Hereditary spherocytosis: a review of the clinical and molecular aspects of the disease (Q41227729)

28 September 2017

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title

Hereditary spherocytosis: a review of the clinical and molecular aspects of the disease (English)

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28 September 2017

hereditary spherocytosis

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Hassoun H

1

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PubMed ID

8932827

28 September 2017

Palek J

series ordinal

2

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28 September 2017

1 September 1996

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28 September 2017

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28 September 2017

10

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28 September 2017

3

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28 September 2017

129-147

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

28 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

The molecular structure of human erythrocyte spectrin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Oligomeric states of spectrin in normal erythrocyte membranes: biochemical and electron microscopic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Erythrocyte spectrin is comprised of many homologous triple helical segments

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Crystal structure of the repetitive segments of spectrin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Self-assembly of spectrin oligomers in vitro: a basis for a dynamic cytoskeleton

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Spectrin-actin associations studied by electron microscopy of shadowed preparations

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Ankyrin binds to the 15th repetitive unit of erythroid and nonerythroid beta-spectrin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

The ANK repeats of erythrocyte ankyrin form two distinct but cooperative binding sites for the erythrocyte anion exchanger

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Identification of a binding motif for ankyrin on the alpha-subunit of Na+,K(+)-ATPase

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA sequence

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Partial characterization of the copolymerization reaction of erythrocyte membrane band 3 with hemichromes

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Rotational diffusion of the erythrocyte integral membrane protein band 3: effect of hemichrome binding

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

The membrane attachment protein for spectrin is associated with band 3 in human erythrocyte membranes

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Structure and function of the red blood cell anion transport protein

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Red cell membrane protein band 4.2: phenotypic, genetic and electron microscopic aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

High Prevalence of Increased Osmotic Fragility of Red Blood Cells among Norwegian Blood Donors

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Prevalence of increased osmotic fragility of erythrocytes in German blood donors: screening using a modified glycerol lysis test

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Haemolytic Anaemia in Infectious Mononucleosis Due to Inapparent Congenital Spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Pregnancy and hereditary spherocytosis. Report of 8 patients and a review

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Haemolysis in athletes due to hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Hereditary spherocytosis in the elderly

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Diagnosis of hereditary spherocytosis in newborn infants

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Deficient red-cell spectrin in severe, recessively inherited spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Ascertaining genetic carriers of hereditary spherocytosis by statistical analysis of multiple laboratory tests

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Hypertonic cryohemolysis: a diagnostic test for hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Red cell life span after splenectomy in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Hereditary spherocytosis. Recent experience and current concepts of pathophysiology.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Estimating the risk for sepsis after splenectomy in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Twenty years of splenectomy for hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Accessory spleen in recurrent chronic immune thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Partial splenic embolization in children with hypersplenism

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Tissue-specific expression of distinct spectrin and ankyrin transcripts in erythroid and nonerythroid cells

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Congenital spherocytosis, B19 parvovirus infection and inherited interstitial deletion of the short arm of chromosome 8

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Localization of the spherocytosis gene to chromosome segment 8p11.22----8p21

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

beta-Spectrin limits alpha-spectrin assembly on membranes following synthesis in a chicken erythroid cell lysate.

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

A Genetic Defect in the Binding of Protein 4.1 to Spectrin in a Kindred with Hereditary Spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Partial ankyrin and spectrin deficiency in severe, atypical hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Linkage of dominant hereditary spherocytosis to the gene for the erythrocyte membrane-skeleton protein ankyrin

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

A novel mutation in the erythrocyte protein 4.2 gene of Japanese patients with hereditary spherocytosis (protein 4.2 Fukuoka)

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Spectrin deficient inherited hemolytic anemias in the mouse: Characterization by spectrin synthesis and mRNA activity in reticulocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Erythrocyte lipid loss in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

The selective and conjoint loss of red cell lipids

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2Notame)

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

Band 4.2 Shiga: 317 CGC-->TGC in compound heterozygotes with 142 GCT-->ACT results in band 4.2 deficiency and microspherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0268-960X%2896%2990021-1

7 January 2021

10.1016/S0268-960X(96)90021-1

Identifiers

DOI

1 reference

release_s4wcjo2tynfn3dwicwvjv66zeu

28 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/s4wcjo2tynfn3dwicwvjv66zeu

24 November 2022

mapped directly with Wikidata item

PubMed ID

8932827

1 reference

PubMed ID

8932827