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

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1 reference

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26 February 2020

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26 February 2020

Emery H Bresnick

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26 February 2020

Kirby D Johnson

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26 February 2020

E Liana Falcone

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26 February 2020

Rajendran Sanalkumar

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26 February 2020

Dennis D Hickstein

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26 February 2020

Jennifer Cuellar-Rodriguez

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26 February 2020

Jacob E Lemieux

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26 February 2020

Christa S Zerbe

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26 February 2020

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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26 February 2020

issue

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26 February 2020

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

1 reference

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17 March 2017

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Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia

17 March 2017

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Discovering hematopoietic mechanisms through genome-wide analysis of GATA factor chromatin occupancy

17 March 2017

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17 March 2017

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Gata2, Fli1, and Scl form a recursively wired gene-regulatory circuit during early hematopoietic development

17 March 2017

1 reference

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

17 March 2017

1 reference

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The timing of eukaryotic evolution: does a relaxed molecular clock reconcile proteins and fossils?

17 March 2017

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Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

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Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning

7 April 2017

1 reference

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

3 June 2018

1 reference

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

3 June 2018

1 reference

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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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

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

3 June 2018

1 reference

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Genetic framework for GATA factor function in vascular biology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

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

3 June 2018

1 reference

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

3 June 2018

1 reference

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

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

3 June 2018

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Genome-wide analysis of ETS-family DNA-binding in vitro and in vivo

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

1 reference

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Rapid quantification of DNA methylation by measuring relative peak heights in direct bisulfite-PCR sequencing traces

3 June 2018

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ENCODE whole-genome data in the UCSC Genome Browser

3 June 2018

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Differential GATA factor stabilities: implications for chromatin occupancy by structurally similar transcription factors

3 June 2018

1 reference

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Runx1-mediated hematopoietic stem-cell emergence is controlled by a Gata/Ets/SCL-regulated enhancer

3 June 2018

1 reference

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Context-dependent GATA factor function: combinatorial requirements for transcriptional control in hematopoietic and endothelial cells

3 June 2018

1 reference

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GATA-2 plays two functionally distinct roles during the ontogeny of hematopoietic stem cells

3 June 2018

1 reference

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

3 June 2018

1 reference

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

27 November 2018

1 reference

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3650705

10.1182/BLOOD-2012-08-452763

27 November 2018

Identifiers

DOI

1 reference

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26 February 2020

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26 February 2020

PubMed publication ID

23502222

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23502222%20AND%20SRC:MED&resulttype=core&format=json