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1. X-linked deletion of Crossfirre, Firre, and Dxz4 in vivo uncovers diverse phenotypes and combinatorial effects on autosomes

Author

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, Hölter, Sabine M., Kraiger, Markus, Östereicher, Manuela A., Rathkolb, Birgit, Sanz-Moreno, Adrián, Spielmann, Nadine, Wurst, Wolfgang, Gailus-Durner, Valerie, Fuchs, Helmut, Hrabě de Angelis, Martin, Meissner, Alexander, Engelhardt, Stefan, Rinn, John L., and Andergassen, Daniel

Published
2024
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3. Single-cell, whole-embryo phenotyping of mammalian developmental disorders

Author

Huang, Xingfan, Henck, Jana, Qiu, Chengxiang, Sreenivasan, Varun KA, 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, and Spielmann, Malte

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Mice, Cell Nucleus, Developmental Disabilities, Embryo, Mammalian, Gain of Function Mutation, Genotype, Loss of Function Mutation, Models, Genetic, Mutation, Phenotype, Single-Cell Gene Expression Analysis, Disease Models, Animal, General Science & Technology
Abstract

Mouse models are a critical tool for studying human diseases, particularly developmental disorders1. However, conventional approaches for phenotyping may fail to detect subtle defects throughout the developing mouse2. Here we set out to establish single-cell RNA sequencing of the whole embryo as a scalable platform for the systematic phenotyping of mouse genetic models. We applied combinatorial indexing-based single-cell RNA sequencing3 to profile 101 embryos of 22 mutant and 4 wild-type genotypes at embryonic day 13.5, altogether profiling more than 1.6 million nuclei. The 22 mutants represent a range of anticipated phenotypic severities, from established multisystem disorders to deletions of individual regulatory regions4,5. We developed and applied several analytical frameworks for detecting differences in composition and/or gene expression across 52 cell types or trajectories. Some mutants exhibit changes in dozens of trajectories whereas others exhibit changes in only a few cell types. We also identify differences between widely used wild-type strains, compare phenotyping of gain- versus loss-of-function mutants and characterize deletions of topological associating domain boundaries. Notably, some changes are shared among mutants, suggesting that developmental pleiotropy might be 'decomposable' through further scaling of this approach. Overall, our findings show how single-cell profiling of whole embryos can enable the systematic molecular and cellular phenotypic characterization of mouse mutants with unprecedented breadth and resolution.

Published
2023

4. Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Author

Guo, Long, Salian, Smrithi, Xue, Jing-Yi, Rath, Nicola, Rousseau, Justine, Kim, Hyunyun, Ehresmann, Sophie, Moosa, Shahida, Nakagawa, Norio, Kuroda, Hiroshi, Clayton-Smith, Jill, Wang, Juan, Wang, Zheng, Banka, Siddharth, Jackson, Adam, Zhang, Yan-Min, Wei, Zhen-Jie, Hüning, Irina, Brunet, Theresa, Ohashi, Hirofumi, Thomas, Molly, Bupp, Caleb, Miyake, Noriko, Matsumoto, Naomichi, Mendoza-Londono, Roberto, Costain, Gregory, Hahn, Gabriele, Di Donato, Nataliya, Yigit, Gökhan, Yamada, Takahiro, Nishimura, Gen, Ansel, Karl, Wollnik, Bernd, Hrabě de Angelis, Martin, Mégarbané, André, Rosenfeld, Jill, Heissmeyer, Vigo, Ikegawa, Shiro, and Campeau, Philippe

Subjects
ERI1, exoribonuclease, ribosomopathy, short stature, skeletal dysplasia, spondyloepimetaphyseal dysplasia, Humans, Exoribonucleases, Histones, Mutation, Missense, RNA, Ribosomal, 5.8S, RNA, RNA, Messenger
Abstract

ERI1 is a 3-to-5 exoribonuclease involved in RNA metabolic pathways including 5.8S rRNA processing and turnover of histone mRNAs. Its biological and medical significance remain unclear. Here, we uncover a phenotypic dichotomy associated with bi-allelic ERI1 variants by reporting eight affected individuals from seven unrelated families. A severe spondyloepimetaphyseal dysplasia (SEMD) was identified in five affected individuals with missense variants but not in those with bi-allelic null variants, who showed mild intellectual disability and digital anomalies. The ERI1 missense variants cause a loss of the exoribonuclease activity, leading to defective trimming of the 5.8S rRNA 3 end and a decreased degradation of replication-dependent histone mRNAs. Affected-individual-derived induced pluripotent stem cells (iPSCs) showed impaired in vitro chondrogenesis with downregulation of genes regulating skeletal patterning. Our study establishes an entity previously unreported in OMIM and provides a model showing a more severe effect of missense alleles than null alleles within recessive genotypes, suggesting a key role of ERI1-mediated RNA metabolism in human skeletal patterning and chondrogenesis.

