@article{AntoniouKuchenbaeckerSoucyetal.2012,
  author    = {Antoniou, Antonis C. and Kuchenbaecker, Karoline B. and Soucy, Penny and Beesley, Jonathan and Chen, Xiaoqing and McGuffog, Lesley and Lee, Andrew and Barrowdale, Daniel and Healey, Sue and Sinilnikova, Olga M. and Caligo, Maria A. and Loman, Niklas and Harbst, Katja and Lindblom, Annika and Arver, Brita and Rosenquist, Richard and Karlsson, Per and Nathanson, Kate and Domchek, Susan and Rebbeck, Tim and Jakubowska, Anna and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Zlowowcka-Perłowska, Elżbieta and Osorio, Ana and Dur{\´a}n, Mercedes and Andr{\´e}s, Raquel and Ben{\´i}tez, Javier and Hamann, Ute and Hogervorst, Frans B. and van Os, Theo A. and Verhoef, Senno and Meijers-Heijboer, Hanne E. J. and Wijnen, Juul and Garcia, Encarna B. G{\´o}mez and Ligtenberg, Marjolijn J. and Kriege, Mieke and Coll{\´e}e, Margriet and Ausems, Margreet G. E. M. and Oosterwijk, Jan C. and Peock, Susan and Frost, Debra and Ellis, Steve D. and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Lalloo, Fiona and Jacobs, Chris and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Cole, Trevor and Cook, Jackie and Paterson, Joan and Douglas, Fiona and Brewer, Carole and Hodgson, Shirley and Morrison, Patrick J. and Walker, Lisa and Rogers, Mark T. and Donaldson, Alan and Dorkins, Huw and Godwin, Andrew K. and Bove, Betsy and Stoppa-Lyonnet, Dominique and Houdayer, Claude and Buecher, Bruno and de Pauw, Antoine and Mazoyer, Sylvie and Calender, Alain and L{\´e}on{\´e}, M{\´e}lanie and Bressac-de Paillerets, Brigitte and Caron, Olivier and Sobol, Hagay and Frenay, Marc and Prieur, Fabienne and Ferrer, Sandra Fert and Mortemousque, Isabelle and Buys, Saundra and Daly, Mary and Miron, Alexander and Terry, Mary Beth and Hopper, John L. and John, Esther M. and Southey, Melissa and Goldgar, David and Singer, Christian F. and Fink-Retter, Anneliese and Muy-Kheng, Tea and Geschwantler Kaulich, Daphne and Hansen, Thomas V. O. and Nielsen, Finn C. and Barkardottir, Rosa B. and Gaudet, Mia and Kirchhoff, Tomas and Joseph, Vijai and Dutra-Clarke, Ana and Offit, Kenneth and Piedmonte, Marion and Kirk, Judy and Cohn, David and Hurteau, Jean and Byron, John and Fiorica, James and Toland, Amanda E. and Montagna, Marco and Oliani, Cristina and Imyanitov, Evgeny and Isaacs, Claudine and Tihomirova, Laima and Blanco, Ignacio and Lazaro, Conxi and Teul{\´e}, Alex and Del Valle, J. and Gayther, Simon A. and Odunsi, Kunle and Gross, Jenny and Karlan, Beth Y. and Olah, Edith and Teo, Soo-Hwang and Ganz, Patricia A. and Beattie, Mary S. and Dorfling, Cecelia M. and Jansen van Rensburg, Elizabeth and Diez, Orland and Kwong, Ava and Schmutzler, Rita K. and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Ditsch, Nina and Arnold, Norbert and Heidemann, Simone and Niederacher, Dieter and Preisler-Adams, Sabine and Gadzicki, Dorothea and Varon-Mateeva, Raymonda and Deissler, Helmut and Gehrig, Andrea and Sutter, Christian and Kast, Karin and Fiebig, Britta and Sch{\"a}fer, Dieter and Caldes, Trinidad and de la Hoya, Miguel and Nevanlinna, Heli and Muranen, Taru A. and Lesp{\´e}rance, Bernard and Spurdle, Amanda B. and Neuhausen, Susan L. and Ding, Yuan C. and Wang, Xianshu and Fredericksen, Zachary and Pankratz, Vernon S. and Lindor, Noralane M. and Peterlongo, Paulo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Bonanni, Bernardo and Bernard, Loris and Dolcetti, Riccardo and Papi, Laura and Ottini, Laura and Radice, Paolo and Greene, Mark H. and Loud, Jennifer T. and Andrulis, Irene L. and Ozcelik, Hilmi and Mulligan, Anna Marie and Glendon, Gord and Thomassen, Mads and Gerdes, Anne-Marie and Jensen, Uffe B. and Skytte, Anne-Bine and Kruse, Torben A. and Chenevix-Trench, Georgia and Couch, Fergus J. and Simard, Jacques and Easton, Douglas F.},
  title     = {Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers},
  series = {Breast Cancer Research},
  volume    = {14},
  journal   = {Breast Cancer Research},
  number    = {R33},
  organization    = {CIMBA; SWE-BRCA; HEBON; EMBRACE; GEMO Study Collaborators; kConFab Investigators},
  doi       = {10.1186/bcr3121},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-130449},
  year      = {2012},
