Zobrazeno 1 - 10
of 107
pro vyhledávání: '"Andreas Rump"'
Autor:
Cansu Cimen, Janina Noster, Yvonne Stelzer, Andreas Rump, Janko Sattler, Matthijs Berends, Andreas Voss, Axel Hamprecht
Publikováno v:
One Health, Vol 17, Iss , Pp 100606- (2023)
The emergence of extended-spectrum β-lactamase and carbapenemase-producing Enterobacterales (ESBL-E and CPE, respectively) is a threat to modern medicine, as infections become increasingly difficult to treat. These bacteria have been detected in aqu
Externí odkaz:
https://doaj.org/article/96db19af7fca45a88ec9d90c5b01a11e
Autor:
Julika Borde, Yael Laitman, Britta Blümcke, Dieter Niederacher, Konstantin Weber-Lassalle, Christian Sutter, Andreas Rump, Norbert Arnold, Shan Wang-Gohrke, Judit Horváth, Andrea Gehrig, Gunnar Schmidt, Véronique Dutrannoy, Juliane Ramser, Julia Hentschel, Alfons Meindl, Christopher Schroeder, Barbara Wappenschmidt, Christoph Engel, Karoline Kuchenbaecker, Rita K. Schmutzler, Eitan Friedman, Eric Hahnen, Corinna Ernst
Publikováno v:
BMC Cancer, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Clinical management of women carrying a germline pathogenic variant (PV) in the BRCA1/2 genes demands for accurate age-dependent estimators of breast cancer (BC) risks, which were found to be affected by a variety of intrinsic and
Externí odkaz:
https://doaj.org/article/d015c012069441ee82eb7df529d64307
Autor:
Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new
Externí odkaz:
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52
Autor:
Muriel Rolfes, Julika Borde, Kathrin Möllenhoff, Mohamad Kayali, Corinna Ernst, Andrea Gehrig, Christian Sutter, Juliane Ramser, Dieter Niederacher, Judit Horváth, Norbert Arnold, Alfons Meindl, Bernd Auber, Andreas Rump, Shan Wang-Gohrke, Julia Ritter, Julia Hentschel, Holger Thiele, Janine Altmüller, Peter Nürnberg, Kerstin Rhiem, Christoph Engel, Barbara Wappenschmidt, Rita K. Schmutzler, Eric Hahnen, Jan Hauke
Publikováno v:
Cancers, Vol 14, Iss 13, p 3292 (2022)
Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective multicenter study, we investigated the prevalence o
Externí odkaz:
https://doaj.org/article/0ceb35ffabcf458e8aa13b45efcc0b3f
Autor:
Leo Ruhnke, Friedrich Stölzel, Lisa Wagenführ, Heidi Altmann, Uwe Platzbecker, Sylvia Herold, Andreas Rump, Evelin Schröck, Martin Bornhäuser, Johannes Schetelig, Malte von Bonin
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Patients with acute promyelocytic leukemia (APL) often present with potentially life-threatening hemorrhagic diathesis. The underlying pathomechanisms of APL-associated coagulopathy are complex. However, two pathways considered to be APL-specific had
Externí odkaz:
https://doaj.org/article/0d923277b4324c4dbda9c28b3cf48f87
Autor:
Falk Zakrzewski, Laura Gieldon, Andreas Rump, Michael Seifert, Konrad Grützmann, Alexander Krüger, Sina Loos, Silke Zeugner, Karl Hackmann, Joseph Porrmann, Johannes Wagner, Karin Kast, Pauline Wimberger, Gustavo Baretton, Evelin Schröck, Daniela Aust, Barbara Klink
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-15 (2019)
Abstract Background With the introduction of Olaparib treatment for BRCA-deficient recurrent ovarian cancer, testing for somatic and/or germline mutations in BRCA1/2 genes in tumor tissues became essential for treatment decisions. In most cases only
Externí odkaz:
https://doaj.org/article/5ba4919a6cad4c16b918feb19fd5403a
Autor:
Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling
Externí odkaz:
https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d
Autor:
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0239959 (2020)
[This corrects the article DOI: 10.1371/journal.pone.0201041.].
Externí odkaz:
https://doaj.org/article/67aa0983cabd4e0a8b95788e0c4e8afb
Autor:
Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert, Johannes R Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schrock, Nataliya Di Donato, Andreas Rump
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0201041 (2018)
Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a par
Externí odkaz:
https://doaj.org/article/4a93d15dae9a40be9bf34e6c0eeb5248
Autor:
Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele, Karin Kast, Pauline Wimberger, Elke Holinski-Feder, Steffen Emmert, Evelin Schröck, Barbara Klink
Publikováno v:
PLoS Genetics, Vol 12, Iss 8, p e1006248 (2016)
The increasing application of gene panels for familial cancer susceptibility disorders will probably lead to an increased proposal of susceptibility gene candidates. Using ERCC2 DNA repair gene as an example, we show that proof of a possible role in
Externí odkaz:
https://doaj.org/article/83403414084b4f70a80d691c919fb0d8