Published
2023

5. EchoVisuAL: Efficient Segmentation of Echocardiograms Using Deep Active Learning

Author

Galter, Isabella, Schneltzer, Elida, Marr, Carsten, Consortium, IMPC, Spielmann, Nadine, Hrabě de Angelis, Martin, Goos, Gerhard, Series Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Yap, Moi Hoon, editor, Kendrick, Connah, editor, Behera, Ardhendu, editor, Cootes, Timothy, editor, and Zwiggelaar, Reyer, editor

Published
2024
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6. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Author

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

Published
2024
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9. Knockout mouse models as a resource for the study of rare diseases

Author

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, and Hrabě de Angelis, Martin

Published
2023
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11. Co-expression of prepulse inhibition and Schizophrenia genes in the mouse and human brain

Author

Aguilar-Pimental, Juan A., Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Da Silva-Buttkus, Patricia, Dragano, Nathalia, Kraiger, Markus, Lengger, Christoph, Leuchtenberger, Stefanie, Marschall, Susan, Oestereicher, Manuela A., Rathkolb, Birgit, Sanz-Moreno, Adrián, Seisenberger, Claudia, Spielmann, Nadine, Stoeger, Claudia, Kumar, Vivek, Keskivali, Piia, King, Ruairidh, Haselimashhadi, Hamed, Bezginov, Alexandr, Norris, Clare, Taylor, Sarah, Pimm, Dale, Kelsey, Lois, Berberovic, Zorana, Qu, Dawei, D'Souza, Abigail, Bradaschia, Vivian, Eskandarian, Mohammed, Shang, Xueyuan, Duffin, Kyle, Roberton, Kyle, Xu, Catherine, Baguinat, Gloria, Laurin, Valerie, Lan, Qing, Sleep, Gillian, Lintott, Lauri, Gertsenstein, Marina, Tondat, Sandra, Cruz, Maribelle, Miller, David, Sorg, Tania, Riet, Fabrice, Tolentino, Heather, Tolentino, Todd, Schuchbauer, Mike, Hockenbury, Nichole, Beeman, Karrie, Pedroia, Sheryl, Salazar, Jason, Heffner, Mollie, Hsu, Joanne, Fletcher, Colin, Vanzanten, Maya, Golini, Elisabetta, Seavitt, John R., Lanza, Denise G., Lorenzo, Isabel, Gaspero, Angelina, Rios, Amanda, Garrett, Lillian, Trümbach, Dietrich, Lee, Donghyung, Mandillo, Silvia, Samaco, Rodney, Flenniken, Ann M., Stewart, Michelle, White, Jacqueline K., McKerlie, Colin, Nutter, Lauryl M.J., Vukobradovic, Igor, Veeraragavan, Surabi, Yuva, Lisa, Heaney, Jason D., Dickinson, Mary E., Meziane, Hamid, Hérault, Yann, Wells, Sara, Lloyd, K.C. Kent, Bower, Lynette, Lanoue, Louise, Clary, Dave, Zimprich, Annemarie, Gailus-Durner, Valerie, Fuchs, Helmut, Brown, Steve D.M., Chesler, Elissa J., Wurst, Wolfgang, Hrabě de Angelis, Martin, and Hölter, Sabine M.