  abstract  = {Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95\% CI: 0.81 to 0.94, P-trend = 3 x 10\(^{-4}\)). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95\% CI: 0.74 to 0.90, P-trend = 3.1 x 10\(^{-5}\), P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df P = 0.007; rs1292011 2df P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95\% CI: 0.74 to 0.90, P-trend = 4 x 10\(^{-5}\)) and there was marginal evidence of association with ER- negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95\% CI: 0.62 to 1.00, P-trend = 0.049). Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.},
  language  = {en}
}
@article{EckardtStasikKrameretal.2021,
  author    = {Eckardt, Jan-Niklas and Stasik, Sebastian and Kramer, Michael and R{\"o}llig, Christoph and Kr{\"a}mer, Alwin and Scholl, Sebastian and Hochhaus, Andreas and Crysandt, Martina and Br{\"u}mmendorf, Tim H. and Naumann, Ralph and Steffen, Bj{\"o}rn and Kunzmann, Volker and Einsele, Hermann and Schaich, Markus and Burchert, Andreas and Neubauer, Andreas and Sch{\"a}fer-Eckart, Kerstin and Schliemann, Christoph and Krause, Stefan W. and Herbst, Regina and H{\"a}nel, Mathias and Frickhofen, Norbert and Noppeney, Richard and Kaiser, Ulrich and Baldus, Claudia D. and Kaufmann, Martin and R{\´a}cil, Zdenek and Platzbecker, Uwe and Berdel, Wolfgang E. and Mayer, Jiř{\´i} and Serve, Hubert and M{\"u}ller-Tidow, Carsten and Ehninger, Gerhard and St{\"o}lzel, Friedrich and Kroschinsky, Frank and Schetelig, Johannes and Bornh{\"a}user, Martin and Thiede, Christian and Middeke, Jan Moritz},
  title     = {Loss-of-function mutations of BCOR are an independent marker of adverse outcomes in intensively treated patients with acute myeloid leukemia},
  series = {Cancers},
  volume    = {13},
  journal   = {Cancers},
  number    = {9},
  issn      = {2072-6694},
  doi       = {10.3390/cancers13092095},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-236735},
  year      = {2021},
  abstract  = {Acute myeloid leukemia (AML) is characterized by recurrent genetic events. The BCL6 corepressor (BCOR) and its homolog, the BCL6 corepressor-like 1 (BCORL1), have been reported to be rare but recurrent mutations in AML. Previously, smaller studies have reported conflicting results regarding impacts on outcomes. Here, we retrospectively analyzed a large cohort of 1529 patients with newly diagnosed and intensively treated AML. BCOR and BCORL1 mutations were found in 71 (4.6\%) and 53 patients (3.5\%), respectively. Frequently co-mutated genes were DNTM3A, TET2 and RUNX1. Mutated BCORL1 and loss-of-function mutations of BCOR were significantly more common in the ELN2017 intermediate-risk group. Patients harboring loss-of-function mutations of BCOR had a significantly reduced median event-free survival (HR = 1.464 (95\%-Confidence Interval (CI): 1.005-2.134), p = 0.047), relapse-free survival (HR = 1.904 (95\%-CI: 1.163-3.117), p = 0.01), and trend for reduced overall survival (HR = 1.495 (95\%-CI: 0.990-2.258), p = 0.056) in multivariable analysis. Our study establishes a novel role for loss-of-function mutations of BCOR regarding risk stratification in AML, which may influence treatment allocation.},
  language  = {en}
}
@article{AlepeeBahinskiDaneshianetal.2014,
  author    = {Alepee, Natalie and Bahinski, Anthony and Daneshian, Mardas and De Weyer, Bart and Fritsche, Ellen and Goldberg, Alan and Hansmann, Jan and Hartung, Thomas and Haycock, John and Hogberg, Helena T. and Hoelting, Lisa and Kelm, Jens M. and Kadereit, Suzanne and McVey, Emily and Landsiedel, Robert and Leist, Marcel and L{\"u}bberstedt, Marc and Noor, Fozia and Pellevoisin, Christian and Petersohn, Dirk and Pfannenbecker, Uwe and Reisinger, Kerstin and Ramirez, Tzutzuy and Rothen-Rutishauser, Barbara and Sch{\"a}fer-Korting, Monika and Zeilinger, Katrin and Zurich, Marie-Gabriele},
  title     = {State-of-the-Art of 3D Cultures (Organs-on-a-Chip) in Safety Testing and Pathophysiology},
  series = {ALTEX - Alternatives to Animal Experimentation},
  volume    = {31},
  journal   = {ALTEX - Alternatives to Animal Experimentation},
  number    = {4},
  doi       = {2014; http://dx.doi.org/10.14573/altex1406111},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-117826},
  pages     = {441-477},
  year      = {2014},
