(Q33410783)

26 July 2017

title

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects (English)

1 reference

26 July 2017

Jacqueline Stockley

1

0 references

Michael Simpson

Michael A Simpson

7

0 references

Marie Lordkipanidzé

Marie Lordkipanidzé

5

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Neil V Morgan

Neil V Morgan

2

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Steve P. Watson

Steve P Watson

16

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author name string

Danai Bem

3

1 reference

26 July 2017

Gillian C Lowe

4

1 reference

26 July 2017

Ban Dawood

6

1 reference

26 July 2017

Kirsty Macfarlane

8

1 reference

26 July 2017

Kevin Horner

9

1 reference

26 July 2017

Vincenzo C Leo

10

1 reference

26 July 2017

Katherine Talks

11

1 reference

26 July 2017

Jayashree Motwani

12

1 reference

26 July 2017

Jonathan T Wilde

13

1 reference

26 July 2017

Peter W Collins

14

1 reference

26 July 2017

Michael Makris

15

1 reference

26 July 2017

Martina E Daly

17

1 reference

26 July 2017

UK Genotyping and Phenotyping of Platelets Study Group

18

1 reference

26 July 2017

language of work or name

English

0 references

publication date

7 October 2013

1 reference

26 July 2017

1 reference

26 July 2017

volume

122

1 reference

26 July 2017

issue

25

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26 July 2017

page(s)

4090-4093

1 reference

Genotyping and phenotyping of platelet function disorders

26 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Differentiation-dependent interactions between RUNX-1 and FLI-1 during megakaryocyte development.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Identification of nuclear import and export signals within Fli-1: roles of the nuclear import signals in Fli-1-dependent activation of megakaryocyte-specific promoters

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Fli-1 is required for murine vascular and megakaryocytic development and is hemizygously deleted in patients with 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=3862284

Regulation of the megakaryocytic glycoprotein IX promoter by the oncogenic Ets transcription factor Fli-1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Identification of Essential GATA and Ets Binding Motifs within the Promoter of the Platelet Glycoprotein Ibα 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=3862284

The ERGB/Fli-1 gene: isolation and characterization of a new member of the family of human ETS transcription factors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3862284

Characterization of human glycoprotein VI gene 5' regulatory and promoter regions

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24100448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inherited platelet disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24100448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2013-06-506873

1 reference

26 July 2017

1 reference

26 July 2017

1 reference