Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal model

por Kandaswamy, Surabhi, Zobel, Lena, John, Bina, Santhiya, Sathiyavedu Thyagarajan, Bogedein, Jacqueline, Przemeck, Gerhard K. H., Gailus-Durner, Valérie, Fuchs, Helmut, Biel, Martin, de Angelis, Martin Hrabĕ, Graw, Jochen, Michalakis, Stylianos, Amarie, Oana Veronica
Publicado 2022

Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction

por Spielmann, Nadine, Schenkl, Christina, Komlódi, Tímea, da Silva-Buttkus, Patricia, Heyne, Estelle, Rohde, Jana, Amarie, Oana V., Rathkolb, Birgit, Gnaiger, Erich, Doenst, Torsten, Fuchs, Helmut, Gailus-Durner, Valérie, de Angelis, Martin Hrabě, Szibor, Marten
Publicado 2022

Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction

por Milenkovic, Dusanka, Sanz-Moreno, Adrián, Calzada-Wack, Julia, Rathkolb, Birgit, Veronica Amarie, Oana, Gerlini, Raffaele, Aguilar-Pimentel, Antonio, Misic, Jelena, Simard, Marie-Lune, Wolf, Eckhard, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabě, Larsson, Nils-Göran
Publicado 2022

Dusp8 affects hippocampal size and behavior in mice and humans

por Baumann, Peter, Schriever, Sonja C., Kullmann, Stephanie, Zimprich, Annemarie, Feuchtinger, Annette, Amarie, Oana, Peter, Andreas, Walch, Axel, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Wurst, Wolfgang, Tschöp, Matthias H., Heni, Martin, Hölter, Sabine M., Pfluger, Paul T.
Publicado 2019

PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance

por Chhabra, Nirav Florian, Amarie, Oana Veronica, Wu, Moya, Amend, Anna-Lena, Rubey, Marina, Gradinger, Daniel, Irmler, Martin, Beckers, Johannes, Rathkolb, Birgit, Wolf, Eckhard, Feuchtinger, Annette, Huypens, Peter, Teperino, Raffaele, Rozman, Jan, Przemeck, Gerhard K. H., Hrabě de Angelis, Martin
Publicado 2020

Functional compensation among HMGN variants modulates the DNase I hypersensitive sites at enhancers

por Deng, Tao, Zhu, Z. Iris, Zhang, Shaofei, Postnikov, Yuri, Huang, Di, Horsch, Marion, Furusawa, Takashi, Beckers, Johannes, Rozman, Jan, Klingenspor, Martin, Amarie, Oana, Graw, Jochen, Rathkolb, Birgit, Wolf, Eckhard, Adler, Thure, Busch, Dirk H., Gailus-Durner, Valérie, Fuchs, Helmut, Hrabě de Angelis, Martin, van der Velde, Arjan, Tessarollo, Lino, Ovcherenko, Ivan, Landsman, David, Bustin, Michael
Publicado 2015

Knockout mouse models as a resource for the study of rare diseases

por da Silva-Buttkus, Patricia, Spielmann, Nadine, Klein-Rodewald, Tanja, Schütt, Christine, Aguilar-Pimentel, Antonio, Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Garrett, Lillian, Gerlini, Raffaele, Kraiger, Markus, Leuchtenberger, Stefanie, Östereicher, Manuela A., Rathkolb, Birgit, Sanz-Moreno, Adrián, Stöger, Claudia, Hölter, Sabine M., Seisenberger, Claudia, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabě de Angelis, Martin
Publicado 2023

Post-synaptic scaffold protein TANC2 in psychiatric and somatic disease risk

por 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, Hölter, Sabine M., Hrabě de Angelis, Martin
Publicado 2022

