| |  Online-Ressource |
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| Verfasst von: | Nedoszytko, Bogusław [VerfasserIn]  |
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| | Arock, Michel [VerfasserIn] |
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| | Lyons, Jonathan J. [VerfasserIn] |
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| | Bachelot, Guillaume [VerfasserIn] |
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| | Schwartz, Lawrence B. [VerfasserIn] |
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| | Reiter, Andreas [VerfasserIn] |
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| | Jawhar, Mohamad [VerfasserIn] |
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| | Schwaab, Juliana [VerfasserIn] |
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| | Lange, Magdalena [VerfasserIn] |
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| | Greiner, Georg [VerfasserIn] |
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| | Hoermann, Gregor [VerfasserIn] |
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| | Niedoszytko, Marek [VerfasserIn] |
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| | Metcalfe, Dean D. [VerfasserIn] |
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| | Valent, Peter [VerfasserIn] |
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| Titel: | Clinical impact of inherited and acquired genetic variants in mastocytosis |
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| Verf.angabe: | Boguslaw Nedoszytko, Michel Arock, Jonathan J. Lyons, Guillaume Bachelot, Lawrence B. Schwartz, Andreas Reiter, Mohamad Jawhar, Juliana Schwaab, Magdalena Lange, Georg Greiner, Gregor Hoermann, Marek Niedoszytko, Dean D. Metcalfe and Peter Valent |
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| E-Jahr: | 2021 |
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| Jahr: | 2 January 2021 |
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| Umfang: | 18 S. |
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| Teil: | volume:22 |
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| | year:2021 |
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| | number:1 |
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| | elocationid:411 |
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| | pages:1-18 |
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| | extent:18 |
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| Fussnoten: | Gesehen am 10.05.2021 |
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| Titel Quelle: | Enthalten in: International journal of molecular sciences |
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| Ort Quelle: | Basel : Molecular Diversity Preservation International, 2000 |
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| Jahr Quelle: | 2021 |
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| Band/Heft Quelle: | 22(2021), 1, Artikel-ID 411, Seite 1-18 |
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| ISSN Quelle: | 1422-0067 |
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| | 1661-6596 |
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| Abstract: | Mastocytosis is a rare and complex disease characterized by expansion of clonal mast cells (MC) in skin and/or various internal organ systems. Involvement of internal organs leads to the diagnosis of systemic mastocyt!1446321282!osis (SM). The WHO classification divides SM into indolent SM, smoldering SM and advanced SM variants, including SM with an associated hematologic neoplasm, aggressive SM, and MC leukemia. Historically, genetic analysis of individuals with pure cutaneous mastocytosis (CM) and SM have focused primarily on cohort studies of inherited single nucleotide variants and acquired pathogenic variants. The most prevalent pathogenic variant (mutation) in patients with SM is KIT p.D816V, which is detectable in most adult patients. Other somatic mutations have also been identified—especially in advanced SM—in TET2, SRSF2, ASXL1, RUNX1, CBL and JAK2, and shown to impact clinical and cellular phenotypes. Although only small patient cohorts have been analyzed, disease associations have also been identified in several germline variants within genes encoding certain cytokines or their receptors (IL13, IL6, IL6R, IL31, IL4R) and toll-like receptors. More recently, an increased prevalence of hereditary alpha-tryptasemia (HαT) caused by increased TPSAB1 copy number encoding alpha-tryptase has been described in patients with SM. Whereas HαT is found in 3-6% of general Western populations, it is identified in up to 17% of patients with SM. In the current manuscript we review the prevalence, functional role and clinical impact of various germline and somatic genetic variants in patients with mastocytosis. |
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| DOI: | doi:10.3390/ijms22010411 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.3390/ijms22010411 |
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| | Volltext: https://www.mdpi.com/1422-0067/22/1/411 |
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| | DOI: https://doi.org/10.3390/ijms22010411 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | <i>KIT</i> variants |
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| | gene polymorphisms |
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| | hereditary alpha-tryptasemia |
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| | mast cell activation syndrome |
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| | mast cells |
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| | prognostication |
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| K10plus-PPN: | 1757549781 |
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| Verknüpfungen: | → Zeitschrift |
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Clinical impact of inherited and acquired genetic variants in mastocytosis / Nedoszytko, Bogusław [VerfasserIn]; 2 January 2021 (Online-Ressource)
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