Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. (Q33421439)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807284 AND SRC:MED&resulttype=core&format=json

3 March 2020

title

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia (English)

1 reference

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3 March 2020

1 reference

1 reference

2

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3 March 2020

Alisa B Lee-Sherick

3

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3 March 2020

Patrizia Noris

5

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3 March 2020

Anna Savoia

6

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3 March 2020

Alessandro Pecci

11

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Daniela De Rocco

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3 March 2020

Lily Lu

16

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3 March 2020

Fred G Pluthero

23

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3 March 2020

Andrew Weyrich

25

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3 March 2020

author name string

Leila Noetzli

1

1 reference

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3 March 2020

Michael Callaghan

4

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3 March 2020

Madhvi Rajpurkar

7

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3 March 2020

Kenneth Jones

8

1 reference

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3 March 2020

Katherine Gowan

9

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3 March 2020

Carlo Balduini

10

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3 March 2020

Chiara Gnan

12

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3 March 2020

Michael Doubek

14

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3 March 2020

Ling Li

15

1 reference

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3 March 2020

Richard Leung

17

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3 March 2020

Carolina Landolt-Marticorena

18

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3 March 2020

Paula Heller

20

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3 March 2020

Arthur Gutierrez-Hartmann

21

1 reference

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3 March 2020

Liang Xiayuan

22

1 reference

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3 March 2020

Jesse W Rowley

24

1 reference

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3 March 2020

Walter H A Kahr

26

1 reference

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3 March 2020

Christopher C Porter

27

1 reference

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3 March 2020

Jorge Di Paola

28

1 reference

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3 March 2020

Stephen Hunger

19

1 reference

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3 March 2020

language of work or name

English

0 references

publication date

25 March 2015

1 reference

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3 March 2020

1 reference

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3 March 2020

volume

47

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3 March 2020

issue

5

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3 March 2020

page(s)

535-538

1 reference

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Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

3 March 2020

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1 reference

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ETV6 (TEL1) regulates embryonic hematopoiesis in zebrafish

28 July 2018

1 reference

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Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice

28 July 2018

1 reference

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Induction of a hemogenic program in mouse fibroblasts

28 July 2018

1 reference

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The incredible journey: From megakaryocyte development to platelet formation.

28 July 2018

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The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis

28 July 2018

1 reference

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ETV6 mutations in early immature human T cell leukemias

28 July 2018

1 reference

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28 July 2018

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Clinical effect of point mutations in myelodysplastic syndromes

28 July 2018

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Genome-wide RNA-seq analysis of human and mouse platelet transcriptomes.

28 July 2018

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28 July 2018

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dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

28 July 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

28 July 2018

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DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association

28 July 2018

1 reference

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Fast and SNP-tolerant detection of complex variants and splicing in short reads

28 July 2018

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Downregulation of vertebrate Tel (ETV6) and Drosophila Yan is facilitated by an evolutionarily conserved mechanism of F-box-mediated ubiquitination

28 July 2018

1 reference

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Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles

28 July 2018

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Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival

28 July 2018

1 reference

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A direct binding site for Grb2 contributes to transformation and leukemogenesis by the Tel-Abl (ETV6-Abl) tyrosine kinase

28 July 2018

1 reference

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PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13).

28 July 2018

1 reference

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TEL, a putative tumor suppressor, modulates cell growth and cell morphology of ras-transformed cells while repressing the transcription of stromelysin-1.

28 July 2018

1 reference

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Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

28 July 2018

1 reference

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TEL is a sequence-specific transcriptional repressor

28 July 2018

1 reference

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Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

28 July 2018

1 reference

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The TEL/ETV6 gene is required specifically for hematopoiesis in the bone marrow

28 July 2018

1 reference

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The ets family member Tel binds to the Fli-1 oncoprotein and inhibits its transcriptional activity

28 July 2018

1 reference

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Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL

28 July 2018

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Molecular mechanisms of ETS transcription factor-mediated tumorigenesis

28 July 2018

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

31 October 2018

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Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia

31 October 2018

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

31 October 2018

1 reference

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Induction of megakaryocytes to synthesize and store a releasable pool of human factor VIII.

31 October 2018

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Deletion of the short arm of chromosome 12 is a secondary event in acute lymphoblastic leukemia with t(12;21)

31 October 2018

1 reference

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Expression profile of wild-type ETV6 in childhood acute leukaemia

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25807284

12 December 2020

inferred from PubMed ID database lookup

Abnormal RNA processing due to the exon mutation of βE-globin gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25807284

12 December 2020

inferred from PubMed ID database lookup

Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25807284

12 December 2020

inferred from PubMed ID database lookup

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.3253

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.3253

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807284 AND SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25807284 AND SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

25807284

1 reference