Associated Papers
Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.
Loh JB et al.
Annals of Hematology, 2024
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopenia.
Zaninetti C et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Pathogenic GATA2 genetic variants utilize an obligate enhancer mechanism to distort a multilineage differentiation program.
Katsumura KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
A novel GATA1 variant p.G229D causing the defect of procoagulant platelet formation.
Ding B et al.
Thrombosis Research, 2024
GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Takasaki K et al.
Advances in Experimental Medicine and Biology, 2024
First reported co-occurrence of "GATA1-mutated X-linked thrombocytopenia with thalassemia (XLTT)" with heterozygous β-thalassemia.
Singh N et al.
International Journal of Laboratory Hematology, 2023
A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting.
Pallavelangini S et al.
The Journal of Molecular Diagnostics : Jmd, 2023
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
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
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Faleschini M et al.
Haematologica, 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
Forming megakaryocytes from murine-induced pluripotent stem cells by the inducible overexpression of supporting factors.
Cullmann K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?
Bresnick EH et al.
Blood Advances, 2020
Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia.
Jamwal M et al.
Blood Cells, Molecules & Diseases, 2020
Quantitative and qualitative impairments in GATA2 and myeloid neoplasms.
Shimizu R et al.
Iubmb Life, 2020
The Comprehensive Analyses of Genomic Variations and Assessment of TMB and PD-L1 Expression in Chinese Lung Adenosquamous Carcinoma.
Cheng Y et al.
Frontiers in Genetics, 2020
Chromatin occupancy and epigenetic analysis reveal new insights into the function of the GATA1 N terminus in erythropoiesis.
Ling T et al.
Blood, 2019
A Case of Chronic Thrombocytopenia in a 17-Year-Old Female.
Riley R et al.
Laboratory Medicine, 2019
Prognostic significance of mutated genes in megakaryocytic disorders.
Asnafi AA et al.
Oncology Reviews, 2019
The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.
Barbarani G et al.
Frontiers in Physiology, 2019
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
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E et al.
British Journal of Haematology, 2017
Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.
Greinacher A et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
GATA Transcription Factors: Basic Principles and Related Human Disorders.
Fujiwara T
The Tohoku Journal of Experimental Medicine, 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
Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
Nurden AT et al.
American Journal of Hematology, 2016
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.
Di Pierro E et al.
European Journal of Haematology, 2015
GATA family transcriptional factors: emerging suspects in hematologic disorders.
Gao J et al.
Experimental Hematology & Oncology, 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
Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.
Pecci A
International Journal of Hematology, 2013
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
Diagnosis and management of inherited thrombocytopenias.
Balduini CL et al.
Seminars in Thrombosis and Hemostasis, 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