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Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita Ten1在小鼠中的缺失诱导端粒缩短，并模拟人类先天性角化不良 Sanz-Moreno, Adrian; Becker, Lore; Xie, Kan; da Silva-Buttkus, Patricia; Dragano, Nathalia R. V.; Aguilar-Pimentel, Antonio; Amarie, Oana V.; Calzada-Wack, Julia; Kraiger, Markus; Leuchtenberger, Stefanie; Seisenberger, Claudia; Marschall, Susan; Rathkolb, Birgit; Scifo, Enzo; Liu, Ting; Thanabalasingam, Anoja; Sanchez-Vazquez, Raul; Martinez, Paula; Blasco, Maria A.; Savage, Sharon A.; Fuchs, Helmut; Ehninger, Dan; Gailus-Durner, Valerie 分享 收藏
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse 由于ALDH7A1缺乏引起的吡哆醇依赖性癫痫的新疗法：小鼠中上游酶抑制的首个原理验证 van Karnebeek, Clara D. M.; Gailus-Durner, Valerie; Engelke, Udo F.; Seisenberger, Claudia; Marschall, Susan; Dragano, Nathalia R., V; da Silva-Buttkus, Patricia; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabe de Angelis, Martin; Wevers, Ron A.; Coughlin, Curtis R.; Lefeber, Dirk J. 分享 收藏
X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomes Hasenbein, Tim P.; Hoelzl, Sarah; Smith, Zachary D.; Gerhardinger, Chiara; Gonner, Marion O. C.; Aguilar-Pimentel, Antonio; Amarie, Oana V.; Becker, Lore; Calzada-Wack, Julia; Dragano, Nathalia R. V.; da Silva-Buttkus, Patricia; Garrett, Lillian; Hoelter, Sabine M.; Kraiger, Markus; Oestereicher, Manuela A.; Rathkolb, Birgit; Sanz-Moreno, Adrian; Spielmann, Nadine; Wurst, Wolfgang; Gailus-Durner, Valerie; Fuchs, Helmut; de Angelis, Martin Hrabe; Meissner, Alexander; Engelhardt, Stefan; Rinn, John L.; Andergassen, Daniel 分享 收藏
Examining the liver-pancreas crosstalk reveals a role for the molybdenum cofactor in β-cell regeneration Karampelias, Christos; Batoiu, Bianca; Rathkolb, Birgit; da Silva-Buttkus, Patricia; Bachar-Wikstrom, Etty; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; Chu, Lianhe; de Angelis, Martin Hrabe; Andersson, Olov 分享 收藏
Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice Xie, Kan; Fuchs, Helmut; Scifo, Enzo; Liu, Dan; Aziz, Ahmad; Aguilar-Pimentel, Juan Antonio; Amarie, Oana Veronica; Becker, Lore; da Silva-Buttkus, Patricia; Calzada-Wack, Julia; Cho, Yi-Li; Deng, Yushuang; Edwards, A. Cole; Garrett, Lillian; Georgopoulou, Christina; Gerlini, Raffaele; Hoelter, Sabine M.; Klein-Rodewald, Tanja; Kramer, Michael; Leuchtenberger, Stefanie; Lountzi, Dimitra; Mayer-Kuckuk, Phillip; Nover, Lena L.; Oestereicher, Manuela A.; Overkott, Clemens; Pearson, Brandon L.; Rathkolb, Birgit; Rozman, Jan; Russ, Jenny; Schaaf, Kristina; Spielmann, Nadine; Sanz-Moreno, Adrian; Stoeger, Claudia; Treise, Irina; Bano, Daniele; Busch, Dirk H.; Graw, Jochen; Klingenspor, Martin; Klopstock, Thomas; Mock, Beverly A.; Salomoni, Paolo; Schmidt-Weber, Carsten; Weiergraber, Marco; Wolf, Eckhard; Wurst, Wolfgang; Gailus-Durner, Valerie; Breteler, Monique M. B.; Hrabe de Angelis, Martin; Ehninger, Dan 分享 收藏
Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk Garrett, Lillian; Da Silva-Buttkus, Patricia; Rathkolb, Birgit; Gerlini, Raffaele; Becker, Lore; Sanz-Moreno, Adrian; Seisenberger, Claudia; Zimprich, Annemarie; Aguilar-Pimentel, Antonio; Amarie, Oana, V; Cho, Yi-Li; Kraiger, Markus; Spielmann, Nadine; Calzada-Wack, Julia; Marschall, Susan; Busch, Dirk; Schmitt-Weber, Carsten; Wolf, Eckhard; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Hoelter, Sabine M.; de Angelis, Martin Hrabe 分享 收藏
Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy Spielmann, Nadine; Miller, Gregor; Oprea, Tudor I.; Hsu, Chih-Wei; Fobo, Gisela; Frishman, Goar; Montrone, Corinna; Haseli Mashhadi, Hamed; Mason, Jeremy; Munoz Fuentes, Violeta; Leuchtenberger, Stefanie; Ruepp, Andreas; Wagner, Matias; Westphal, Dominik S.; Wolf, Cordula; Goerlach, Agnes; Sanz-Moreno, Adrian; Cho, Yi-Li; Teperino, Raffaele; Brandmaier, Stefan; Sharma, Sapna; Galter, Isabella Rikarda; Oestereicher, Manuela A.; Zapf, Lilly; Mayer-Kuckuk, Philipp; Rozman, Jan; Teboul, Lydia; Bunton-Stasyshyn, Rosie K. A.; Cater, Heather; Stewart, Michelle; Christou, Skevoulla; Westerberg, Henrik; Willett, Amelia M.; Wotton, Janine M.; Roper, Willson B.; Christiansen, Audrey E.; Ward, Christopher S.; Heaney, Jason D.; Reynolds, Corey L.; Prochazka, Jan; Bower, Lynette; Clary, David; Selloum, Mohammed; Bou About, Ghina; Wendling, Olivia; Jacobs, Hugues; Leblanc, Sophie; Meziane, Hamid; Sorg, Tania; Audain, Enrique; Gilly, Arthur; Rayner, Nigel W.; Aguilar-Pimentel, Juan A.; Becker, Lore; Garrett, Lillian; Hoelter, Sabine M.; Amarie, Oana V.; Calzada-Wack, Julia; Klein-Rodewald, Tanja; da Silva-Buttkus, Patricia; Lengger, Christoph; Stoeger, Claudia; Gerlini, Raffaele; Rathkolb, Birgit; Mayr, Daniela; Seavitt, John; Gaspero, Angelina; Green, Jennie R.; Garza, Arturo; Bohat, Ritu; Wong, Leeyean; Mcelwee, Melissa L.; Kalaga, Sowmya; Rasmussen, Tara L.; Lorenzo, Isabel; Lanza, Denise G.; Samaco, Rodney C.; Veeraragaven, Surabi; Gallegos, Juan J.; Kasparek, Petr; Petrezselyova, Silvia; King, Ruairidh; Johnson, Sara; Cleak, James; Szkoe-Kovacs, Zsombor; Codner, Gemma; Mackenzie, Matthew; Caulder, Adam; Kenyon, Janet; Gardiner, Wendy; Phelps, Hayley; Hancock, Rhys; Norris, Claire; Moore, Michayla A.; Seluke, Audrie M.; Urban, Rachel; Kane, Coleen; Goodwin, Leslie O.; Peterson, Kevin A.; Mckay, Matthew; Cook, Jenn J.; Lowy, Jacob P.; Mcfarland, Michael; Wood, Joshua A.; Willis, Brandon