(Q37350275)

English

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis

scientific article published on January 1996

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1 reference

based on heuristic

inferred from title

author name string

Jenkins PB

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Abou-Alfa GK

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Dhermy D

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Bursaux E

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Féo C

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Scarpa AL

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Lux SE

7

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Garbarz M

8

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Forget BG

9

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Gallagher PG

10

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

0 references

publication date

1 January 1996

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

97

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

373-380

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Molecular and cellular biology of the erythrocyte anion exchanger (AE1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Premature translational termination triggers mRNA decapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Osmotic gradient ektacytometry: comprehensive characterization of red cell volume and surface maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

beta zero thalassemia in Sardinia is caused by a nonsense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 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=507027

6 September 2017

Nonsense mutations in the human beta-globin gene affect mRNA metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Nonsense mutations in the dihydrofolate reductase gene affect RNA processing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 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=507027

6 September 2017

Structural and functional characterization of band 3 from Southeast Asian ovalocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 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=507027

6 September 2017

beta 0 thalassemia, a nonsense mutation in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

6 September 2017

Quantitation of RNA using the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

14 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=507027

14 September 2017

Two RFLPs in the human protein 4.1 gene (EL1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

14 September 2017

Human gene mutations affecting RNA processing and translation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

28 September 2017

Clinical expression and laboratory detection of red blood cell membrane protein mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

28 September 2017

Individual stage selector element mutations lead to reciprocal changes in beta- vs. epsilon-globin gene transcription: genetic confirmation of promoter competition during globin gene switching

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

28 September 2017

The structure of the human red blood cell anion exchanger (EPB3, AE1, band 3) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

26 June 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=507027

26 June 2018

Partial deficiency of erythrocyte spectrin in hereditary spherocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

26 June 2018

A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

26 June 2018

Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

26 June 2018

Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507027

2 September 2018

Nonsense mutations and diminished mRNA levels

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrin alpha IIa variant in dominant and non-dominant spherocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsense codon mutations in the terminal exon of the beta-globin gene are not associated with a reduction in beta-mRNA accumulation: a mechanism for the phenotype of dominant beta-thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The stop mutation R553X in the CFTR gene results in exon skipping

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrin St Louis and the alpha LELY allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of a PstI polymorphism of the human erythrocyte band 3 gene (EPB3)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Location and PCR-based detection of three polymorphisms of the human erythrocyte beta-spectrin gene (SPTB)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intranuclear defect in beta-globin mRNA accumulation due to a premature translation termination codon

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta O-39 thalassemia gene: a premature termination codon causes beta-mRNA deficiency without affecting cytoplasmic beta-mRNA stability

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic phosphates modulate anion self-exchange across the human erythrocyte membrane

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

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/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

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/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: evidence implicating a primary defect of ankyrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphorylation sites in human erythrocyte band 3 protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human erythrocyte band 3 polymorphism (band 3 Memphis): characterization of the structural modification (Lys 56----Glu) by protein chemistry methods

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary spherocytosis characterized by increased spectrin/band 3 ratio

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymerase chain reaction analysis of an NcoI polymorphism of the human erythrocyte ankyrin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8567957

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI118425

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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