Somatic Recombination Between an Ancient and a Recent NOTCH2 Gene Variant Is Associated with the NOT...
Somatic Recombination Between an Ancient and a Recent NOTCH2 Gene Variant Is Associated with the NOTCH2 Gain-of-Function Phenotype in Chronic Lymphocytic Leukemia
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Author / Creator
Hubmann, Rainer , Hilgarth, Martin , Löwenstern, Tamara , Lienhard, Andrea , Sima, Filip , Reisinger, Manuel , Hobel-Kleisch, Claudia , Porpaczy, Edit , Haferlach, Torsten , Hoermann, Gregor , Laccone, Franco , Jungbauer, Christof , Valent, Peter , Staber, Philipp B. , Shehata, Medhat and Jäger, Ulrich
Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Constitutively active NOTCH2 signaling is a hallmark in chronic lymphocytic leukemia (CLL). The precise underlying defect remains obscure. Here we show that the mRNA sequence coding for the NOTCH2 negative regulatory region (NRR) is consistently deleted in CLL cells. The most common NOTCH2ΔNRR-DEL2 deletion is associated with two intronic single nu...
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Full title
Somatic Recombination Between an Ancient and a Recent NOTCH2 Gene Variant Is Associated with the NOTCH2 Gain-of-Function Phenotype in Chronic Lymphocytic Leukemia
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Record Identifier
TN_cdi_proquest_miscellaneous_3146916003
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3146916003
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ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms252312581
