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English	No label defined	scientific article

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scholarly article

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A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin (English)

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hereditary elliptocytosis

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based on heuristic

inferred from title

author name string

P G Gallagher

1

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W T Tse

2

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T Coetzer

3

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M C Lecomte

4

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M Garbarz

5

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H S Zarkowsky

6

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A Baruchel

7

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S K Ballas

8

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D Dhermy

9

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J Palek

10

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language of work or name

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publication date

March 1992

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Journal of Clinical Investigation

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89

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3

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892-8

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Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

24 March 2017

Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

24 March 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

24 March 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=442935

24 March 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=442935

24 March 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=442935

24 March 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=442935

24 March 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=442935

24 March 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=442935

24 March 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=442935

24 March 2017

Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

24 March 2017

Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

24 March 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=442935

24 March 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=442935

24 March 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=442935

7 April 2017

Spectrin beta-chain variant associated with hereditary elliptocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

27 September 2017

Identification of proteolytically resistant 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=442935

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=442935

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=442935

27 September 2017

Stabilizing infrastructure of cell membranes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

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=442935

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=442935

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=442935

27 September 2017

Interactions of spectrin in hereditary elliptocytes containing truncated spectrin beta-chains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

27 September 2017

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

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=442935

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=442935

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=442935

27 September 2017

The red cell skeleton and its genetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

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=442935

27 September 2017

Clinical and molecular aspects of disorders of the erythrocyte membrane skeleton.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

27 September 2017

Spectrin-based membrane skeleton: a multipotential adaptor between plasma membrane and cytoplasm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

27 September 2017

Genetics of the red cell membrane skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

27 September 2017

The spectrin skeleton: from red cells to brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442935

27 September 2017

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=442935

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=442935

30 May 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1541680

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal spectrin in hereditary elliptocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1541680

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1541680

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/1541680

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children

1 reference

https://pubmed.ncbi.nlm.nih.gov/1541680

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/1541680

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/1541680

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/1541680

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of elliptocytosis associated with a truncated spectrin chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1541680

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/1541680

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/1541680

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1541680

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/1541680

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/1541680

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI115669

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