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
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
Ludwig LS et al.
Blood, 2022
GATA1 pathogenic variants disrupt MYH10 silencing during megakaryopoiesis.
Saultier P et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
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
Inherited platelet dysfunction and hematopoietic transcription factor mutations.
Songdej N et al.
Platelets, 2017
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 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
Concomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.
Doshi BS et al.
American Journal of Blood Research, 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
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.
Iolascon A et al.
Haematologica, 2012
Blood group phenotypes resulting from mutations in erythroid transcription factors.
Singleton BK et al.
Current Opinion in Hematology, 2012
Mouse models of diseases of megakaryocyte and platelet homeostasis.
Carmichael CL et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2011
Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation.
Dührsen U et al.
Annals of Hematology, 2011
Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation.
Kratz CP et al.
Leukemia, 2008
Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1.
Del Vecchio GC et al.
Acta Haematologica, 2005