GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome (Q28704337)

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26 February 2020

title

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome (English)

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26 February 2020

0 references

0 references

1 reference

1

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26 February 2020

Lauren A Sanchez

5

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26 February 2020

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Emery H Bresnick

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26 February 2020

author name string

Kirby D Johnson

2

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26 February 2020

E Liana Falcone

3

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26 February 2020

Rajendran Sanalkumar

4

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26 February 2020

Dennis D Hickstein

6

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26 February 2020

Jennifer Cuellar-Rodriguez

7

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Jacob E Lemieux

8

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26 February 2020

Christa S Zerbe

9

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Steven M Holland

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26 February 2020

language of work or name

English

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publication date

15 March 2013

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26 February 2020

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26 February 2020

volume

121

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issue

19

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page(s)

3830-7, S1-7

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Structure of the leukemia oncogene LMO2: implications for the assembly of a hematopoietic transcription factor complex

26 February 2020

cites work

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17 March 2017

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17 March 2017

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17 March 2017

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Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis

17 March 2017

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Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning

7 April 2017

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Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity

3 June 2018

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Integration of Hi-C and ChIP-seq data reveals distinct types of chromatin linkages

3 June 2018

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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

3 June 2018

1 reference

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

3 June 2018

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Genetic framework for GATA factor function in vascular biology

3 June 2018

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Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

3 June 2018

1 reference

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

3 June 2018

1 reference

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

3 June 2018

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Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications

3 June 2018

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Nuclear adaptor Ldb1 regulates a transcriptional program essential for the maintenance of hematopoietic stem cells

3 June 2018

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3 June 2018

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Combinatorial transcriptional control in blood stem/progenitor cells: genome-wide analysis of ten major transcriptional regulators.

3 June 2018

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3 June 2018

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Modeling reveals bistability and low-pass filtering in the network module determining blood stem cell fate

3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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

3 June 2018

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A compendium of genome-wide hematopoietic transcription factor maps supports the identification of gene regulatory control mechanisms

27 November 2018

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A Gata2 intronic enhancer confers its pan-endothelia-specific regulation

27 November 2018

1 reference

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Genome-wide identification of cis-regulatory sequences controlling blood and endothelial development.

27 November 2018

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10.1182/BLOOD-2012-08-452763

27 November 2018

Identifiers

DOI

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26 February 2020

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26 February 2020

PubMed publication ID

23502222

1 reference

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