Published
2024
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12. Acute and long-term exercise adaptation of adipose tissue and skeletal muscle in humans: a matched transcriptomics approach after 8-week training-intervention

Author

Dreher, Simon I., Irmler, Martin, Pivovarova-Ramich, Olga, Kessler, Katharina, Jürchott, Karsten, Sticht, Carsten, Fritsche, Louise, Schneeweiss, Patrick, Machann, Jürgen, Pfeiffer, Andreas F. H., Hrabě de Angelis, Martin, Beckers, Johannes, Birkenfeld, Andreas L., Peter, Andreas, Niess, Andreas M., Weigert, Cora, and Moller, Anja

Published
2023
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13. AOX delays the onset of the lethal phenotype in a mouse model of Uqcrh (complex III) disease

Author

Jacobs, Howard T., Szibor, Marten, Rathkolb, Birgit, da Silva-Buttkus, Patricia, Aguilar-Pimentel, Juan Antonio, Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Dragano, Nathalia, Garrett, Lillian, Gerlini, Raffaele, Hölter, Sabine M., Klein-Rodewald, Tanja, Kraiger, Markus, Leuchtenberger, Stefanie, Marschall, Susan, Östereicher, Manuela A., Pfannes, Kristina, Sanz-Moreno, Adrián, Seisenberger, Claudia, Spielmann, Nadine, Stoeger, Claudia, Wurst, Wolfgang, Fuchs, Helmut, Hrabě de Angelis, Martin, and Gailus-Durner, Valérie

Published
2023
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15. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Author

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, Isabelle, Pastinen, Tomi, Sheikh, Kazim, Biliciler, Suur, Mei, Davide, Melani, Federico, Shashi, Vandana, Yaron, Yuval, Steele, Mary, Wakeling, Emma, Østergaard, 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, Hrabě de Angelis, Martin, Hölter, Sabine M., Cheung, Hoi-Hung, Gu, Shen, and Lupski, James R.

Published
2023
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17. Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome

Author

Maity-Kumar, Gandhari, Ständer, 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, Schöffling, Vanessa I., Beiser, Katja, Krude, Heiko, Mroz, Piotr A., Hofmann, Susanna, Tuckermann, Jan, DiMarchi, Richard D., Hrabe de Angelis, Martin, Tschöp, Matthias H., Pfluger, Paul T., and Müller, Timo D.

Published
2022
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19. Identifying novel genetic determinants of Indirect Genetic Effects

Author

Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.), Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.);Wolf, Eckhard (Prof. Dr.), Tomar, Archana, Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.), Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.);Wolf, Eckhard (Prof. Dr.), and Tomar, Archana

Abstract

This study explored the genotype-phenotype association resource of the International Mouse Phenotyping Consortium (IMPC) with the aim of understanding whether Indirect Genetic Effects are detectable and how common they are in mammalian genetics, what are the underlying genetic determinants of Indirect Genetic Effects in mammals and which relevance they may have for human physiology and susceptibility to complex diseases., Diese Studie untersuchte die Genotyp-Phänotyp-Assoziation Ressource des International Mouse Phenotyping Consortium (IMPC) untersucht, um zu verstehen, ob indirekte genetische Effekte nachweisbar sind und wie häufig sie in der Säugetiere Genetik vorkommen. Zudem habe ich untersucht welche genetischen Determinanten den indirekten genetischen Effekten bei Säugetieren zugrunde liegen und welche Bedeutung diese für die menschliche Physiologie und die Anfälligkeit für komplexe Krankheiten haben könnten.

Published
2024

20. The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation

Author

Muñoz-Fuentes, Violeta, Cacheiro, Pilar, Meehan, Terrence F, Aguilar-Pimentel, Juan Antonio, Brown, Steve DM, Flenniken, Ann M, Flicek, Paul, Galli, Antonella, Mashhadi, Hamed Haseli, Hrabě de Angelis, Martin, Kim, Jong Kyoung, Lloyd, KC Kent, McKerlie, Colin, Morgan, Hugh, Murray, Stephen A, Nutter, Lauryl MJ, Reilly, Patrick T, Seavitt, John R, Seong, Je Kyung, Simon, Michelle, Wardle-Jones, Hannah, Mallon, Ann-Marie, Smedley, Damian, Parkinson, Helen E, and the IMPC consortium

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Life on Land, Cheetah, Endangered species, Loss-of-function, Non-model species, Panda, Polar bear, Phenotype, Wolf, Essential genes, IMPC, Knockout, Mouse, IMPC consortium, Environmental Sciences, Evolutionary Biology, Biological sciences, Environmental sciences
Abstract

