Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Stephanie Biber"'
Publikováno v:
Cell Death and Disease, Vol 12, Iss 10, Pp 1-14 (2021)
Abstract The recently discovered p53-dependent DNA damage tolerance (DDT) pathway relies on its biochemical activities in DNA-binding, oligomerization, as well as complex formation with the translesion synthesis (TLS) polymerase iota (POLι). These p
Externí odkaz:
https://doaj.org/article/c2ffa96a58b34f0bb8aa8a21cb59c600
Autor:
Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S. Krebs, Maxime Jan, Rita C. Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart, Eliane Roulet-Perez, Pascal Meylan, René Brouillet, Onya Opota, Leyder Lozano-Calderon, Florence Fellmann, Nicolas Guex, Vincent Zoete, Sandra Asner, Carlo Rivolta, Renaud Du Pasquier, Pierre-Yves Bochud
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Encephalitis is a rare and potentially fatal manifestation of herpes simplex type 1 infection. Following genome-wide genetic analyses, we identified a previously uncharacterized and very rare heterozygous variant in the E3 ubiquitin ligase W
Externí odkaz:
https://doaj.org/article/d87fb10f72004b578992242a02fb6927
Autor:
Hans A. Kestler, Alexander Kleger, Martin Wagner, Diane M. Simeone, Elodie Roger, Karolin Walter, Bruno Sainz, Johann Gout, Pierre Olivier Frappart, Martin Müller, Michaela Ihle, Thomas Seufferlein, André Lechel, Eva Rodriguez-Aznar, Katja Stifter, Johann M. Kraus, Sebastian Müller, Stefan Liebau, Stephanie Biber, Ninel Azoitei, Roland Rad, Mareen Morawe, Lisa Wiesmüller, Sebastian Lange, Andrea Zamperone, Patrick C. Hermann, Stephan A. Hahn, Elisabeth Hessmann, Lukas Perkhofer, Thomas Engleitner, Frank Arnold
Publikováno v:
Gut
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
© Author(s) (or their employer(s)) 2020.
[Objective]: ATM serine/threonine kinase (ATM) is the most frequently mutated DNA damage response gene, involved in homologous recombination (HR), in pancreatic ductal adenocarcinoma (PDAC).
[Design
[Objective]: ATM serine/threonine kinase (ATM) is the most frequently mutated DNA damage response gene, involved in homologous recombination (HR), in pancreatic ductal adenocarcinoma (PDAC).
[Design
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::724a94ff5a86a7b73ee13280108ec725
https://hdl.handle.net/20.500.14017/5e072fc0-a67f-44b2-9a32-ac27d436a2fe
https://hdl.handle.net/20.500.14017/5e072fc0-a67f-44b2-9a32-ac27d436a2fe
Autor:
Stephanie, Biber, Lisa, Wiesmüller
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2267
DNA replication is a fundamental process of life. Any perturbation of this process by endogenous or exogenous factors impacts on genomic stability and thereby on carcinogenesis. More recently, the replication machinery has been discovered as an inter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dd79cde2497a8bc943a91765baf11d0c
https://pubmed.ncbi.nlm.nih.gov/33786784
https://pubmed.ncbi.nlm.nih.gov/33786784
Autor:
Stephanie Biber, Lisa Wiesmüller
Publikováno v:
Cell Cycle Checkpoints ISBN: 9781071612163
DNA replication is a fundamental process of life. Any perturbation of this process by endogenous or exogenous factors impacts on genomic stability and thereby on carcinogenesis. More recently, the replication machinery has been discovered as an inter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14970ccb732dfbc56919237138d26dfd
https://doi.org/10.1007/978-1-0716-1217-0_4
https://doi.org/10.1007/978-1-0716-1217-0_4
Publikováno v:
Cell Death and Disease, Vol 12, Iss 10, Pp 1-14 (2021)
Cell Death & Disease
Cell Death & Disease
