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

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

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