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Page 1
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition.
Stockklausner C, Raffel S, Klermund J, Bandapalli OR, Beier F, Brümmendorf TH, Bürger F, Sauer SW, Hoffmann GF, Lorenz H, Tagliaferri L, Nowak D, Hofmann WK, Buergermeister R, Kerber C, Rausch T, Korbel JO, Luke B, Trumpp A, Kulozik AE. Stockklausner C, et al. Aging (Albany NY). 2015 Nov;7(11):911-27. doi: 10.18632/aging.100835. Aging (Albany NY). 2015. PMID: 26546739 Free PMC article.
DNA methylation in PRDM8 is indicative for dyskeratosis congenita.
Weidner CI, Lin Q, Birkhofer C, Gerstenmaier U, Kaifie A, Kirschner M, Bruns H, Balabanov S, Trummer A, Stockklausner C, Höchsmann B, Schrezenmeier H, Wlodarski M, Panse J, Brümmendorf TH, Beier F, Wagner W. Weidner CI, et al. Among authors: stockklausner c. Oncotarget. 2016 Mar 8;7(10):10765-72. doi: 10.18632/oncotarget.7458. Oncotarget. 2016. PMID: 26909595 Free PMC article.
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A. Seo A, et al. Among authors: stockklausner c. Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30. Blood. 2017. PMID: 28559357 Free PMC article.
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.
Stockklausner C, Duffert CM, Cario H, Knöfler R, Streif W, Kulozik AE; THROMKID-Plus Studiengruppe der Gesellschaft für Thrombose- und Hämostaseforschung (GTH) and of Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH). Stockklausner C, et al. Ann Hematol. 2021 Jul;100(7):1647-1665. doi: 10.1007/s00277-021-04485-0. Epub 2021 Mar 12. Ann Hematol. 2021. PMID: 33712866 Free PMC article. Review.
19 results