  abstract  = {Integrated approaches using different in vitro methods in combination with bioinformatics can (i) increase the success rate and speed of drug development; (ii) improve the accuracy of toxicological risk assessment; and (iii) increase our understanding of disease. Three-dimensional (3D) cell culture models are important building blocks of this strategy which has emerged during the last years. The majority of these models are organotypic, i.e., they aim to reproduce major functions of an organ or organ system. This implies in many cases that more than one cell type forms the 3D structure, and often matrix elements play an important role. This review summarizes the state of the art concerning commonalities of the different models. For instance, the theory of mass transport/metabolite exchange in 3D systems and the special analytical requirements for test endpoints in organotypic cultures are discussed in detail. In the next part, 3D model systems for selected organs liver, lung, skin, brain are presented and characterized in dedicated chapters. Also, 3D approaches to the modeling of tumors are presented and discussed. All chapters give a historical background, illustrate the large variety of approaches, and highlight up- and downsides as well as specific requirements. Moreover, they refer to the application in disease modeling, drug discovery and safety assessment. Finally, consensus recommendations indicate a roadmap for the successful implementation of 3D models in routine screening. It is expected that the use of such models will accelerate progress by reducing error rates and wrong predictions from compound testing.},
  language  = {en}
}
@phdthesis{Schaefer2005,
  author    = {Sch{\"a}fer, Jan},
  title     = {Die klinische Relevanz des optokinetischen Afternystagmus in der Schwindeldiagnostik},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-17927},
  school      = {Universit{\"a}t W{\"u}rzburg},
  year      = {2005},
  abstract  = {In der vorliegenden Arbeit sind 200 unausgelesene Patienten der neurootologischen Abteilung der Universit{\"a}tsklinik und - poliklinik f{\"u}r Hals-, Nasen- und Ohrenkranke in W{\"u}rzburg untersucht worden. Neben den bew{\"a}hrten {\"a}quilibriometrischen Untersuchungsmethoden wie z.B. kalorische Vestibularispr{\"u}fung (Schmetterlingskalorigramm) und rotatorischer Intensit{\"a}tsd{\"a}mpfungstest (RIDT) wurden die Patienten auch einer optokinetischen Untersuchung unterzogen und dabei der optokinetische Afternystagmus bestimmt. Hierbei wird an unserer Klinik die programmierbare Drehstuhlmethode angewendet, die sich durch eine Umkehr der Bezugssysteme, der Patient wird hier gegen seine Umwelt gedreht, von der weitverbreiteten Trommelmethode unterscheidet. Zun{\"a}chst wurden Durchschnittswerte f{\"u}r das gesamte Kollektiv ermittelt. Es fielen keine aussagekr{\"a}ftigen Parameter auf; wie zu erwarten stellten sich die Afternystagmus-Frequenzen in Drehrichtung gegen{\"u}ber denen in Gegenrichtung erh{\"o}ht dar. Anschließend wurden Untergruppierungen gebildet um Bez{\"u}ge zwischen Afternystagmusreaktion und Schwindelanamnese nachzuweisen. Die Patienten wurden hinsichtlich des Alters, des Geschlechtes, und des kalorischen Hemmungsverhaltens selektiert. Des weiteren wurden Unterkollektive verschiedener vegetativer Symptome, des vestibul{\"a}ren-Reiz-Reaktionsst{\"a}rke-Versuchs (VRRSV) und einzelner optokinetischer Untersuchungen gebildet. Es zeigte sich, dass die optokinetische Afternystagmusfrequenz im m{\"a}nnlichen Kollektiv geringf{\"u}gig gegen{\"u}ber der des weiblichen Kollektives erh{\"o}ht war. In den verschiedenen Altersgruppen nimmt die optokinetische Afternystagmusfrequenz in Drehrichtung mit dem Alter tendenziell ab; um geschlechtsspezifische altersabh{\"a}ngige Tendenzen zu untersuchen wurden entsprechende weitere Untergruppen gebildet. Auch hier konnte eine geringe Frequenzabnahme mit dem Alter, in der weiblichen Untersuchungsgruppe deutlicher als in der m{\"a}nnlichen, festgestellt werden. Bei der Untersuchung der einzelnen Kalorik-Patientengruppen ergaben sich f{\"u}r die Gruppe der zentral gest{\"o}rten Patienten eine tendenziell erh{\"o}hte optokinetische Afternystagmusfrequenz, welche deutlicher bei der Afternystagmusreaktion in Drehrichtung darzustellen war. Die Patienten mit einer „Schweißausbruch"-Anamnese wiesen im Kollektiv der Patienten mit