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

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

(2011) R. E. Dickinson et al.   BLOOD

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

(2011) A. P. Hsu et al.   BLOOD

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

(2011) John D. Kanady et al.   DEVELOPMENTAL BIOLOGY

Epigenetically coordinated GATA2 binding is necessary for endothelium-specificendomucinexpression

(2011) Yasuharu Kanki et al.   EMBO JOURNAL

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

(2011) R. S. Srinivasan et al.   GENES & DEVELOPMENT

Genes regulating lymphangiogenesis control venous valve formation and maintenance in mice

(2011) Eleni Bazigou et al.   JOURNAL OF CLINICAL INVESTIGATION

GATA2 mutations lead to MDS and AML

(2011) R. Katherine Hyde et al.   NATURE GENETICS

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

(2011) Pia Ostergaard et al.   NATURE GENETICS

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

(2011) Christopher N Hahn et al.   NATURE GENETICS

GJC2 Missense Mutations Cause Human Lymphedema

(2010) Robert E. Ferrell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) J. Kazenwadel et al.   BLOOD

Lymphangiogenesis: Molecular Mechanisms and Future Promise

(2010) Tuomas Tammela et al.   CELL

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

(2010) Maarja Haugas et al.   DEVELOPMENTAL DYNAMICS

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

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2009) D. C. Vinh et al.   BLOOD

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

(2009) BC Ballif et al.   CLINICAL GENETICS

Integrin-α9 Is Required for Fibronectin Matrix Assembly during Lymphatic Valve Morphogenesis

(2009) Eleni Bazigou et al.   DEVELOPMENTAL CELL

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

(2009) Camilla Norrmén et al.   JOURNAL OF CELL BIOLOGY

A mechanosensitive transcriptional mechanism that controls angiogenesis

(2009) Akiko Mammoto et al.   NATURE

The cancer genome

(2009) Michael R. Stratton et al.   NATURE

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

(2009) Marielle Alders et al.   NATURE GENETICS

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

(2008) L. Pase et al.   BLOOD

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

(2008) K. Kala et al.   DEVELOPMENT

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

(2008) Michael Dellinger et al.   DEVELOPMENTAL BIOLOGY

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

(2008) Marie-Pierre Simon et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Hemodynamic shear stress and the endothelium in cardiovascular pathophysiology

(2008) Peter F Davies   Nature clinical practice. Cardiovascular medicine