A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis (Q35552176)

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scientific article published on March 1995

Language	Label	Description	Also known as
English	A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis	scientific article published on March 1995

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

author name string

P Jarolim

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

H L Rubin

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

V Brabec

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

J Palek

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

0 references

publication date

1 March 1995

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Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Clinical Investigation

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Europe PubMed Central

PubMed publication ID

8 August 2017

95

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

941-947

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Complex patterns of sequence variation and multiple 5' and 3' ends are found among transcripts of the erythroid ankyrin gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

Ankyrins: structure and function in normal cells and hereditary spherocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

From anemia to cerebellar dysfunction. A review of the ankyrin gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

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=441425

27 July 2018

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=441425

27 July 2018

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

1 reference

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27 July 2018

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=441425

27 July 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=441425

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

Quantitation of protein 3 content of circulating erythrocytes at the single-cell level

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

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=441425

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

Identification of the eosinyl-5-maleimide reaction site on the human erythrocyte anion-exchange protein: overlap with the reaction sites of other chemical probes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

cDNA sequence for human erythrocyte ankyrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

Ankyrins. Adaptors between diverse plasma membrane proteins and the cytoplasm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441425

27 July 2018

Syndeins: the spectrin-binding protein(s) 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=441425

27 July 2018

Cytoplasmic regulation of mRNA function: The importance of the 3′ untranslated region

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined ankyrin and spectrin deficiency in hereditary spherocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Large numbers of alternatively spliced isoforms of the regulatory region of human erythrocyte ankyrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883994

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/7883994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Regulatory domains of erythrocyte ankyrin

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883994

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/7883994

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/7883994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA analysis in the diagnosis of hemoglobin disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new test for the laboratory diagnosis of spherocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/7883994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI117802

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

0 references

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