The recently discovered p53-dependent DNA damage tolerance (DDT) pathway relies on its biochemical activities in DNA-binding, oligomerization, as well as complex formation with the translesion synthesis (TLS) polymerase iota (POLι). These p53-POLι
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b28d43d97cd053c18689fd01e944fc75
Autor:
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), GenOMICC Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Daniel H Geschwind, Stephanie Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian Yaspan, Sandra Smieszek, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dabrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, J Brent Richards
Publikováno v:
PLoS Genetics, Vol 18, Iss 11, p e1010367 (2022)
Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the larg
Externí odkaz:
https://doaj.org/article/5f79e367675d482a9faf89902afbc030
Autor:
Stéphanie Bibert, Nicolas Guex, Joao Lourenco, Thomas Brahier, Matthaios Papadimitriou-Olivgeris, Lauro Damonti, Oriol Manuel, Robin Liechti, Lou Götz, Jonathan Tschopp, Mathieu Quinodoz, Peter Vollenweider, Jean-Luc Pagani, Mauro Oddo, Olivier Hügli, Frédéric Lamoth, Véronique Erard, Cathy Voide, Mauro Delorenzi, Nathalie Rufer, Fabio Candotti, Carlo Rivolta, Noémie Boillat-Blanco, Pierre-Yves Bochud, the RegCOVID Study Group, Bochud Pierre-Yves, Desgranges Florian, Filippidis Paraskevas, Guéry Benoit, Haefliger David, Kampouri Eleftheria-Evdokia, Manuel Oriol, Munting Aline, Pagani Jean-Luc, Papadimitriou-Olivgeris Matthaios, Regina Jean, Rochat-Stettler Laurence, Suttels Veronique, Tadini Eliana, Tschopp Jonathan, Van Singer Mathias, Viala Benjamin, Vollenweider Peter
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
The reason why most individuals with COVID-19 have relatively limited symptoms while other develop respiratory distress with life-threatening complications remains unknown. Increasing evidence suggests that COVID-19 associated adverse outcomes mainly
Externí odkaz:
https://doaj.org/article/031b1be15a7044fbb009c5558ae5426c
Autor:
Stéphanie Bibert, Jocelyne Piret, Mathieu Quinodoz, Emilie Collinet, Vincent Zoete, Olivier Michielin, Rafik Menasria, Pascal Meylan, Titus Bihl, Véronique Erard, Florence Fellmann, Carlo Rivolta, Guy Boivin, Pierre-Yves Bochud
Publikováno v:
PLoS Pathogens, Vol 15, Iss 12, p e1008168 (2019)
We report here two cases of Herpes simplex virus encephalitis (HSE) in adult patients with very rare, previously uncharacterized, non synonymous heterozygous G634R and R203W substitution in mannan-binding lectin serine protease 2 (MASP2), a gene enco
Externí odkaz:
https://doaj.org/article/8eb08935a2b741198b3c5cd16b7700b5
Autor:
Frédégonde About, Stéphanie Bibert, Emmanuelle Jouanguy, Bertrand Nalpas, Lazaro Lorenzo, Vimel Rattina, Mohammed Zarhrate, Sylvain Hanein, Mona Munteanu, Beat Müllhaupt, David Semela, Nasser Semmo, Jean-Laurent Casanova, Ioannis Theodorou, Philippe Sultanik, Thierry Poynard, Stanislas Pol, Pierre-Yves Bochud, Aurélie Cobat, Laurent Abel, The Swiss Hepatitis C Cohort Study Group, The French ANRS HC EP 26 Genoscan Study Group, Francesco Negro, Antoine Hadengue, Laurent Kaiser, Laura Rubbia-Brandt, Darius Moradpour, Cristina Cellerai, Martin Rickenbach, Andreas Cerny, Gladys Martinetti, Jean-François Dufour, Meri Gorgievski, Virginie Masserey Spicher, Markus Heim, Hans Hirsch, Beat Helbling, Stephan Regenass, Raffaele Malinverni, Guenter Dollenmaier, Gieri Cathomas
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Despite the astonishing progress in treating chronic hepatitis C virus (HCV) infection with direct-acting antiviral agents, liver fibrosis remains a major health concern in HCV infected patients, in particular due to the treatment cost and insufficie
Externí odkaz:
https://doaj.org/article/6902600e7fc6453da39b73b597e71e52