Articles with "kit d816v" as a keyword



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Impact of somatic and germline mutations on the outcome of systemic mastocytosis.

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Published in 2018 at "Blood advances"

DOI: 10.1182/bloodadvances.2018020628

Abstract: Systemic mastocytosis (SM) is a highly heterogeneous disease with indolent and aggressive forms, with the mechanisms leading to malignant transformation still remaining to be elucidated. Here, we investigated the presence and frequency of genetic variants… read more here.

Keywords: involving genes; kit d816v; systemic mastocytosis; germline ... See more keywords

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis

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Published in 2022 at "Cancers"

DOI: 10.3390/cancers14102487

Abstract: Simple Summary Systemic mastocytosis (SM) is a clonal haematopoietic stem cell disease typically characterized by the expansion and accumulation of neoplastic mast cells carrying the activating KIT D816V as a driver mutation. Multilineage involvement of… read more here.

Keywords: haematopoiesis; kit d816v; mutation; systemic mastocytosis ... See more keywords
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Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy

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Published in 2020 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms21113987

Abstract: In recent years, molecular characterization and management of patients with systemic mastocytosis (SM) have greatly benefited from the application of advanced technologies. Highly sensitive and accurate assays for KIT D816V mutation detection and quantification have… read more here.

Keywords: kit d816v; prognosis; biology; recent advances ... See more keywords