(Q57580018)

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Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression

scientific article published in Journal of Biological Chemistry

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scholarly article

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10 November 2019

Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression (English)

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10 November 2019

hereditary spherocytosis

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Daniela Bassères

3

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10 November 2019

author name string

Gallagher PG

1

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10 November 2019

Sabatino DE

2

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10 November 2019

Nilson DM

4

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10 November 2019

Wong C

5

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10 November 2019

Cline AP

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10 November 2019

Garrett LJ

7

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10 November 2019

Bodine DM

8

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publication date

29 August 2001

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10 November 2019

Journal of Biological Chemistry

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10 November 2019

276

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10 November 2019

45

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10 November 2019

41683-41689

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10 November 2019

Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Red blood cell membrane disorders

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

A minimal ankyrin promoter linked to a human gamma-globin gene demonstrates erythroid specific copy number dependent expression with minimal position or enhancer dependence in transgenic mice.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Functional requirements for phenotypic correction of murine beta-thalassemia: implications for human gene therapy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

A human beta-spectrin gene promoter directs high level expression in erythroid but not muscle or neural cells.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Substitution of the human beta-spectrin promoter for the human agamma-globin promoter prevents silencing of a linked human beta-globin gene in transgenic mice

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Partial deficiency of erythrocyte spectrin in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

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/10.1074%2FJBC.M105844200

21 January 2018

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

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/10.1074%2FJBC.M105844200

21 January 2018

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

The protein CTCF is required for the enhancer blocking activity of vertebrate insulators

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Clinical and molecular evaluation of non-dominant hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Deficient red-cell spectrin in severe, recessively inherited spherocytosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Ankyrin Bugey: a de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M105844200

21 January 2018

Position effect in human genetic disease

1 reference

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21 January 2018

Identifiers

10.1074/JBC.M105844200

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11527968%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11527968%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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