(Q35750366)

English

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

scientific article published on 6 December 2011

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scholarly article

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Primary lymphedema

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Janette Kazenwadel

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

10

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18 January 2020

15

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18 January 2020

Marshall Horwitz

18

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18 January 2020

Hamish S. Scott

20

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18 January 2020

21

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18 January 2020

Conrad V Fernandez

9

object named as

Conrad V Fernandez

1 reference

Europe PubMed Central

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18 January 2020

author name string

Genevieve A Secker

2

1 reference

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18 January 2020

Yajuan J Liu

3

1 reference

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18 January 2020

Jill A Rosenfeld

4

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18 January 2020

Robert S Wildin

5

1 reference

Europe PubMed Central

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18 January 2020

Jennifer Cuellar-Rodriguez

6

1 reference

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18 January 2020

Amy P Hsu

7

1 reference

Europe PubMed Central

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18 January 2020

Sarah Dyack

8

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18 January 2020

Milena Babic

11

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18 January 2020

Peter G Bardy

12

1 reference

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18 January 2020

Akiko Shimamura

13

1 reference

Europe PubMed Central

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18 January 2020

Michael Y Zhang

14

1 reference

Europe PubMed Central

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18 January 2020

Steven M Holland

16

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Europe PubMed Central

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18 January 2020

Dennis D Hickstein

17

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18 January 2020

Christopher N Hahn

19

1 reference

Europe PubMed Central

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18 January 2020

language of work or name

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publication date

6 December 2011

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18 January 2020

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

119

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Europe PubMed Central

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18 January 2020

5

1 reference

Europe PubMed Central

PMC publication ID

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18 January 2020

1283-1291

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3277359/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Prox1 dosage controls the number of lymphatic endothelial cell progenitors and the formation of the lymphovenous valves

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Genes regulating lymphangiogenesis control venous valve formation and maintenance in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Epigenetically coordinated GATA2 binding is necessary for endothelium-specific endomucin expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Connexin37 and Connexin43 deficiencies in mice disrupt lymphatic valve development and result in lymphatic disorders including lymphedema and chylothorax

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Prox1 expression is negatively regulated by miR-181 in endothelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

GJC2 missense mutations cause human lymphedema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Lymphangiogenesis: Molecular mechanisms and future promise

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Integrin-alpha9 is required for fibronectin matrix assembly during lymphatic valve morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

FOXC2 controls formation and maturation of lymphatic collecting vessels through cooperation with NFATc1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

The cancer genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

A mechanosensitive transcriptional mechanism that controls angiogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Gata2 is a tissue-specific post-mitotic selector gene for midbrain GABAergic neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Hemodynamic shear stress and the endothelium in cardiovascular pathophysiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

miR-451 regulates zebrafish erythroid maturation in vivo via its target gata2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

The angiopoietin-2 gene of endothelial cells is up-regulated in hypoxia by a HIF binding site located in its first intron and by the central factors GATA-2 and Ets-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Defective remodeling and maturation of the lymphatic vasculature in Angiopoietin-2 deficient mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Molecular insights into Down syndrome-associated leukemia

1 reference

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12 July 2018

Pituitary-specific Gata2 knockout: effects on gonadotrope and thyrotrope function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

An Oct-1 binding site mediates activation of the gata2 promoter by BMP signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

RBPjkappa-dependent Notch function regulates Gata2 and is essential for the formation of intra-embryonic hematopoietic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

PDZ interaction site in ephrinB2 is required for the remodeling of lymphatic vasculature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

IGF-1 induces skeletal myocyte hypertrophy through calcineurin in association with GATA-2 and NF-ATc1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

Characterization of the human platelet/endothelial cell adhesion molecule-1 promoter: identification of a GATA-2 binding element required for optimal transcriptional activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

25 September 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

25 September 2018

Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

25 September 2018

Angiopoietin-2 is required for postnatal angiogenesis and lymphatic patterning, and only the latter role is rescued by Angiopoietin-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3277359

15 November 2018

Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22147895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary lymphedema and acute leukemia--is there a link?

1 reference

https://pubmed.ncbi.nlm.nih.gov/22147895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GATA2 mutations lead to MDS and AML

1 reference

https://pubmed.ncbi.nlm.nih.gov/22147895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of SCL/Tal-1, GATA, and ets transcription factor binding sites for the regulation of flk-1 expression during murine vascular development

1 reference

https://pubmed.ncbi.nlm.nih.gov/22147895

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1182/BLOOD-2011-08-374363

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22147895%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

ResearchGate publication ID

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