The International Mouse Phenotyping Consortium (IMPC) is building a catalogue of mammalian gene function by producing and phenotyping a knockout mouse line for every protein-coding gene. To date, the IMPC has generated and characterised 5186 mutant lines. One-third of the lines have been found to be non-viable and over 300 new mouse models of human disease have been identified thus far. While current bioinformatics efforts are focused on translating results to better understand human disease processes, IMPC data also aids understanding genetic function and processes in other species. Here we show, using gorilla genomic data, how genes essential to development in mice can be used to help assess the potentially deleterious impact of gene variants in other species. This type of analyses could be used to select optimal breeders in endangered species to maintain or increase fitness and avoid variants associated to impaired-health phenotypes or loss-of-function mutations in genes of critical importance. We also show, using selected examples from various mammal species, how IMPC data can aid in the identification of candidate genes for studying a condition of interest, deliver information about the mechanisms involved, or support predictions for the function of genes that may play a role in adaptation. With genotyping costs decreasing and the continued improvements of bioinformatics tools, the analyses we demonstrate can be routinely applied.

Published
2018

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

Author

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, and Ehninger, Dan

Published
2022
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23. Co-expression of prepulse inhibition and schizophrenia genes in the mouse and human brain

Author

Garrett, Lillian, primary, Trümbach, Dietrich, additional, Lee, Dongyhung, additional, Mandillo, Silvia, additional, Samaco, Rodney, additional, Flenniken, Ann M., additional, Stewart, Michelle, additional, Aguilar-Pimental, Juan A., additional, Amarie, Oana V., additional, Becker, Lore, additional, Calzada-Wack, Julia, additional, Da Silva-Buttkus, Patricia, additional, Dragano, Nathalia, additional, Kraiger, Markus, additional, Lengger, Christoph, additional, Leuchtenberger, Stefanie, additional, Marschall, Susan, additional, Oestereicher, Manuela A., additional, Rathkolb, Birgit, additional, Sanz-Moreno, Adrián, additional, Seisenberger, Claudia, additional, Spielmann, Nadine, additional, Stoeger, Claudia, additional, Kumar, Vivek, additional, Keskivali, Piia, additional, King, Ruairidh, additional, Haselimashhadi, Hamed, additional, Bezginov, Alexandr, additional, Norris, Clare, additional, Taylor, Sarah, additional, Pimm, Dale, additional, Kelsey, Lois, additional, Berberovic, Zorana, additional, Qu, Dawei, additional, D'Souza, Abigail, additional, Bradaschia, Vivian, additional, Eskandarian, Mohammed, additional, Shang, Xueyuan, additional, Duffin, Kyle, additional, Roberton, Kyle, additional, Xu, Catherine, additional, Baguinat, Gloria, additional, Laurin, Valerie, additional, Lan, Qing, additional, Sleep, Gillian, additional, Lintott, Lauri, additional, Gertsenstein, Marina, additional, Tondat, Sandra, additional, Cruz, Maribelle, additional, Miller, David, additional, Sorg, Tania, additional, Riet, Fabrice, additional, Tolentino, Heather, additional, Tolentino, Todd, additional, Schuchbauer, Mike, additional, Hockenbury, Nichole, additional, Beeman, Karrie, additional, Pedroia, Sheryl, additional, Salazar, Jason, additional, Heffner, Mollie, additional, Hsu, Joanne, additional, Fletcher, Colin, additional, Vanzanten, Maya, additional, Golini, Elisabetta, additional, Seavitt, John R., additional, Lanza, Denise G., additional, Lorenzo, Isabel, additional, Gaspero, Angelina, additional, Rios, Amanda, additional, White, Jacqueline K., additional, McKerlie, Colin, additional, Nutter, Lauryl M.J., additional, Vukobradovic, Igor, additional, Veeraragavan, Surabi, additional, Yuva, Lisa, additional, Heaney, Jason D., additional, Dickinson, Mary E., additional, Meziane, Hamid, additional, Hérault, Yann, additional, Wells, Sara, additional, Lloyd, K.C.Kent, additional, Bower, Lynette, additional, Lanoue, Louise, additional, Clary, Dave, additional, Zimprich, Annemarie, additional, Gailus-Durner, Valerie, additional, Fuchs, Helmut, additional, Brown, Steve D.M., additional, Chesler, Elissa J., additional, Wurst, Wolfgang, additional, Hrabě de Angelis, Martin, additional, and Hölter, Sabine M., additional

