(Q37387088)

20 August 2017

Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia (English)

1 reference

20 August 2017

1 reference

R Kralovics

1

1 reference

20 August 2017

L Sokol

series ordinal

2

1 reference

20 August 2017

J T Prchal

series ordinal

3

1 reference

20 August 2017

language of work or name

English

0 references

publication date

1 July 1998

1 reference

Journal of Clinical Investigation

20 August 2017

1 reference

20 August 2017

102

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20 August 2017

1

1 reference

20 August 2017

124-129

1 reference

Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Erythropoietin receptor mRNA expression in human endothelial cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Specific recruitment of SH-PTP1 to the erythropoietin receptor causes inactivation of JAK2 and termination of proliferative signals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Localization of specific erythropoietin binding sites in defined areas of the mouse brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Functional erythropoietin receptor of the cells with neural characteristics. Comparison with receptor properties of erythroid cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

SH2 domains recognize specific phosphopeptide sequences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Phosphorylation of tyrosine 503 in the erythropoietin receptor (EpR) is essential for binding the P85 subunit of phosphatidylinositol (PI) 3-kinase and for EpR-associated PI 3-kinase activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Involvement of SH2-containing phosphotyrosine phosphatase Syp in erythropoietin receptor signal transduction pathways

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Erythropoietin has a mitogenic and positive chemotactic effect on endothelial cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

The cytoplasmic region of the erythropoietin receptor contains nonoverlapping positive and negative growth-regulatory domains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Radioimmunoassay of erythropoietin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Neocytolysis: physiological down-regulator of red-cell mass

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Familial and congenital polycythemia in three unrelated families

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Mutations at the murine motheaten locus are within the hematopoietic cell protein-tyrosine phosphatase (Hcph) gene.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Two microsatellite repeat polymorphisms in the EPO gene.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Familial erythrocytosis genetically linked to erythropoietin receptor gene

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=509073

Human marrow cells capable of erythropoietic differentiation in vitro: definition of three erythroid colony responses

3 December 2018

1 reference

12 December 2020

Erythrocytosis due to a mutation in the erythropoietin receptor gene

1 reference

12 December 2020

Pure erythrocytosis classified according to erythropoietin titers

1 reference

12 December 2020

Autosomal dominant polycythemia

1 reference

12 December 2020

Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin

1 reference

12 December 2020

Primary familial and congenital polycythaemia

1 reference

12 December 2020

Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia

1 reference

12 December 2020

Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias

1 reference

12 December 2020

Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor

1 reference

12 December 2020

The erythropoietin receptor gene is not linked with the polycythemia phenotype in a family with autosomal dominant primary polycythemia

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI2886

1 reference

20 August 2017

1 reference

20 August 2017

1 reference