Targeted Therapies in Myelofibrosis: Present Landscape, Ongoing Studies, and Future Perspectives
ABSTRACT Myelofibrosis (MF) is a myeloproliferative neoplasm that is accompanied by driver JAK2, CALR, or MPL mutations in more than 90% of cases, leading to constitutive activation of the JAK–STAT pathway. MF is a multifaceted disease characterized by trilineage myeloid proliferation with prominent megakaryocyte atypia and bone marrow fibrosis, as ...
Giuseppe G. Loscocco, Paola Guglielmelli
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The effect on the equilibrium sickle cell allele frequency of the probable protection conferred by malaria and sickle cell gene against other infectious diseases. [PDF]
Habibzadeh F.
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Comparison of statistical power between 2×2 allele frequency and allele positivity tables in case‐control studies of complex disease genes [PDF]
Jun Ohashi+6 more
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ABSTRACT Allogeneic hematopoietic stem‐cell transplantation (HCT) remains the only potentially curative therapy for patients with myelodysplastic neoplasms (MDS) and myelofibrosis (MF) and is the standard care for eligible patients with higher‐risk disease. Despite significant advancements, both diseases pose unique challenges due to their clinical and
Nico Gagelmann, Nicolaus Kröger
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The contribution of gene flow, selection, and genetic drift to five thousand years of human allele frequency change. [PDF]
Simon A, Coop G.
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ALFRED: an allele frequency database for diverse populations and DNA polymorphisms--an update [PDF]
Michael V. Osier
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Topics of Interest in Women With Myeloproliferative Neoplasms
Women with MPN: life‐cycle phases, specific risks, and influencing factors. ABSTRACT Overview Sex and gender have emerged as central modifiers of disease biology, phenotype, and clinical outcomes in myeloproliferative neoplasms (MPNs). This review will uniquely highlight issues affecting women with MPN and articulate their relevant determinants ...
Natasha Szuber+2 more
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Germline BRCA2 variant with low variant allele frequency detected in tumor-only comprehensive genomic profiling. [PDF]
Hayashi H+8 more
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Clonal Hematopoiesis and Thrombosis
ABSTRACT Clonal hematopoiesis (CH) has been the focus of many research efforts in the last years and has emerged as a risk modifier for cardiovascular disease morbidity and mortality. While substantial evidence has accumulated regarding its impact on arterial system diseases, the connection with venous thrombosis has only recently been explored.
Cornelia Englisch, Cihan Ay
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Correlation between variant allele frequency and mean tumor molecules with tumor burden in patients with solid tumors. [PDF]
Kalashnikova E+18 more
europepmc +1 more source