(Q37564756)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

0 references

1 reference

2

1 reference

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29 February 2020

Amy P Hsu

3

1 reference

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29 February 2020

Katherine R. Calvo

6

1 reference

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29 February 2020

Emily M. Mace

21

1 reference

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29 February 2020

Jordan S. Orange

22

1 reference

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29 February 2020

14

Gulbu Uzel

1 reference

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29 February 2020

13

Kenneth N Olivier

1 reference

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29 February 2020

17

Christine D Spalding

1 reference

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29 February 2020

5

Christa S Zerbe

1 reference

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29 February 2020

1

Michael A Spinner

1 reference

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29 February 2020

15

Adrian M Zelazny

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

16

Janine R Daub

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

Jennifer Cuellar-Rodriguez

29 February 2020

23

object named as

Jennifer Cuellar-Rodriguez

1 reference

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29 February 2020

24

Dennis D Hickstein

1 reference

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29 February 2020

author name string

Pamela A Shaw

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Diane C Arthur

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Wenjuan Gu

8

1 reference

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29 February 2020

Christine M Gould

9

1 reference

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29 February 2020

Carmen C Brewer

10

1 reference

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29 February 2020

Edward W Cowen

11

1 reference

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29 February 2020

Alexandra F Freeman

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Reginald J Claypool

18

1 reference

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29 February 2020

Neelam K Giri

19

1 reference

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29 February 2020

Blanche P Alter

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Steven M Holland

25

1 reference

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29 February 2020

language of work or name

English

0 references

publication date

13 November 2013

1 reference

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29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

123

1 reference

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29 February 2020

issue

6

1 reference

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29 February 2020

page(s)

809-821

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

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

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Warts and all: human papillomavirus in primary immunodeficiencies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Comprehensive molecular portraits of human breast tumours

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Adult-onset immunodeficiency in Thailand and Taiwan

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Genetic framework for GATA factor function in vascular biology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

GATA2 mediates thyrotropin-releasing hormone-induced transcriptional activation of the thyrotropin β gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Gata2 is required for the development of inner ear semicircular ducts and the surrounding perilymphatic space

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

A method and server for predicting damaging missense mutations

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Review: Functional role of uterine natural killer (uNK) cells in human early pregnancy decidua

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Gata4 directs development of cardiac-inducing endoderm from ES cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Mutation of GATA3 in human breast tumors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

GATA4 is essential for formation of the proepicardium and regulates cardiogenesis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Effect of transcription factor GATA-2 on phagocytic activity of alveolar macrophages from Pneumocystis carinii-infected hosts

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

GATA3 haplo-insufficiency causes human HDR syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

A lineage-selective knockout establishes the critical role of transcription factor GATA-1 in megakaryocyte growth and platelet development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

GATA-2 and GATA-3 regulate trophoblast-specific gene expression in vivo

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Transcription factor GATA-3 is required for development of the T-cell lineage

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

An early haematopoietic defect in mice lacking the transcription factor GATA-2

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

GATA factor activity is required for the trophoblast-specific transcriptional regulation of the mouse placental lactogen I gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Regulation of GATA4 transcriptional activity in cardiovascular development and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Human dendritic cell deficiency: the missing ID?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Regulation of trophoblast-specific factors by GATA2 and GATA3 in bovine trophoblast CT-1 cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

A reevaluation of the duration of survival after the onset of dementia.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Severe herpesvirus infections in an adolescent without natural killer cells

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916876

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

3 December 2018

1 reference

12 December 2020

A family inheriting different subtypes of acute myelogenous leukemia

1 reference

12 December 2020

Interferon gamma, IL-12, IL-12R and STAT-1 immunodeficiency diseases: disorders of the interface of innate and adaptive immunity

1 reference

12 December 2020

Ultrastructural Studies of Implantation Sites from Mice Deficient in Uterine Natural Killer Cells

1 reference

12 December 2020

Pulmonary alveolar proteinosis

1 reference

12 December 2020

10.1182/BLOOD-2013-07-515528

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

24227816

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24227816%20AND%20SRC:MED&resulttype=core&format=json