A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse

por Biagosch, Caroline A., Vidali, Silvia, Faerberboeck, Michael, Hensler, Svenja-Viola, Becker, Lore, Amarie, Oana V., Aguilar-Pimentel, Antonio, Garrett, Lillian, Klein-Rodewald, Tanja, Rathkolb, Birgit, Zanuttigh, Enrica, Calzada-Wack, Julia, da Silva-Buttkus, Patricia, Rozman, Jan, Treise, Irina, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabě, Janik, Dirk, Wurst, Wolfgang, Mayr, Johannes A., Klopstock, Thomas, Meitinger, Thomas, Prokisch, Holger, Iuso, Arcangela
Publicado 2021

Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data

por André, Viola, Gau, Christine, Scheideler, Angelika, Aguilar-Pimentel, Juan A., Amarie, Oana V., Becker, Lore, Garrett, Lillian, Hans, Wolfgang, Hölter, Sabine M., Janik, Dirk, Moreth, Kristin, Neff, Frauke, Östereicher, Manuela, Racz, Ildiko, Rathkolb, Birgit, Rozman, Jan, Bekeredjian, Raffi, Graw, Jochen, Klingenspor, Martin, Klopstock, Thomas, Ollert, Markus, Schmidt-Weber, Carsten, Wolf, Eckhard, Wurst, Wolfgang, Gailus-Durner, Valérie, Brielmeier, Markus, Fuchs, Helmut, Hrabé de Angelis, Martin
Publicado 2018

The rRNA m(6)A methyltransferase METTL5 is involved in pluripotency and developmental programs

por Ignatova, Valentina V., Stolz, Paul, Kaiser, Steffen, Gustafsson, Tobias H., Lastres, Palma Rico, Sanz-Moreno, Adrián, Cho, Yi-Li, Amarie, Oana V., Aguilar-Pimentel, Antonio, Klein-Rodewald, Tanja, Calzada-Wack, Julia, Becker, Lore, Marschall, Susan, Kraiger, Markus, Garrett, Lillian, Seisenberger, Claudia, Hölter, Sabine M., Borland, Kayla, Van De Logt, Erik, Jansen, Pascal W.T.C., Baltissen, Marijke P., Valenta, Magdalena, Vermeulen, Michiel, Wurst, Wolfgang, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabe de Angelis, Martin, Rando, Oliver J., Kellner, Stefanie M., Bultmann, Sebastian, Schneider, Robert
Publicado 2020

Every-other-day feeding extends lifespan but fails to delay many symptoms of aging in mice

por Xie, Kan, Neff, Frauke, Markert, Astrid, Rozman, Jan, Aguilar-Pimentel, Juan Antonio, Amarie, Oana Veronica, Becker, Lore, Brommage, Robert, Garrett, Lillian, Henzel, Kristin S., Hölter, Sabine M., Janik, Dirk, Lehmann, Isabelle, Moreth, Kristin, Pearson, Brandon L., Racz, Ildiko, Rathkolb, Birgit, Ryan, Devon P., Schröder, Susanne, Treise, Irina, Bekeredjian, Raffi, Busch, Dirk H., Graw, Jochen, Ehninger, Gerhard, Klingenspor, Martin, Klopstock, Thomas, Ollert, Markus, Sandholzer, Michael, Schmidt-Weber, Carsten, Weiergräber, Marco, Wolf, Eckhard, Wurst, Wolfgang, Zimmer, Andreas, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Ehninger, Dan
Publicado 2017

A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes

por Kollmus, Heike, Fuchs, Helmut, Lengger, Christoph, Haselimashhadi, Hamed, Bogue, Molly A., Östereicher, Manuela A., Horsch, Marion, Adler, Thure, Aguilar-Pimentel, Juan Antonio, Amarie, Oana Veronica, Becker, Lore, Beckers, Johannes, Calzada-Wack, Julia, Garrett, Lillian, Hans, Wolfgang, Hölter, Sabine M., Klein-Rodewald, Tanja, Maier, Holger, Mayer-Kuckuk, Philipp, Miller, Gregor, Moreth, Kristin, Neff, Frauke, Rathkolb, Birgit, Rácz, Ildikó, Rozman, Jan, Spielmann, Nadine, Treise, Irina, Busch, Dirk, Graw, Jochen, Klopstock, Thomas, Wolf, Eckhard, Wurst, Wolfgang, Yildirim, Ali Önder, Mason, Jeremy, Torres, Arturo, Balling, Rudi, Mehaan, Terry, Gailus-Durner, Valerie, Schughart, Klaus, Hrabě de Angelis, Martin
Publicado 2020

