Associated Papers
CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.
Romero-Moya D et al.
Leukemia, 2025
Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.
Cheng WY et al.
Blood, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Modeling GATA2 deficiency in mice: the R396Q mutation disrupts normal hematopoiesis.
Hall T et al.
Leukemia, 2025
GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.
Largeaud L et al.
Blood Cancer Journal, 2025
Impact of cancer therapy on clonal hematopoiesis mutations and subsequent clinical outcomes.
Nead KT et al.
Blood Advances, 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
GATA2 mutant variant allele frequency may reflect prognosis in Chinese adult patients with de novo cytogenetically normal acute myeloid leukemia.
Ren H et al.
Biomolecules & Biomedicine, 2024
The different faces of GATA2 deficiency: implications for therapy and surveillance.
Vinci L et al.
Frontiers in Oncology, 2024
CDMPred: a tool for predicting cancer driver missense mutations with high-quality passenger mutations.
Wang L et al.
Peerj, 2024
A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
West RR et al.
Blood Advances, 2023
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
GATA2 mitotic bookmarking is required for definitive haematopoiesis.
Silvério-Alves R et al.
Nature Communications, 2023
GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.
Rajput RV et al.
Current Hematologic Malignancy Reports, 2023
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Santiago M et al.
Cancers, 2023
Clinical, Imaging, and Laboratory Findings in Patients With GATA2 Deficiency Presenting With Early-Onset Ischemic Stroke.
Bierman-Chow S et al.
Neurology, 2023
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L et al.
British Journal of Haematology, 2022
Germline GATA2 variant disrupting endothelial eNOS function and angiogenesis can be restored by c-Jun/AP-1 upregulation.
Purgatorio G et al.
Haematologica, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Heterozygous variants in GATA2 contribute to DCML deficiency in mice by disrupting tandem protein binding.
Hasegawa A et al.
Communications Biology, 2022
miR-181c regulates MCL1 and cell survival in GATA2 deficient cells.
Wang W et al.
Journal of Leukocyte Biology, 2022
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
Impairment of the Hypothalamus-Pituitary-Thyroid Axis Caused by Naturally Occurring GATA2 Mutations In Vitro.
Sakai Y et al.
International Journal of Molecular Sciences, 2021
A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.
Nakazawa H et al.
International Journal of Hematology, 2021
Generation of two heterozygous GATA2 CRISPR/Cas9-edited iPSC lines, R398W and R396Q, for modeling GATA2 deficiency.
Castaño J et al.
Stem Cell Research, 2021
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.
Oleaga-Quintas C et al.
Journal of Clinical Immunology, 2021
Somatic GATA2 mutations define a subgroup of myeloid malignancy patients at high risk for invasive fungal disease.
Vedula RS et al.
Blood Advances, 2021
Diagnosing MonoMAC Syndrome in GATA2 Germline Mutated Myelodysplastic Syndrome via Next-Generation Sequencing in a Patient with Refractory and Complex Infection: Case Report and Literature Review.
Shen Y et al.
Infection and Drug Resistance, 2021
Constructing and deconstructing GATA2-regulated cell fate programs to establish developmental trajectories.
Johnson KD et al.
The Journal of Experimental Medicine, 2020
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL et al.
Blood, 2020
Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.
Wu Z et al.
Blood Advances, 2020
GATA2 mutations in myeloid malignancies: Two zinc fingers in many pies.
Leubolt G et al.
Iubmb Life, 2020
Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.
Mangaonkar AA et al.
Mayo Clinic Proceedings, 2019
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype.
Alfayez M et al.
Leukemia & Lymphoma, 2019
Impaired immune responses to herpesviruses and microbial ligands in patients with MonoMAC.
Mardahl M et al.
British Journal of Haematology, 2019