vegetativen Symptomen die h{\"o}chste optokinetische Afternystagmusfrequenz auf. Im VRRSV konnte keine Tendenz erkannt werden, erh{\"o}hte Werte im Kollektiv „recruitment" lassen keine schl{\"u}ssige Aussage zu. Auch die nach verschieden stark ausfallender optokinetische Afternystagmusreaktion selektierten Patienten ließen keine deutliche Aussage {\"u}ber Zusammenh{\"a}nge in der Schwindelanamnese im Vergleich zum Gesamtkollektiv zu. Eine statistisch signifikante Absicherung war in keinem der F{\"a}lle m{\"o}glich. Als typische Beispiele werden Einzelf{\"a}lle in einer Kasuistik demonstriert. In der Diskussion werden die gewonnenen Ergebnisse mit Literaturwerten verglichen. Eine herausragende klinische Relevanz des Untersuchungsparameters „optokinetischer Afternystagmus" konnte hierbei nicht ermittelt werden. Im Einzelfall stellt die Afternystagmuspr{\"u}fung, insbesondere bei der Differenzierung vestibul{\"a}rer Seitendifferenzen und Hyperreaktionen jedoch sicherlich eine interessante Untersuchungsmethode dar.},
  language  = {de}
}
@article{BonigKuciKucietal.2019,
  author    = {Bonig, Halvard and Ku{\c{c}}i, Zyrafete and Ku{\c{c}}i, Selim and Bakhtiar, Shahrzad and Basu, Oliver and Bug, Gesine and Dennis, Mike and Greil, Johann and Barta, Aniko and K{\´a}llay, Kriszti{\´a}n M. and Lang, Peter and Lucchini, Giovanna and Pol, Raj and Schulz, Ansgar and Sykora, Karl-Walter and Teichert von Luettichau, Irene and Herter-Sprie, Grit and Ashab Uddin, Mohammad and Jenkin, Phil and Alsultan, Abdulrahman and Buechner, Jochen and Stein, Jerry and Kelemen, Agnes and Jarisch, Andrea and Soerensen, Jan and Salzmann-Manrique, Emilia and Hutter, Martin and Sch{\"a}fer, Richard and Seifried, Erhard and Paneesha, Shankara and Novitzky-Basso, Igor and Gefen, Aharon and Nevo, Neta and Beutel, Gernot and Schlegel, Paul-Gerhardt and Klingebiel, Thomas and Bader, Peter},
  title     = {Children and adults with Refractory acute Graft-versus-Host Disease respond to treatment with the Mesenchymal Stromal cell preparation "MSC-FFM"—Outcome report of 92 patients},
  series = {Cells},
  volume    = {8},
  journal   = {Cells},
  number    = {12},
  issn      = {2073-4409},
  doi       = {10.3390/cells8121577},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-193878},
  pages     = {1577},
  year      = {2019},
  abstract  = {(1) Background: Refractory acute graft-versus-host disease (R-aGvHD) remains a leading cause of death after allogeneic stem cell transplantation. Survival rates of 15\% after four years are currently achieved; deaths are only in part due to aGvHD itself, but mostly due to adverse effects of R-aGvHD treatment with immunosuppressive agents as these predispose patients to opportunistic infections and loss of graft-versus-leukemia surveillance resulting in relapse. Mesenchymal stromal cells (MSC) from different tissues and those generated by various protocols have been proposed as a remedy for R-aGvHD but the enthusiasm raised by initial reports has not been ubiquitously reproduced. (2) Methods: We previously reported on a unique MSC product, which was generated from pooled bone marrow mononuclear cells of multiple third-party donors. The products showed dose-to-dose equipotency and greater immunosuppressive capacity than individually expanded MSCs from the same donors. This product, MSC-FFM, has entered clinical routine in Germany where it is licensed with a national hospital exemption authorization. We previously reported satisfying initial clinical outcomes, which we are now updating. The data were collected in our post-approval pharmacovigilance program, i.e., this is not a clinical study and the data is high-level and non-monitored. (3) Results: Follow-up for 92 recipients of MSC-FFM was reported, 88 with GvHD ≥°III, one-third only steroid-refractory and two-thirds therapy resistant (refractory to steroids plus ≥2 additional lines of treatment). A median of three doses of MSC-FFM was administered without apparent toxicity. Overall response rates were 82\% and 81\% at the first and last evaluation, respectively. At six months, the estimated overall survival was 64\%, while the cumulative incidence of death from underlying disease was 3\%. (4) Conclusions: MSC-FFM promises to be a safe and efficient treatment for severe R-aGvHD.},
  language  = {en}
}