Single-cell, whole-embryo phenotyping of mammalian developmental disorders

por Huang, Xingfan, Henck, Jana, Qiu, Chengxiang, Sreenivasan, Varun K. A., Balachandran, Saranya, Amarie, Oana V., Hrabě de Angelis, Martin, Behncke, Rose Yinghan, Chan, Wing-Lee, Despang, Alexandra, Dickel, Diane E., Duran, Madeleine, Feuchtinger, Annette, Fuchs, Helmut, Gailus-Durner, Valerie, Haag, Natja, Hägerling, Rene, Hansmeier, Nils, Hennig, Friederike, Marshall, Cooper, Rajderkar, Sudha, Ringel, Alessa, Robson, Michael, Saunders, Lauren M., da Silva-Buttkus, Patricia, Spielmann, Nadine, Srivatsan, Sanjay R., Ulferts, Sascha, Wittler, Lars, Zhu, Yiwen, Kalscheuer, Vera M., Ibrahim, Daniel M., Kurth, Ingo, Kornak, Uwe, Visel, Axel, Pennacchio, Len A., Beier, David R., Trapnell, Cole, Cao, Junyue, Shendure, Jay, Spielmann, Malte
Publicado 2023

Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

por 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, René G, Gampe, Kristine, Garrett, Lillian, Hoefig, Kai P, Hölter, 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, Gärtner, Ulrich, Wittig, Ilka, Taylor, Robert W, Newman, William G, Prokisch, Holger, Gailus‐Durner, Valerie, Hrabě de Angelis, Martin
Publicado 2021

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

por Riedhammer, Korbinian M., Nguyen, Thanh-Minh T., Koşukcu, Can, Calzada-Wack, Julia, Li, Yong, Saygılı, Seha, Wimmers, Vera, Kim, Gwang-Jin, Chrysanthou, Marialena, Bakey, Zeineb, Kraiger, Markus, Sanz-Moreno, Adrián, Amarie, Oana V, Rathkolb, Birgit, Klein-Rodewald, Tanja, Garrett, Lillian, Hölter, Sabine M., Seisenberger, Claudia, Haug, Stefan, Marschall, Susan, Wurst, Wolfgang, Fuchs, Helmut, Gailus-Durner, Valerie, Wuttke, Matthias, de Angelis, Martin Hrabe, Ćomić, Jasmina, Doğan, Özlem Akgün, Özlük, Yasemin, Taşdemir, Mehmet, Ağbaş, Ayşe, Canpolat, Nur, Ćalışkan, Salim, Weber, Ruthild, Bergmann, Carsten, Jeanpierre, Cecile, Saunier, Sophie, Lim, Tze Y., Hildebrandt, Friedhelm, Alhaddad, Bader, Wu, Kaman, Antony, Dinu, Matschkal, Julia, Schaaf, Christian, Renders, Lutz, Schmaderer, Christoph, Meitinger, Thomas, Heemann, Uwe, Köttgen, Anna, Arnold, Sebastian, Ozaltin, Fatih, Schmidts, Miriam, Hoefele, Julia
Publicado 2023

Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice

por 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, Hölter, 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, Adrián, Stoeger, Claudia, Treise, Irina, Bano, Daniele, Busch, Dirk H., Graw, Jochen, Klingenspor, Martin, Klopstock, Thomas, Mock, Beverly A., Salomoni, Paolo, Schmidt-Weber, Carsten, Weiergräber, Marco, Wolf, Eckhard, Wurst, Wolfgang, Gailus-Durner, Valérie, Breteler, Monique M. B., Hrabě de Angelis, Martin, Ehninger, Dan
Publicado 2022