Published
2024
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26. INFRAFRONTIER quality principles in systemic phenotyping

Author

Ehlich, Hilke, Cater, Heather L., Flenniken, Ann M., Goncalves Da Cruz, Isabelle, Mura, Anne-Marie, Ntafis, Vasileios, Raess, Michael, Selloum, Mohammed, Stoeger, Claudia, Suchanova, Sarka, Vuolteenaho, Reetta, Brown, Steve D. M., Hérault, Yann, Hinttala, Reetta, Hrabě de Angelis, Martin, Kollias, George, Kontoyiannis, Dimitris L., Malissen, Bernard, McKerlie, Colin, Sedláček, Radislav, Wells, Sara E., Zarubica, Ana, Rozman, Jan, and Sorg, Tania

Published
2022
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28. Costs of Implementing Quality in Research Practice

Author

Meagan Littrell, O., Stoeger, Claudia, Maier, Holger, Fuchs, Helmut, Hrabě de Angelis, Martin, Cassis, Lisa A., Gerhardt, Greg A., Grondin, Richard, Gailus-Durner, Valérie, Barrett, James E., Editor-in-Chief, Flockerzi, Veit, Editorial Board Member, Frohman, Michael A., Editorial Board Member, Geppetti, Pierangelo, Editorial Board Member, Hofmann, Franz B., Editorial Board Member, Michel, Martin C., Editorial Board Member, Page, Clive P., Editorial Board Member, Rosenthal, Walter, Editorial Board Member, Wang, KeWei, Editorial Board Member, Bespalov, Anton, editor, and Steckler, Thomas, editor

Published
2020
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36. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

Author

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, and Hrabě de Angelis, Martin

Published
2021
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39. In-depth characterization of mouse models for monogenic diabetes and gene therapy of Hnf4a-KI mice

Author

Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.), Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.);Schnieke, Angelika (Prof., Ph.D.), Amend, Anna-Lena, Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.), Hrabě de Angelis, Martin (Prof. Dr. Dr. h.c. mult.);Schnieke, Angelika (Prof., Ph.D.), and Amend, Anna-Lena

Abstract

This project focused on the detailed characterization of nine mouse models for monogenic diabetes and the feasibility of AAV-mediated gene therapy for their treatment. The results of this study provide valuable insights into the pathophysiology of monogenic diabetes caused by Ins2, Pdia6 and Hnf4a mutations and confirmed the possibility of gene transfer directly to the pancreas. Each of the mouse models was subjected to an individualized series of in vitro and in vivo experiments., Dieses Projekt beinhaltete die Charakterisierung von neun Mausmodellen für monogenetischen Diabetes und die Durchführbarkeit einer AAV-vermittelten Gentherapie für deren Behandlung. Die Ergebnisse dieser Studie liefern wertvolle Einblicke in die Pathophysiologie des durch Ins2-, Pdia6- und Hnf4a-Mutationen verursachten monogenetischen Diabetes und bestätigten die Möglichkeit des Gentransfers direkt in die Bauchspeicheldrüse.

Published
2023

41. Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic

Author

Fuchs, Helmut, Aguilar-Pimentel, Juan Antonio, Amarie, Oana V., Becker, Lore, Calzada-Wack, Julia, Cho, Yi-Li, Garrett, Lillian, Hölter, Sabine M., Irmler, Martin, Kistler, Martin, Kraiger, Markus, Mayer-Kuckuk, Philipp, Moreth, Kristin, Rathkolb, Birgit, Rozman, Jan, da Silva Buttkus, Patricia, Treise, Irina, Zimprich, Annemarie, Gampe, Kristine, Hutterer, Christine, Stöger, Claudia, Leuchtenberger, Stefanie, Maier, Holger, Miller, Manuel, Scheideler, Angelika, Wu, Moya, Beckers, Johannes, Bekeredjian, Raffi, Brielmeier, Markus, Busch, Dirk H., Klingenspor, Martin, Klopstock, Thomas, Ollert, Markus, Schmidt-Weber, Carsten, Stöger, Tobias, Wolf, Eckhard, Wurst, Wolfgang, Yildirim, Ali Önder, Zimmer, Andreas, Gailus-Durner, Valérie, and Hrabě de Angelis, Martin

Published
2018
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43. Genome-wide analysis of PDX1 target genes in human pancreatic progenitors

