(Q24618310)

English

An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells

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An isoform-specific mutation in the protein 4.1 gene results in hereditary elliptocytosis and complete deficiency of protein 4.1 in erythrocytes but not in nonerythroid cells (English)

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hereditary elliptocytosis

1 reference

based on heuristic

inferred from title

author name string

J G Conboy

1

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J A Chasis

2

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R Winardi

3

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G Tchernia

4

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Y W Kan

5

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N Mohandas

6

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language of work or name

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publication date

January 1993

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Journal of Clinical Investigation

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91

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77-82

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1

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Deficiency of skeletal membrane protein band 4.1 in homozygous hereditary elliptocytosis. Implications for erythrocyte membrane stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

Selective expression of an erythroid-specific isoform of protein 4.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

Multiple protein 4.1 isoforms produced by alternative splicing in human erythroid cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

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=329997

7 April 2017

Molecular cloning of human protein 4.2: a major component 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=329997

7 April 2017

Identification of alternatively spliced transcripts for human c-myb: molecular cloning and sequence analysis of human c-myb exon 9A sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

Alternative splicing of the human c-myb gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

Tissue- and development-specific alternative RNA splicing regulates expression of multiple isoforms of erythroid membrane protein 4.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

7 April 2017

Alternative primary structures in the transmembrane domain of the chicken erythroid anion transporter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

Hereditary disorders 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=329997

27 September 2017

Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. I. Biochemical identification of rearrangements in the spectrin/actin binding domain and functional characterizations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

An ubiquitous isoform of glycophorin C is produced by alternative splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

Heterogeneity of mRNA and protein products arising from the protein 4.1 gene in erythroid and nonerythroid tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

Alternative splicing of RNAs transcribed from the human c-myb gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

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=329997

27 September 2017

Cell type-specific integrin variants with alternative alpha chain cytoplasmic domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

Differential splicing in the extracellular region of fibroblast growth factor receptor 1 generates receptor variants with different ligand-binding specificities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

Authentic beta-globin mRNA sequences in homozygous betaO-thalassemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

27 September 2017

The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

30 May 2018

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

30 May 2018

Intricate combinatorial patterns of exon splicing generate multiple regulated troponin T isoforms from a single gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

30 May 2018

Hereditary elliptocytosis due to both qualitative and quantitative defects in membrane skeletal protein 4.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

30 May 2018

Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

30 May 2018

Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

30 May 2018

Molecular basis of hereditary elliptocytosis due to protein 4.1 deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=329997

28 July 2018

Distinct variants of erythrocyte protein 4.1 inherited in linkage with elliptocytosis and Rh type in three white families

1 reference

https://pubmed.ncbi.nlm.nih.gov/8423235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue-specific analogues of erythrocyte protein 4.1 retain functional domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/8423235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A molecular study of heterozygous protein 4.1 deficiency in hereditary elliptocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8423235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8423235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A shortened variant of red cell membrane protein 4.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8423235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A structural model of human erythrocyte protein 4.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8423235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The characterization of protein 4.1 Presles, a shortened variant of RBC membrane protein 4.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8423235

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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