Search Results - "Bartlomiej, Przychodzen"
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Genetic alterations of the cohesin complex genes in myeloid malignancies
Published in Blood (11-09-2014)“…Somatic cohesin mutations have been reported in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). To account for the morphologic and cytogenetic…”
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Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms
Published in Blood (08-08-2013)“…Recently, recurrent mutations of spliceosomal genes were frequently identified in myeloid malignancies, as well as other types of cancers. One of these…”
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Rational management approach to pure red cell aplasia
Published in Haematologica (Roma) (01-02-2018)“…Pure red cell aplasia is an orphan disease, and as such lacks rationally established standard therapies. Most cases are idiopathic; a subset is…”
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Identification of potential COVID-19 treatment compounds which inhibit SARS Cov2 prototypic, Delta and Omicron variant infection
Published in Virology (New York, N.Y.) (01-07-2022)“…Recurrent waves of COVID19 remain a major global health concern. Repurposing either FDA-approved or clinically advanced drug candidates can save time and…”
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Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
Published in Blood (05-04-2012)“…Myelodysplastic syndromes (MDSs) are chronic and often progressive myeloid neoplasms associated with remarkable heterogeneity in the histomorphology and…”
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Assessing the potential correlation of polymorphisms in the IL6R with relative IL6 elevation in severely ill COVID-19 patients
Published in Cytokine (Philadelphia, Pa.) (01-12-2021)“…•Elevated IL-6 may play an important role in the pathophysiology of COVID-19 yet attenuated response is not seen across all severe patients.•This study reports…”
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Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting
Published in Nature communications (28-02-2024)“…PHF6 mutations ( PHF6 MT ) are identified in various myeloid neoplasms (MN). However, little is known about the precise function and consequences of PHF6 in…”
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Consequences of mutant TET2 on clonality and subclonal hierarchy
Published in Leukemia (01-08-2018)“…Somatic mutations in TET2 are common in myelodysplastic syndromes (MDS), myeloproliferative, and overlap syndromes. TET2 mutant ( TET2 MT ) clones are also…”
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Rare germline variant contributions to myeloid malignancy susceptibility
Published in Leukemia (01-06-2020)Get full text
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Elevated plasma levels of CXCL16 in severe COVID-19 patients
Published in Cytokine (Philadelphia, Pa.) (01-04-2022)“…Genome-wide association studies have recently identified 3p21.31, with lead variant pointing to the CXCR6 gene, as the strongest thus far reported…”
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Somatic SETBP1 mutations in myeloid malignancies
Published in Nature genetics (01-08-2013)“…Jaroslaw Maciejewski and colleagues report whole-exome sequencing of 20 cases of myeloid malignancies, with follow up of SETBP1 in 727 further cases of myeloid…”
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Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes
Published in Nature communications (26-11-2019)“…Myelodysplastic syndromes (MDS) arise in older adults through stepwise acquisitions of multiple somatic mutations. Here, analyzing 1809 MDS patients, we infer…”
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Genomics of therapy-related myeloid neoplasms
Published in Haematologica (Roma) (01-03-2020)Get full text
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Mutation clonal burden and allogeneic hematopoietic cell transplantation outcomes in acute myeloid leukemia and myelodysplastic syndromes
Published in Bone marrow transplantation (Basingstoke) (01-08-2019)“…Next generation sequencing (NGS) has become an important tool to inform disease risk for myeloid malignancies, however data remains conflicting regarding the…”
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Distinctive and common features of moderate aplastic anaemia
Published in British journal of haematology (01-06-2020)“…Summary The therapy algorithm for severe aplastic anaemia (sAA) is established but moderate AA (mAA), which likely reflects a more diverse pathogenic…”
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CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia
Published in Blood (26-05-2011)“…Progression of chronic myelogenous leukemia (CML) to accelerated (AP) and blast phase (BP) is because of secondary molecular events, as well as additional…”
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PBRM1 loss in kidney cancer unbalances the proximal tubule master transcription factor hub to repress proximal tubule differentiation
Published in Cell reports (Cambridge) (21-09-2021)“…PBRM1, a subunit of the PBAF coactivator complex that transcription factors use to activate target genes, is genetically inactivated in almost all clear cell…”
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Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes
Published in Blood (22-11-2018)Get full text
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Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis
Published in Journal of the American Academy of Dermatology (01-12-2021)“…[Display omitted]…”
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