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
Human iPSCs-based modeling unveils SETBP1 as a driver of chromatin rewiring in GATA2 deficiency.
Pera J et al.
Nature Communications, 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
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
Rukerd MRZ et al.
Bmc Infectious Diseases, 2024
Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.
Jakobsen NA et al.
Cell Stem Cell, 2024
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.
Roncareggi S et al.
Journal of Clinical Immunology, 2023
A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.
West RR et al.
Blood Advances, 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
[Nontuberculous mycobacteria infection and pulmonary alveolar proteinosis in a patient with hematopoietic defects].
Shi C et al.
Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2023
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy.
Zerella JR et al.
Frontiers in Oncology, 2023
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L et al.
British Journal of Haematology, 2022
RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.
Kaisrlikova M et al.
Leukemia, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 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
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Single Center Experience With Pediatric Patients With GATA2 Deficiency.
Ovsyannikova G et al.
Frontiers in Pediatrics, 2022
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 2021
Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.
Fornerod M et al.
Blood Cancer Discovery, 2021
Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema.
Martin-Almedina S et al.
Physiological Reviews, 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
Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.
Andrés-Zayas C et al.
Molecular Oncology, 2021
When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis.
Saettini F et al.
Pediatric Hematology and Oncology, 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
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial.
Fenwarth L et al.
Haematologica, 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
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ et al.
Leukemia, 2020