Associated Papers
GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Takasaki K et al.
Advances in Experimental Medicine and Biology, 2024
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Bastida JM et al.
Cells, 2022
Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant.
Jurk K et al.
Cells, 2022
Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21.
Camargo R et al.
Leukemia, 2022
An R307H substitution in GATA1 that prevents Ser310 phosphorylation causes severe fetal anemia.
Hetzer B et al.
Blood Advances, 2022
The polymorphic landscape analysis of GATA1 exons uncovered the genetic variants associated with higher thrombocytopenia in dengue patients.
Al Rimon R et al.
Plos Neglected Tropical Diseases, 2022
Platelet proteome and function in X-linked thrombocytopenia with thalassemia and in silico comparisons with gray platelet syndrome.
Bergemalm D et al.
Haematologica, 2021
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.
Saultier P et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation.
Bouchghoul H et al.
Prenatal Diagnosis, 2018
GATA1 gene variants associated with thrombocytopenia and anemia.
Freson K et al.
Platelets, 2017
Hematopoietic transcription factor mutations: important players in inherited platelet defects.
Songdej N et al.
Blood, 2017
The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.
Wijgaerts A et al.
Haematologica, 2017
Inherited platelet dysfunction and hematopoietic transcription factor mutations.
Songdej N et al.
Platelets, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Lessons in platelet production from inherited thrombocytopenias.
Pecci A et al.
British Journal of Haematology, 2014
Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.
Hermans C et al.
Platelets, 2014
Analysis of disease-causing GATA1 mutations in murine gene complementation systems.
Campbell AE et al.
Blood, 2013
A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.
Singleton BK et al.
British Journal of Haematology, 2013
Genetics of familial forms of thrombocytopenia.
Balduini CL et al.
Human Genetics, 2012
Blood group phenotypes resulting from mutations in erythroid transcription factors.
Singleton BK et al.
Current Opinion in Hematology, 2012
Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction.
Wang Y et al.
Blood, 2011
Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody.
de Waele L et al.
Pediatric Research, 2010
Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation.
Kratz CP et al.
Leukemia, 2008
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria.
Phillips JD et al.
Blood, 2007
GATA transcription factors and hematological diseases.
Harigae H
The Tohoku Journal of Experimental Medicine, 2006
GATA transcription factors in hematologic disease.
Cantor AB
International Journal of Hematology, 2005
Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins.
Cantor AB et al.
Seminars in Cell & Developmental Biology, 2005
GATA1 in normal and malignant hematopoiesis.
Crispino JD
Seminars in Cell & Developmental Biology, 2005
Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1.
Del Vecchio GC et al.
Acta Haematologica, 2005
Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis.
Balduini CL et al.
Thrombosis and Haemostasis, 2004
Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.
Freson K et al.
Human Genetics, 2003
Characterization of the conserved interaction between GATA and FOG family proteins.
Kowalski K et al.
The Journal of Biological Chemistry, 2002
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.
Freson K et al.
Human Molecular Genetics, 2002