Author

Wang, Xianming, Sterr, Michael, Burtscher, Ingo, Chen, Shen, Hieronimus, Anja, Machicao, Fausto, Staiger, Harald, Häring, Hans-Ulrich, Lederer, Gabriele, Meitinger, Thomas, Cernilogar, Filippo M., Schotta, Gunnar, Irmler, Martin, Beckers, Johannes, Hrabě de Angelis, Martin, Ray, Michael, Wright, Christopher V.E., Bakhti, Mostafa, and Lickert, Heiko

Published
2018
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45. The Role of Fibroblast Growth Factor-Binding Protein 1 in Skin Carcinogenesis and Inflammation

Author

Becker, Lore, Vernaleken, Alexandra, Klopstock, Thomas, Adler, Thure, Treise, Irina, Horsch, Marion, Moreth, Kristin, Brommage, Robert, Hans, Wolfgang, Östereicher, Manuela, Steinkamp, Ralph, Lengger, Christoph, Maier, Holger, Stoeger, Claudia, Leuchtenberger, Stefanie, Busch, Dirk H., Beckers, Johannes, Bekeredjian, Raffi, Garrett, Lillian, Hölter, Sabine M., Zimprich, Annemarie, Amarie, Oana, Wurst, Wolfgang, Graw, Jochen, Rozman, Jan, Calzada-Wack, Julia, da Silva-Buttkus, Patricia, Neff, Frauke, Klingenspor, Martin, Racz, Ildiko, Zimmer, Andreas, Rathkolb, Birgit, Wolf, Eckhard, Schmidt, Marcel Oliver, Garman, Khalid Ammar, Lee, Yong Gu, Zuo, Chong, Beck, Patrick James, Tan, Mingjun, Aguilar-Pimentel, Juan Antonio, Ollert, Markus, Schmidt-Weber, Carsten, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabe de Angelis, Martin, Tassi, Elena, Riegel, Anna Tate, and Wellstein, Anton

Published
2018
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46. Redox state and altered pyruvate metabolism contribute to a dose-dependent metformin-induced lactate production of human myotubes

Author

Maurer, Jennifer, primary, Zhao, Xinjie, additional, Irmler, Martin, additional, Gudiksen, Anders, additional, Pilmark, Nanna S., additional, Li, Qi, additional, Goj, Thomas, additional, Beckers, Johannes, additional, Hrabě de Angelis, Martin, additional, Birkenfeld, Andreas L., additional, Peter, Andreas, additional, Lehmann, Rainer, additional, Pilegaard, Henriette, additional, Karstoft, Kristian, additional, Xu, Guowang, additional, and Weigert, Cora, additional

Published
2023
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47. Roquin Suppresses the PI3K-mTOR Signaling Pathway to Inhibit T Helper Cell Differentiation and Conversion of Treg to Tfr Cells

Author

Essig, Katharina, Hu, Desheng, Guimaraes, Joao C., Alterauge, Dominik, Edelmann, Stephanie, Raj, Timsse, Kranich, Jan, Behrens, Gesine, Heiseke, Alexander, Floess, Stefan, Klein, Juliane, Maiser, Andreas, Marschall, Susan, Hrabĕ de Angelis, Martin, Leonhardt, Heinrich, Calkhoven, Cornelis F., Noessner, Elfriede, Brocker, Thomas, Huehn, Jochen, Krug, Anne B., Zavolan, Mihaela, Baumjohann, Dirk, and Heissmeyer, Vigo

Published
2017
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49. The Role of Eif6 in Skeletal Muscle Homeostasis Revealed by Endurance Training Co-expression Networks

Author

Clarke, Kim, Ricciardi, Sara, Pearson, Tim, Bharudin, Izwan, Davidsen, Peter K., Bonomo, Michela, Brina, Daniela, Scagliola, Alessandra, Simpson, Deborah M., Beynon, Robert J., Khanim, Farhat, Ankers, John, Sarzynski, Mark A., Ghosh, Sujoy, Pisconti, Addolorata, Rozman, Jan, Hrabe de Angelis, Martin, Bunce, Chris, Stewart, Claire, Egginton, Stuart, Caddick, Mark, Jackson, Malcolm, Bouchard, Claude, Biffo, Stefano, and Falciani, Francesco

Published
2017
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