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Exome Sequencing of a Blastomycosis Case-Control Cohort From Manitoba and Northwestern Ontario, Canada.
Mycoses
September 2024
Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Manitoba, Canada.
Background: Blastomycosis is a pulmonary disease caused by Blastomyces spp., a group of pathogenic dimorphic fungi endemic to a number of geographic regions, specifically Manitoba and northwestern Ontario, Canada. Immunosuppression is a major risk factor affecting disease susceptibility, yet host immunity is not well understood.
View Article and Find Full Text PDFNovel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.
Front Genet
June 2020
Department of Hematology, National Institute of Blood Diseases and Bone Marrow Transplantation Karachi, Karachi, Pakistan.
Acute myeloid leukemia (AML) is a hematological malignancy characterized by clonal expansion of blast cells that exhibit great genetic heterogeneity. In this study, we describe the mutational landscape and its clinico-pathological significance in 26 myeloid neoplasm patients from a South Asian population (Pakistan) by using ultra-deep targeted next-generation DNA sequencing of 54 genes (∼5000×) and its subsequent bioinformatics analysis. The data analysis indicated novel non-silent somatic mutational events previously not reported in AML, including nine non-synonymous and one stop-gain mutations.
View Article and Find Full Text PDFSynonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Leukemia
October 2020
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2.
View Article and Find Full Text PDFA synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.
Br J Haematol
September 2020
Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
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