(Q33410668)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia (English)

1 reference

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26 February 2020

7

1 reference

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26 February 2020

Rodrigo T. Calado

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Irfan Saadi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Majed J Dasouki

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Syed K Rafi

2

1 reference

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26 February 2020

Adam J Olm-Shipman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Nathan R Wilson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Sunil Abhyankar

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Brigitte Ganter

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Jianwen Fang

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

language of work or name

English

0 references

publication date

1 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

122

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

issue

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

3440-3449

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

Inherited thrombocytopenias: the evolving spectrum.

26 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Genetics of familial forms of thrombocytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Eltrombopag and improved hematopoiesis in refractory aplastic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Human telomere disease due to disruption of the CCAAT box of the TERC promoter

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Romiplostim administration shows reduced megakaryocyte response-capacity and increased myelofibrosis in a mouse model of MYH9-RD.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Eltrombopag: an oral thrombopoietin receptor agonist for the treatment of idiopathic thrombocytopenic purpura

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Short telomeres result in chromosomal instability in hematopoietic cells and precede malignant evolution in human aplastic anemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Telomeres and marrow failure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Determinants of platelet number and regulation of thrombopoiesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Molecular mechanisms of thrombopoietin signaling

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Structure of apolipoprotein A-I in spherical high density lipoproteins of different sizes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

A three-dimensional homology model of lipid-free apolipoprotein A-IV using cross-linking and mass spectrometry.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Eltrombopag for the treatment of chronic idiopathic thrombocytopenic purpura

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Current concepts in the pathophysiology and treatment of aplastic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Culture of megakaryocytic cell lines: uses and limitations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

A thrombopoietin receptor mutant deficient in Jak-STAT activation mediates proliferation but not differentiation in UT-7 cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Thrombopoietin expression in normal and hypobaric hypoxia-induced thrombocytopenic rats.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Human thrombopoietin structure-function relationships: identification of functionally important residues

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Hematopoietic deficiencies in c-mpl and TPO knockout mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Identification of functionally important residues of human thrombopoietin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Normal platelets and megakaryocytes are produced in vivo in the absence of thrombopoietin.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Localization and regulation of thrombopoietin mRNa expression in human kidney, liver, bone marrow, and spleen using in situ hybridization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Establishment and characterization of the thrombopoietin-dependent megakaryocytic cell line, UT-7/TPO.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietic receptor c-Mpl

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

cMpl ligand is a humoral regulator of megakaryocytopoiesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

The purification of megapoietin: a physiological regulator of megakaryocyte growth and platelet production

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Molecular cloning and chromosomal localization of the human thrombopoietin gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietin.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Thrombopoietin gene expression in the developing human central nervous system

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Mutational analysis of thrombopoietin for identification of receptor and neutralizing antibody sites.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Thrombopoietin and its alternatively spliced form are expressed in human amygdala and hippocampus.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Cloning and expression of murine thrombopoietin cDNA and stimulation of platelet production in vivo

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3829117

Low levels of erythroid and myeloid progenitors in thrombopoietin-and c-mpl-deficient mice

31 October 2018

1 reference

12 December 2020

Expression of the thrombopoietin gene in human fetal and neonatal tissues

1 reference

12 December 2020

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia

1 reference

12 December 2020

Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene

1 reference

12 December 2020

The role of platelet alpha-granular proteins in the regulation of thrombopoietin messenger RNA expression in human bone marrow stromal cells

1 reference

12 December 2020

A novel splice donor mutation in the thrombopoietin gene leads to exon 2 skipping in a Filipino family with hereditary thrombocythemia

1 reference

12 December 2020

10.1182/BLOOD-2012-12-473538

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

24085763

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24085763%20AND%20SRC:MED&resulttype=core&format=json