(Q24618688)

English

Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association

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scholarly article

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Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association (English)

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author name string

W T Tse

1

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M C Lecomte

2

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F F Costa

3

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M Garbarz

4

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C Feo

5

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P Boivin

6

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D Dhermy

7

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B G Forget

8

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language of work or name

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publication date

September 1990

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Journal of Clinical Investigation

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86

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3

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909-16

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Full-length sequence of the cDNA for human erythroid beta-spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

High resolution two-dimensional electrophoresis of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Sequence from picomole quantities of proteins electroblotted onto polyvinylidene difluoride membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Erythrocyte spectrin is comprised of many homologous triple helical segments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Molecular cloning of the cDNA for human erythrocyte beta-spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

A Congenital Haemolytic Anaemia with Thermal Sensitivity of the Erythrocyte Membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

7 April 2017

Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Defective spectrin dimer-dimer association with hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Identification of functional domains of human erythrocyte spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Common structural polymorphisms in human erythrocyte spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Cloning of a portion of the chromosomal gene for human erythrocyte alpha-spectrin by using a synthetic gene fragment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Spectrin Tunis (alpha I/78): a new alpha I variant that causes asymptomatic hereditary elliptocytosis in the heterozygous state

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Three RFLPs are detected by an alpha spectrin genomic clone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

Structural basis for the high activation energy of spectrin self-association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

27 September 2017

A new abnormal variant of spectrin in black patients with hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

30 May 2018

Hereditary poikilocytic anemia associated with the co-inheritance of two alpha spectrin abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

30 May 2018

Self-association of human spectrin. A thermodynamic and kinetic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

30 May 2018

[A new technic for the study of the physiology of erythrocytes: measurement of their deformability as a function of osmolarity. Results obtained by an automatized Ektacytometer in normal blood and in various hemolytic anemias]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

30 May 2018

Pathologic and nonpathologic variants of the spectrin molecule in two black families with hereditary elliptocytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

30 May 2018

Sp alpha I/65: a new variant of the alpha subunit of spectrin in hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

28 November 2018

A new variant of the alpha subunit of spectrin in hereditary elliptocytosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296810

28 November 2018

Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary elliptocytosis with a spectrin molecular defect in a white patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular defect of spectrin in the family of a child with congenital hemolytic poikilocytic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of the self-association of human red cell spectrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Research on genetic abnormality in the hemolytic form of hereditary elliptocytosis with homozygosity for the spectrin alpha I/74 variant]

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A technique to detect reduced mechanical stability of red cell membranes: relevance to elliptocytic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A structural model of human erythrocyte spectrin. Alignment of chemical and functional domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective spectrin dimer-dimer association in a family with transfusion dependent homozygous hereditary elliptocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1975598

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114792

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release_hlfw7lirn5fetleqchweswjtt4

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https://api.fatcat.wiki/v0/release/hlfw7lirn5fetleqchweswjtt4

24 November 2022

based on heuristic

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