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

Sahar Mansour and colleagues report alterations in the transcription factor GATA2 in eight pedigrees with Emberger disorder, which is characterized by primary lymphedema and predispositon to acute myeloid leukemia. Most of the heterozygous variants lead to frameshift mutations and premature termination of GATA2.

Pia Ostergaard
Michael A Simpson
Sahar Mansour
Research04 Sept 2011
Nature Genetics

Volume: 43, P: 929-931
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Emilia J. Kozyra
Victor B. Pastor
Marcin W. Wlodarski
ResearchOpen Access18 Jun 2020
Leukemia

Volume: 34, P: 2673-2687
The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

This Review discusses the molecular processes and clonal evolution that lead to myelodysplastic syndrome (MDS) and secondary acute myeloid leukaemia, highlighting the ways in which these insights are shaping the clinical management of MDS.

Adam S. Sperling
Christopher J. Gibson
Benjamin L. Ebert
Reviews11 Nov 2016
Nature Reviews Cancer

Volume: 17, P: 5-19
Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?

Kiran Tawana
Michael W. Drazer
Jane E. Churpek
Reviews27 Feb 2018
Leukemia

Volume: 32, P: 1482-1492
Galanin receptor 3 attenuates inflammation and influences the gut microbiota in an experimental murine colitis model

Susanne M. Brunner
Florian Reichmann
Barbara Kofler
ResearchOpen Access12 Jan 2021
Scientific Reports

Volume: 11, P: 1-15
Eco-ISEA3H, a machine learning ready spatial database for ecometric and species distribution modeling

Michael F. Mechenich
Indrė Žliobaitė
ResearchOpen Access07 Feb 2023
Scientific Data

Volume: 10, P: 1-28
Galanin is a potent modulator of cytokine and chemokine expression in human macrophages

Andreas Koller
Susanne Maria Brunner
Barbara Kofler
ResearchOpen Access10 May 2019
Scientific Reports

Volume: 9, P: 1-13
SF3B1 and BAP1 mutations in blue nevus-like melanoma

Klaus G Griewank
Hansgeorg Müller
Dirk Schadendorf
Research14 Apr 2017
Modern Pathology

Volume: 30, P: 928-939

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

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?

Galanin receptor 3 attenuates inflammation and influences the gut microbiota in an experimental murine colitis model

Eco-ISEA3H, a machine learning ready spatial database for ecometric and species distribution modeling

Galanin is a potent modulator of cytokine and chemokine expression in human macrophages

SF3B1 and BAP1 mutations in blue nevus-like melanoma

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