J.; Tolentino, Heather; Tolentino, Todd; Schuchbauer, Michael; Salazar, Jason; Johnson, Jennifer; Munson, Rebecca; Ayadi, Abdel; Pavlovic, Guillaume; Birling, Marie-Christine; Jacquot, Sylvie; Ali-Hadji, Dalila; Charles, Philippe; Andre, Philippe; Champy, Marie-France; Riet, Fabrice; Vukobradovic, Igor; Berberovic, Zorana; Qu, Dawei; Guo, Ruolin; D'Souza, Abigail; Huang, Ziyue; Camilleri, Susan; Ganguly, Milan; Adissu, Hibret; Eskandarian, Mohammed; Shang, Xueyuan; Duffin, Kyle; Xu, Catherine; Roberton, Kyle; Laurin, Valerie; Lan, Qing; Sleep, Gillian; Creighton, Amie; Lintott, Lauri; Gertsenstein, Marina; Pereira, Monica; Tondat, Sandra; Patel, Amit; Cruz, Maribelle; Bezginov, Alex; Miller, David; Hy, Wang; Yoshiki, Atsushi; Tanaka, Nobuhiko; Tamura, Masaru; Liu, Zhiwei; Ermakova, Olga; Ferrara, Anna; Fruscoloni, Paolo; Seisenberger, Claudia; Buerger, Antje; Giesert, Florian; Ambrose, J. C.; Gam, Arumu P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Caulfield, M. J.; Chan, G. C.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.; Jones, L. J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S. E. A.; Leong, I. U. S.; Lopez, F. J.; Maleady-Crowe, F.; Mcentagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A. C.; O'Donovan, P.; Odhams, C. A.; Patch, C.; Perez-Gil, D.; Pereira, M. B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R. H.; Siddiq, A.; Sieghart, A.; Smith, S. C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor-Tavares, A. L.; Thomas, E. R. A.; Thompson, S. R.; Tucci, A.; Welland, M. J.; Williams, E.; Witkowska, K.; Wood, S. M.; Hitz, Marc-Phillip; Zeggini, Eleftheria; Wolf, Eckhard; Sedlacek, Radislav; Murray, Steven A.; Svenson, Karen L.; Braun, Robert E.; White, Jaqueline K.; Kelsey, Lois; Gao, Xiang; Shiroishi, Toshihiko; Xu, Ying; Seong, Je Kyung; Mammano, Fabio; Tocchini-Valentini, Glauco P.; Beaudet, Arthur L.; Meehan, Terrence F.; Parkinson, Helen; Smedley, Damian; Mallon, Ann-Marie; Wells, Sara E.; Grallert, Harald; Wurst, Wolfgang; Marschall, Susan; Fuchs, Helmut; Brown, Steve D. M.; Flenniken, Ann M.; Nutter, Lauryl M. J.; Mckerlie, Colin; Herault, Yann; Lloyd, K. C. Kent; Dickinson, Mary E.; Gailus-Durner, Valerie; Hrabe de Angelis, Martin 分享 收藏
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E.; Meisterknecht, Jana; Aguilar-Pimentel, Juan Antonio; Amarie, Oana, V; Becker, Lore; Breen, Catherine; Calzada-Wack, Julia; Chhabra, Nirav F.; Cho, Yi-Li; da Silva-Buttkus, Patricia; Feichtinger, Rene G.; Gampe, Kristine; Garrett, Lillian; Hoefig, Kai P.; Hoelter, Sabine M.; Jameson, Elisabeth; Klein-Rodewald, Tanja; Leuchtenberger, Stefanie; Marschall, Susan; Mayer-Kuckuk, Philipp; Miller, Gregor; Oestereicher, Manuela A.; Pfannes, Kristina; Rathkolb, Birgit; Rozman, Jan; Sanders, Charlotte; Spielmann, Nadine; Stoeger, Claudia; Szibor, Marten; Treise, Irina; Walter, John H.; Wurst, Wolfgang; Mayr, Johannes A.; Fuchs, Helmut; Gaertner, Ulrich; Wittig, Ilka; Taylor, Robert W.; Newman, William G.; Prokisch, Holger; Gailus-Durner, Valerie; de Angelis, Martin Hrabe 分享 收藏
