未登录 Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1 氨基己二酸半醛合成酶，戊二酸尿症I型的底物减少疗法潜在靶点 Saad, Celine; Jung-Klawitter, Sabine; Dimitrov, Bianca; Aguilar-Pimentel, Juan Antonio; Becker, Lore; da Silva-Buttkus, Patricia; Dragano, Nathalia R. V.; Garrett, Lillian; Holter, Sabine M.; Rathkolb, Birgit; Sanz-Moreno, Adrian; Spielmann, Nadine; Fuchs, Helmut; Gailus-Durner, Valerie; Schaaf, Christian P.; la Marca, Giancarlo; Damiano, Roberta; Lefeber, Dirk J.; Engelke, Udo; de Angelis, Martin Hrabe; Houten, Sander M.; Kolker, Stefan 分享 收藏
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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
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
Opa1 processing is dispensable in mouse development but is protective in mitochondrial cardiomyopathy Ahola, Sofia; Pazurek, Lilli A.; Mayer, Fiona; Lampe, Philipp; Hermans, Steffen; Becker, Lore; Amarie, Oana, V; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Riedel, Dietmar; Nolte, Hendrik; Langer, Thomas 分享 收藏
Comparative Phenotyping of Mice Reveals Canonical and Noncanonical Physiological Functions of TRα and TRβ Hoenes, Georg Sebastian; Geist, Daniela; Wenzek, Christina; Pfluger, Paul Thomas; Mueller, Timo Dirk; Aguilar-Pimentel, Juan Antonio; Amarie, Oana Veronica; Becker, Lore; Dragano, Natalia; Garrett, Lillian; Hoelter, Sabine Maria; Rathkolb, Birgit; Rozman, Jan; Spielmann, Nadine; Treise, Irina; Wolf, Eckhard; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Fuehrer, Dagmar; Moeller, Lars Christian 分享 收藏
A brain-enriched circular RNA controls excitatory neurotransmission and restricts sensitivity to aversive stimuli Giusti, Sebastian A.; Pino, Natalia S.; Pannunzio, Camila; Ogando, Mora B.; Armando, Natalia G.; Garrett, Lillian; Zimprich, Annemarie; Becker, Lore; Gimeno, Maria L.; Lukin, Jeronimo; Merino, Florencia L.; Pardi, M. Belen; Pedroncini, Olivia; Di Mauro, Giuliana C.; Durner, Valerie Gailus; Fuchs, Helmut; de Angelis, Martin Hrabe; Patop, Ines L.; Turck, Christoph W.; Deussing, Jan M.; Weisenhorn, Daniela M. Vogt; Jahn, Olaf; Kadener, Sebastian; Hoelter, Sabine M.; Brose, Nils; Giesert, Florian; Wurst, Wolfgang; Marin-Burgin, Antonia; Refojo, Damian 分享 收藏
A patient-enriched MEIS1 coding variant causes a restless legs syndrome-like phenotype in mice Leu, Chia-Luen; Lam, Daniel D.; Salminen, Aaro, V; Wefers, Benedikt; Becker, Lore; Garrett, Lillian; Rozman, Jan; Wurst, Wolfgang; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Winkelmann, Juliane; Williams, Rhiannan H. 分享 收藏
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R. 分享 收藏
Deletion of SERF2 in mice delays embryonic development and alters amyloid deposit structure in the brain Stroo, Esther; Janssen, Leen; Sin, Olga; Hogewerf, Wytse; Koster, Mirjam; Harkema, Liesbeth; Youssef, Sameh A.; Beschorner, Natalie; Wolters, Anouk H. G.; Bakker, Bjorn; Becker, Lore; Garrett, Lilian; Marschall, Susan; Hoelter, Sabine M.; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Thathiah, Amanth; Foijer, Floris; van de Sluis, Bart; van Deursen, Jan; Jucker, Matthias; de Brun, Alain; Nollen, Ellen A. A. 分享 收藏
Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome Maity-Kumar, Gandhari; Staender, Lisa; DeAngelis, Meri; Lee, Sooyeon; Molenaar, Anna; Becker, Lore; Garrett, Lillian; Amerie, Oana, V; Hoelter, Sabine M.; Wurst, Wolfgang; Fuchs, Helmut; Feuchtinger, Annette; Gailus-Durner, Valerie; Garcia-Caceres, Cristina; Othman, Ahmed E.; Brockmann, Caroline; Schoeffling, Vanessa, I; Beiser, Katja; Krude, Heiko; Mroz, Piotr A.; Hofmann, Susanna; Tuckermann, Jan; DiMarchi, Richard D.; de Angelis, Martin Hrabe; Tschoep, Matthias H.; Pfluger, Paul T.; Mueller, Timo D. 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
Dietary intervention improves health metrics and life expectancy of the genetically obese Titan mouse Muller-Eigner, Annika; Sanz-Moreno, Adrian; de-Diego, Irene; Venkatasubramani, Anuroop Venkateswaran; Langhammer, Martina; Gerlini, Raffaele; Rathkolb, Birgit; Aguilar-Pimentel, Antonio; Klein-Rodewald, Tanja; Calzada-Wack, Julia; Becker, Lore; Palma-Vera, Sergio; Gille, Benedikt; Forne, Ignasi; Imhof, Axel; Meng, Chen; Ludwig, Christina; Koch, Franziska; Heiker, John T.; Kuhla, Angela; Caton, Vanessa; Brenmoehl, Julia; Reyer, Henry; Schoen, Jennifer; Fuchs, Helmut; Gailus-Durner, Valerie; Hoeflich, Andreas; de Angelis, Martin Hrabe; Peleg, Shahaf 分享 收藏
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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
N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue N471D WASH复合物亚基弦蛋白敲入小鼠在脑组织中显示出轻度的运动和心脏异常以及BPTF和KLHL11失调 Clemen, Christoph S.; Schmidt, Andreas; Winter, Lilli; Canneva, Fabio; Wittig, Ilka; Becker, Lore; Coras, Roland; Berwanger, Carolin; Hofmann, Andreas; Eggers, Britta; Marcus, Katrin; Gailus-Durner, Valerie; Fuchs, Helmut; de Angelis, Martin Hrabe; Kruger, Marcus; von Horsten, Stephan; Eichinger, Ludwig; Schroder, Rolf 分享 收藏
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