Lehrstuhl für Humangenetik

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis (2021) Escala-Garcia M, Canisius S, Keeman R, Beesley J, Anton-Culver H, Arndt V, Augustinsson A, et al. Journal article Genetically Single Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in (2021) Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, Asadollahi R, et al. Journal article Transcriptomes of MPO-deficient patients with generalized pustular psoriasis reveals expansion of CD4+cytotoxic T cells and an involvement of complement system and interferon pathways (2021) Hüffmeier U, Frey B, Becker I, Atreya I, Berking C, Moessner R, Wilsmann-Theis D, et al. Conference contribution The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype (2021) Averdunk L, Sticht H, Surowy H, Luedecke HJ, Koch-Hogrebe M, Alsaif HS, Kahrizi K, et al. Journal article Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome) (2021) Hetzelt K, Winterholler M, Kerling F, Rauch C, Ekici AB, Winterpacht A, Vasileiou G, et al. Journal article Editorial: Intracellular Mechanisms of α-Synuclein Processing. (2021) Zunke F, Winner B, Richter F, Caraveo G Journal article, Editorial STAT1 coordinates intestinal epithelial cell death during gastrointestinal infection upstream of Caspase-8 (2021) Stolzer I, Schickedanz L, Chiriac MT, López-Posadas R, Grassl GA, Mattner J, Wirtz S, et al. Journal article Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in (2021) Winner B, Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, et al. Journal article, Original article Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment (2021) Morra A, Escala-Garcia M, Beesley J, Keeman R, Canisius S, Ahearn TU, Andrulis IL, et al. Journal article β2-microglobulin triggers NLRP3 inflammasome activation in tumor-associated macrophages to promote multiple myeloma progression (2021) Hofbauer D, Mougiakakos D, Broggini L, Zaiss M, Büttner-Herold M, Bach C, Spriewald B, et al. Journal article