Associated Papers
GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Takasaki K et al.
Advances in Experimental Medicine and Biology, 2024
Prenatal diagnosis of Down syndrome combined with transient abnormal myelopoiesis in foetuses with a GATA1 gene variant: two case reports.
Tang H et al.
Molecular Cytogenetics, 2023
Massively parallel base editing to map variant effects in human hematopoiesis.
Martin-Rufino JD et al.
Cell, 2023
Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.
Chen T et al.
Clinical Genetics, 2022
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
Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.
Ludwig LS et al.
Blood, 2022
GATA-1 Defects in Diamond-Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease.
van Dooijeweert B et al.
Genes, 2022
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
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
A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5'UTR GATA1s Splice Mutation.
Zucker J et al.
Pediatric Blood & Cancer, 2016
Hematopoietic transcription factor mutations and inherited platelet dysfunction.
Songdej N et al.
F1000prime Reports, 2015
GATA family transcriptional factors: emerging suspects in hematologic disorders.
Gao J et al.
Experimental Hematology & Oncology, 2015
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
Parrella S et al.
Pediatric Blood & Cancer, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
VarRanker: rapid prioritization of sequence variations associated with human disease.
O'Fallon BD et al.
Bmc Bioinformatics, 2013
GATA1 mutations in myeloproliferative disorders: nomenclature standardization and review of the literature.
Splendore A et al.
Human Mutation, 2005