(Q37564769)

21 August 2017

The evolution of cellular deficiency in GATA2 mutation (English)

1 reference

21 August 2017

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Naomi Mcgovern

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Alexander Langridge

9

1 reference

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11 June 2020

Mikko Seppänen

14

1 reference

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11 June 2020

Eleonora Gambineri

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

James E Thaventhiran

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Gideon M. Hirschfield

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Stephen Jolles

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Chris M Bacon

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Yenan Bryceson

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

John Dick

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Venetia Bigley

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

3

Laura Jardine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

27

Muzlifah Haniffa

1 reference

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11 June 2020

11

Andrew Gennery

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

10

Sarah Pagan

1 reference

11 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

4

Sasan Zandi

1 reference

11 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

30

Josef T Prchal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

26

Sophie Hambleton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Rachel E Dickinson

1

1 reference

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11 June 2020

Paul Milne

2

1 reference

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11 June 2020

Sabina I Swierczek

5

1 reference

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11 June 2020

Sharon Cookson

7

1 reference

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11 June 2020

Zaveyna Ferozepurwalla

8

1 reference

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11 June 2020

Tarja Heiskanen-Kosma

12

1 reference

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11 June 2020

Sari Hämäläinen

13

1 reference

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11 June 2020

Matthew Helbert

15

1 reference

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11 June 2020

Eleni Tholouli

16

1 reference

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11 June 2020

Sigrún Reykdal

18

1 reference

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11 June 2020

Emma Morris

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Alex G Richter

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Carl Allen

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Matthew Collin

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

17 December 2013

1 reference

21 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

863-874

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

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

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Clinical and biological implications of driver mutations in myelodysplastic syndromes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

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=3916878

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=3916878

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=3916878

Preventing preterm births: analysis of trends and potential reductions with interventions in 39 countries with very high human development index

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

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

23 August 2017

1 reference

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CD8 T cells express randomly selected KIRs with distinct specificities compared with NK cells

23 August 2017

1 reference

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The inverted CD4/CD8 ratio and associated parameters in 66-year-old individuals: the Swedish HEXA immune study

23 August 2017

1 reference

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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.

23 August 2017

1 reference

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Cytometry by time-of-flight shows combinatorial cytokine expression and virus-specific cell niches within a continuum of CD8+ T cell phenotypes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

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=3916878

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=3916878

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=3916878

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=3916878

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=3916878

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=3916878

NK cell terminal differentiation: correlated stepwise decrease of NKG2A and acquisition of KIRs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Antimicrobial activity of mucosal-associated invariant T cells

23 August 2017

1 reference

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

23 August 2017

1 reference

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Feedback control of regulatory T cell homeostasis by dendritic cells in vivo

23 August 2017

1 reference

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Hematopoiesis is not clonal in healthy elderly women.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

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

23 August 2017

1 reference

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

23 August 2017

1 reference

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Levels of soluble CD40 ligand (CD154) in serum are increased in human immunodeficiency virus type 1-infected patients and correlate with CD4(+) T-cell counts

23 August 2017

1 reference

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Mice lacking flt3 ligand have deficient hematopoiesis affecting hematopoietic progenitor cells, dendritic cells, and natural killer cells

23 August 2017

1 reference

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Two subsets of memory T lymphocytes with distinct homing potentials and effector functions

23 August 2017

1 reference

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Biochemical and genetic characterization of multiple splice variants of the Flt3 ligand

23 August 2017

1 reference

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Ligand for FLT3/FLK2 receptor tyrosine kinase regulates growth of haematopoietic stem cells and is encoded by variant RNAs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

NK cell responses to cytomegalovirus infection lead to stable imprints in the human KIR repertoire and involve activating KIRs

23 August 2017

1 reference

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Dermal necrosis and chromosome Iq abnormality in a man with a familial myeloproliferative disorder

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Dendritic cell homeostasis is maintained by nonhematopoietic and T-cell-produced Flt3-ligand in steady state and during immune responses.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

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

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Phenotypic and functional separation of memory and effector human CD8+ T cells

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Familial Acute Myeloid Leukaemia with Acquired Pelger-Huet Anomaly and Aneuploidy of C Group

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Highly variable clinical manifestations in a large family with a novel GATA2 mutation.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

CD56brightCD16+ NK cells: a functional intermediate stage of NK cell 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=3916878

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Differential cytokine/chemokines and KL-6 profiles in patients with different forms of tuberculosis

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

A new CD21low B cell population in the peripheral blood of patients with SLE.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

Flt3-ligand and granulocyte colony-stimulating factor mobilize distinct human dendritic cell subsets in vivo

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

FLT-3 ligand provides hematopoietic protection from total body irradiation in rabbits.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916878

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=3916878

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=3916878

Plasma/serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemia

3 December 2018

1 reference

12 December 2020

A family inheriting different subtypes of acute myelogenous leukemia

1 reference

12 December 2020

FLT3 ligand preserves the ability of human CD34+ progenitors to sustain long-term hematopoiesis in immune-deficient mice after ex vivo retroviral-mediated transduction

1 reference

12 December 2020

Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy

1 reference

12 December 2020

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

1 reference

12 December 2020

Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes

1 reference

12 December 2020

Serum Flt3 Ligand Variation as a Predictive Indicator of Hematopoietic Stem Cell Mobilization

1 reference

12 December 2020

10.1182/BLOOD-2013-07-517151

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

24345756

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24345756%20AND%20SRC:MED&resulttype=core&format=json