Creld1 regulates myocardial development and function Beckert, Vera; Rassmann, Sebastian; Kayvanjoo, Amir Hossein; Klausen, Christina; Bonaguro, Lorenzo; Botermann, Dominik Simon; Krause, Melanie; Moreth, Kristin; Spielmann, Nadine; da Silva-Buttkus, Patricia; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Haendler, Kristian; Ulas, Thomas; Aschenbrenner, Anna C.; Mass, Elvira; Wachten, Dagmar 分享 收藏
High STEAP1 expression is associated with improved outcome of Ewing's sarcoma patients Grunewald, T. G. P.; Ranft, A.; Esposito, I.; da Silva-Buttkus, P.; Aichler, M.; Baumhoer, D.; Schaefer, K. L.; Ottaviano, L.; Poremba, C.; Jundt, G.; Juergens, H.; Dirksen, U.; Richter, G. H. S.; Burdach, S. 分享 收藏
Origin of pancreatic ductal adenocarcinoma from atypical flat lesions: a comparative study in transgenic mice and human tissues Aichler, Michaela; Seiler, Christopher; Tost, Monica; Siveke, Jens; Mazur, Pawel K.; Da Silva-Buttkus, Patricia; Bartsch, Detlef K.; Langer, Peter; Chiblak, Sara; Duerr, Anna; Hoefler, Heinz; Kloeppel, Guenter; Mueller-Decker, Karin; Brielmeier, Markus; Esposito, Irene 分享 收藏
STEAP1 Is Associated with the Invasive and Oxidative Stress Phenotype of Ewing Tumors Grunewald, Thomas G. P.; Diebold, Isabel; Esposito, Irene; Plehm, Stephanie; Hauer, Kristina; Thiel, Uwe; da Silva-Buttkus, Patricia; Neff, Frauke; Unland, Rebekka; Mueller-Tidow, Carsten; Zobywalski, Colette; Lohrig, Katharina; Lewandrowski, Urs; Sickmann, Albert; da Costa, Olivia Prazeres; Goerlach, Agnes; Cossarizza, Andrea; Butt, Elke; Richter, Guenther H. S.; Burdach, Stefan 分享 收藏
Mouse phenotyping Fuchs, Helmut; Gailus-Durner, Valerie; Adler, Thure; Aguilar-Pimentel, Juan Antonio; Becker, Lore; Calzada-Wack, Julia; Da Silva-Buttkus, Patricia; Neff, Frauke; Goetz, Alexander; Hans, Wolfgang; Hoelter, Sabine M.; Horsch, Marion; Kastenmueller, Gabi; Kemter, Elisabeth; Lengger, Christoph; Maier, Holger; Matloka, Mikolaj; Moeller, Gabriele; Naton, Beatrix; Prehn, Cornelia; Puk, Oliver; Racz, Ildiko; Rathkolb, Birgit; Roemisch-Margl, Werner; Rozman, Jan; Wang-Sattler, Rui; Schrewe, Anja; Stoeger, Claudia; Tost, Monica; Adamski, Jerzy; Aigner, Bernhard; Beckers, Johannes; Behrendt, Heidrun; Busch, Dirk H.; Esposito, Irene; Graw, Jochen; Illig, Thomas; Ivandic, Boris; Klingenspor, Martin; Klopstock, Thomas; Kremmer, Elisabeth; Mempel, Martin; Neschen, Susanne; Ollert, Markus; Schulz, Holger; Suhre, Karsten; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; de Angelis, Martin Hrabe 分享 收藏
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Anti-Mullerian hormone protein expression is reduced during the initial stages of follicle development in human polycystic ovaries Stubbs, SA; Hardy, K; Da Silva-Buttkus, P; Stark, J; Webber, LJ; Flanagan, AM; Themmen, APN; Visser, JA; Groome, NP; Franks, S 分享 收藏
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