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Page 1
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: rappl g. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
Noncanonical effector functions of the T-memory-like T-PLL cell are shaped by cooperative TCL1A and TCR signaling.
Oberbeck S, Schrader A, Warner K, Jungherz D, Crispatzu G, von Jan J, Chmielewski M, Ianevski A, Diebner HH, Mayer P, Kondo Ados A, Wahnschaffe L, Braun T, Müller TA, Wagle P, Bouska A, Neumann T, Pützer S, Varghese L, Pflug N, Thelen M, Makalowski J, Riet N, Göx HJM, Rappl G, Altmüller J, Kotrová M, Persigehl T, Hopfinger G, Hansmann ML, Schlößer H, Stilgenbauer S, Dürig J, Mougiakakos D, von Bergwelt-Baildon M, Roeder I, Hartmann S, Hallek M, Moriggl R, Brüggemann M, Aittokallio T, Iqbal J, Newrzela S, Abken H, Herling M. Oberbeck S, et al. Among authors: rappl g. Blood. 2020 Dec 10;136(24):2786-2802. doi: 10.1182/blood.2019003348. Blood. 2020. PMID: 33301031 Free PMC article.
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
Klaschik K, Hauke J, Neidhardt G, Tränkle C, Surowy HM, Heilmann-Heimbach S, Rappl G, Mangold E, Arnold N, Niederacher D, Sutter C, Burwinkel B, Engel C, Wappenschmidt B, Meindl A, Ernst C, Weber-Lassalle K, Weber-Lassalle N, Schmidt S, Borde J, Schmutzler RK, Hahnen E, Pohl-Rescigno E. Klaschik K, et al. Among authors: rappl g. Int J Cancer. 2019 Apr 1;144(7):1761-1763. doi: 10.1002/ijc.32016. Epub 2019 Jan 6. Int J Cancer. 2019. PMID: 30474284 No abstract available.
51 results