Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature (Q26828941)

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15 March 2020

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Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature (English)

2 references

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15 March 2020

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myelodysplastic syndrome

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corrigendum / erratum

Erratum: Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature

1 reference

10.1186/S13045-015-0228-Z

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1186/S13045-015-0228-Z

author

Marshall Horwitz

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1 reference

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15 March 2020

author name string

Juehua Gao

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2 references

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15 March 2020

Ryan D Gentzler

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2 references

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15 March 2020

Andrew E Timms

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2 references

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15 March 2020

Olga Frankfurt

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2 references

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15 March 2020

Jessica K Altman

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2 references

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15 March 2020

LoAnn C Peterson

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15 March 2020

language of work or name

1 reference

22 April 2014

8 references

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11 December 2019

22 December 2019

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Journal of Hematology & Oncology

15 March 2020

published in

8 references

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20 June 2019

30 June 2019

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11 December 2019

22 December 2019

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15 March 2020

volume

7

2 references

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15 March 2020

page(s)

36

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Creative Commons Attribution 4.0 International

15 March 2020

copyright license

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3 April 2019

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on focus list of Wikimedia project

22 December 2019

copyright status

copyrighted

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ScienceSource

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cites work

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Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation

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Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival.

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Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

28 September 2017

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Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

28 September 2017

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28 September 2017

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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

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Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia

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Use of gene-expression profiling to identify prognostic subclasses in adult acute myeloid leukemia

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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

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Detection of FLT3 Internal Tandem Duplication and D835 Mutations by a Multiplex Polymerase Chain Reaction and Capillary Electrophoresis Assay

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Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations.

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

21 January 2018

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Emberger syndrome-Primary lymphedema with myelodysplasia: Report of seven new cases

21 January 2018

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Transcription factor GATA-2 is required for proliferation/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation.

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Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

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Familial partial monosomy 7 and myelodysplasia

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Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell

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12 December 2020

GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis

1 reference

12 December 2020

CEBPA double-mutated acute myeloid leukaemia harbours concomitant molecular mutations in 76·8% of cases with TET2 and GATA2 alterations impacting prognosis

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12 December 2020

GATA2 mutations lead to MDS and AML

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12 December 2020

Identifiers

DOI

10.1186/1756-8722-7-36

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754962%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

15 March 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1756-8722-7-36

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754962%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

PubMed publication ID

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24754962%20AND%20SRC:MED&resulttype=core&format=json