January 2018

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Hereditary elliptocytosis: spectrin and protein 4.1R.

21 January 2018

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The spectrin skeleton: from red cells to brain

21 January 2018

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The spectrin-based membrane skeleton and micron-scale organization of the plasma membrane

21 January 2018

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Regulation of erythrocyte membrane protein gene expression

21 January 2018

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Patterns of spectrin transcripts in erythroid and non-erythroid cells

21 January 2018

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The exon-intron organization of the human erythroid beta-spectrin gene

21 January 2018

1 reference

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene

21 January 2018

1 reference

Mild spherocytosis and altered red cell ion transport in protein 4. 2-null mice

21 January 2018

1 reference

Adducin: a Physical Model with Implications for Function in Assembly of Spectrin-Actin Complexes

21 January 2018

1 reference

Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice

21 January 2018

1 reference

Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis

21 January 2018

1 reference

Partial characterization of the cytoplasmic domain of human kidney band 3.

21 January 2018

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Band 3 Walton, a C-terminal deletion associated with distal renal tubular acidosis, is expressed in the red cell membrane but retained internally in kidney cells.

21 January 2018

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alpha-cardiac actin (ACTC) binds to the band 3 (AE1) cardiac isoform

21 January 2018

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Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency.

21 January 2018

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Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton

21 January 2018

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Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton

21 January 2018

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A nonerythroid isoform of protein 4.1R interacts with the nuclear mitotic apparatus (NuMA) protein

21 January 2018

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Molecular basis of red cell membrane disorders

21 January 2018

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Neurobehavioral deficits in mice lacking the erythrocyte membrane cytoskeletal protein 4.1.

21 January 2018

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Alternative 5' exons and differential splicing regulate expression of protein 4.1R isoforms with distinct N-termini.

21 January 2018

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Ankyrins and cellular targeting of diverse membrane proteins to physiological sites

21 January 2018

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Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis

21 January 2018

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Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing

21 January 2018

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Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice

21 January 2018

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Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis

21 January 2018

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Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8

21 January 2018

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An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor

21 January 2018

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An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene

21 January 2018

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Small, membrane-bound, alternatively spliced forms of ankyrin 1 associated with the sarcoplasmic reticulum of mammalian skeletal muscle

21 January 2018

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Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles

21 January 2018

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Obscurin is a ligand for small ankyrin 1 in skeletal muscle

21 January 2018

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Normoblastosis, a murine model for ankyrin-deficient hemolytic anemia, is caused by a hypomorphic mutation in the erythroid ankyrin gene Ank1.

21 January 2018

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Interaction of sickle cell hemoglobin with erythrocyte membranes

21 January 2018

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Irreversible deformation of the spectrin-actin lattice in irreversibly sickled cells

21 January 2018

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Hemichrome binding to band 3: nucleation of Heinz bodies on the erythrocyte membrane

21 January 2018

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Heinz bodies induce clustering of band 3, glycophorin, and ankyrin in sickle cell erythrocytes

21 January 2018

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Molecular defect in the sickle erythrocyte skeleton. Abnormal spectrin binding to sickle inside-our vesicles

21 January 2018

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Membrane protein lesions in erythrocytes with Heinz bodies

21 January 2018

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Deformability of oxygenated irreversibly sickled cells

21 January 2018

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Deformability characteristics of sickle cells by microelastimetry

21 January 2018

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Prediction of adverse outcomes in children with sickle cell disease

21 January 2018

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Mortality in sickle cell disease. Life expectancy and risk factors for early death.

21 January 2018

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The "pocked" erythrocyte. Red-cell surface alterations in reticuloendothelial immaturity of the neonate.

21 January 2018

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Hereditary spherocytosis. Recent experience and current concepts of pathophysiology.

21 January 2018

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Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency

21 January 2018

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The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin

21 January 2018

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Levels of delta-aminolevulinate dehydratase, uroporphyrinogen-I synthase, and protoporphyrin IX in erythrocytes from anemic mutant mice

21 January 2018

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Long-term administration of massive doses of Sn-protoporphyrin in anemic mutant mice (sphha/sphha)

21 January 2018

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Studies on the pathogenesis of pigment gallstones in hemolytic anemia: description and characteristics of a mouse model

21 January 2018

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Monoconjugated bilirubin is a major component of hemolysis-induced gallstones in mice.

21 January 2018

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Hereditary spherocytosis, thrombocytosis, and chronic pulmonary emboli: a case report and review of the literature

21 January 2018

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Moyamoya disease in a patient with hereditary spherocytosis

21 January 2018

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Moyamoya syndrome with spherocytosis: effect of splenectomy on strokes

21 January 2018

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Thrombosis in heritable hemolytic disorders

21 January 2018

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Silent cerebral infarcts in sickle cell anemia: a risk factor analysis. The Cooperative Study of Sickle Cell Disease

21 January 2018

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Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis.

21 January 2018

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Leukocyte colony-forming cells in the peripheral blood of children with hereditary spherocytosis

21 January 2018

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The complete blood count and reticulocyte count--are they necessary in the evaluation of acute vasoocclusive sickle-cell crisis?

21 January 2018

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Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy

21 January 2018

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A protein immunologically related to erythrocyte band 4.1 is found on stress fibres of non-erythroid cells

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PATH.1636

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11 August 2017

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