Rezultati pretrage - Manfred Fliegauf

Detaljiziraj rezultate
  1. 1
    Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency

    Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency od Zoya Eskandarian, Manfred Fliegauf, Alla Bulashevska, Michele Proietti, Rosie Hague, Cristian R. Smulski, Desirée Schubert, Klaus Warnatz, Bodo Grimbacher

    Izdano 2019
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  2. 2
    Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia

    Mislocalization of DNAH5 and DNAH9 in Respiratory Cells from Patients with Primary Ciliary Dyskinesia od Manfred Fliegauf, Heike Olbrich, Judit Horváth, Johannes H. Wildhaber, Maimoona A. Zariwala, Marcus P. Kennedy, Michael R. Knowles, Heymut Omran

    Izdano 2005
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  3. 3
    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation od F Schmid, Esther Glaus, Daniel Barthelmes, Manfred Fliegauf, Harald Gaspar, Gudrun Nürnberg, Peter Nürnberg, Heymut Omran, Wolfgang Berger, John Neidhardt

    Izdano 2011
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  4. 4
    Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study

    Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study od Jessica Rojas‐Restrepo, Andrés Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher

    Izdano 2021
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  5. 5
    NFKB1 regulates human NK cell maturation and effector functions

    NFKB1 regulates human NK cell maturation and effector functions od Vassilios Lougaris, Ornella Patrizi, Manuela Baronio, Giovanna Tabellini, Giacomo Tampella, Eufemia Damiati, Natalie Frede, J.W.M. van der Meer, Manfred Fliegauf, Bodo Grimbacher, Silvia Parolini, Alessandro Plebani

    Izdano 2016
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  6. 6
    Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting Cilia

    Nephrocystin Specifically Localizes to the Transition Zone of Renal and Respiratory Cilia and Photoreceptor Connecting Cilia od Manfred Fliegauf, Judit Horváth, Christian von Schnakenburg, Heike Olbrich, Dominik N. Müller, Julia Thumfart, Bernhard Schermer, Gregory J. Pazour, Hartmut P.H. Neumann, Hanswalter Zentgraf, Thomas Benzing, Heymut Omran

    Izdano 2006
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  7. 7
    The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth

    The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth od Bernhard Schermer, Cristina Ghenoiu, Malte P. Bartram, Roman Ulrich Müller, Fruzsina Kotsis, Martin Höhne, W Kühn, Manuela Rapka, Roland Nitschke, Hanswalter Zentgraf, Manfred Fliegauf, Heymut Omran, Gerd Walz, Thomas Benzing

    Izdano 2006
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  8. 8
    Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

    Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism od Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo F. H. Engelke, Judit Horváth, Manfred Fliegauf, Niki T. Loges, Susanne Schweitzer‐Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti‐Furga, Ron A. Wevers, Heymut Omran

    Izdano 2006
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  9. 9
    Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

    Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia od Bernhard Schermer, Katja Höpker, Heymut Omran, Cristina Ghenoiu, Manfred Fliegauf, Andrea Fekete, Judit Horváth, Michael Köttgen, Matthias J. Hackl, Stefan Zschiedrich, Tobias B. Huber, Albrecht Kramer-Zucker, Hanswalter Zentgraf, Andree Blaukat, Gerd Walz, Thomas Benzing

    Izdano 2005
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  10. 10
    <i>DNAH5</i> Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

    <i>DNAH5</i> Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects od Nada Hornef, Heike Olbrich, Judit Horváth, Maimoona A. Zariwala, Manfred Fliegauf, Niki T. Loges, Johannes H. Wildhaber, Peadar G. Noone, Marcus P. Kennedy, Stylianos E. Antonarakis, Jean-Louis Blouin, Lucia Bartoloni, Thomas Nüßlein, Peter Ahrens, Matthias Griese, Heiner Kuhl, Ralf Sudbrak, Michael R. Knowles, Richard Reinhardt, Heymut Omran

    Izdano 2006
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  11. 11
    DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

    DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm od Niki T. Loges, Heike Olbrich, Lale Fenske, Huda Mussaffi, Judit Horváth, Manfred Fliegauf, Heiner Kuhl, G Baktai, Erzsebet Peterffy, Rahul Chodhari, Eddie M.K. Chung, Andrew Rutman, Christopher O’Callaghan, Hannah Blau, László Tiszlavicz, Katarzyna Voelkel, Michał Witt, Ewa Ziętkiewicz, Jürgen Neesen, Richard Reinhardt, Hannah M. Mitchison, Heymut Omran

    Izdano 2008
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  12. 12
    Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

    Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins od Heymut Omran, Daisuke Kobayashi, Heike Olbrich, Tatsuya Tsukahara, Niki T. Loges, Haruo Hagiwara, Qi Zhang, Gerard Leblond, Eileen O’Toole, Chikako Hara, Hideaki Mizuno, Hiroyuki Kawano, Manfred Fliegauf, Toshiki Yagi, Sumito Koshida, Atsushi Miyawaki, Hanswalter Zentgraf, Horst Seithe, Richard Reinhardt, Yoshinori Watanabe, Ritsu Kamiya, David R. Mitchell, Hiroyuki Takeda

    Izdano 2008
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  13. 13
    The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

    The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation od Anita Becker-Heck, Irene E. Zohn, Noriko Okabe, Andrew Pollock, Kari Baker Lenhart, Jessica Sullivan-Brown, Jason C. McSheene, Niki T. Loges, Heike Olbrich, Karsten Häeffner, Manfred Fliegauf, Judith Horvath, Richard Reinhardt, Kim G. Nielsen, June K. Marthin, G Baktai, Kathryn V. Anderson, Robert Geisler, Lee Niswander, Heymut Omran, Rebecca D. Burdine

    Izdano 2010
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  14. 14
    Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

    Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 od Christian Klemann, Nadezhda Camacho-Ordóñez, Linlin Yang, Zoya Eskandarian, Jessica Rojas‐Restrepo, Natalie Frede, Alla Bulashevska, Maximilian Heeg, Moudjahed Saleh Al-Ddafari, Julian Premm, Maximilian Seidl, Sandra Ammann, Roya Sherkat, Nita Radhakrishnan, Klaus Warnatz, Susanne Unger, Robin Kobbe, Anja Hüfner, Timothy Ronan Leahy, Winnie Ip, Siobhán O. Burns, Manfred Fliegauf, Bodo Grimbacher

    Izdano 2019
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  15. 15
    Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency

    Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency od Manfred Fliegauf, Vanessa L. Bryant, Natalie Frede, C Slade, See‐Tarn Woon, Klaus Lehnert, Sandra Winzer, Alla Bulashevska, Thomas Scerri, Euphemia Leung, A. M. Jordan, Baerbel Keller, Esther de Vries, Hongzhi Cao, Fang� Yang, Alejandro A. Schäffer, Klaus Warnatz, Peter Browett, John Aubrey Douglass, Rohan Ameratunga, J.W.M. van der Meer, Bodo Grimbacher

    Izdano 2015
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  16. 16
    Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

    Mutations in CBL occur frequently in juvenile myelomonocytic leukemia od Mignon L. Loh, Debbie S. Sakai, Christian Flotho, Michelle Kang, Manfred Fliegauf, Sophie Archambeault, Charles G. Mullighan, Leslie Chen, Eva Bergstraesser, Carlos E. Bueso‐Ramos, Peter D. Emanuel, Henrik Hasle, Jean–Pierre J. Issa, Marry M. van den Heuvel‐Eibrink, Franco Locatelli, Jan Starý, M. Trebo, Marcin W. Włodarski, Marco Zecca, Kevin Shannon, Charlotte M. Niemeyer

    Izdano 2009
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  17. 17
    <i>DCLRE1C</i>(ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

    <i>DCLRE1C</i>(ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency od Timo Volk, Ulrich Pannicke, İsmail Reisli, Alla Bulashevska, Julia Ritter, Andrea Björkman, Alejandro A. Schäffer, Manfred Fliegauf, Esra Hazar Sayar, Ulrich Salzer, Paul Fisch, Dietmar Pfeifer, Michela Di Virgilio, Hongzhi Cao, Fang� Yang, Karin Zimmermann, Sevgi Keleş, Zafer Çalışkaner, S ̧ükrü Güner, Detlev Schindler, Lennart Hammarström, Marta Rizzi, Michael Hummel, Qiang Pan‐Hammarström, Klaus Schwarz, Bodo Grimbacher

    Izdano 2015
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  18. 18
    Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

    Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia od Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, Valeska Frank, Heike Olbrich, Janbernd Kirschner, Bernhard Schermer, Ingolf Schmedding, Andreas Kispert, Bettina Kränzlin, Gudrun Nürnberg, Christian Becker, T. Grimm, G Girschick, Sally Ann Lynch, P. Kelehan, Jan Senderek, Thomas J. Neuhaus, Thomas Stallmach, Hanswalter Zentgraf, Peter Nürnberg, Norbert Gretz, Cecilia Lo, Soeren S. Lienkamp, Tobias Schäfer, Gerd Walz, Thomas Benzing, Klaus Zerres, Heymut Omran

    Izdano 2008
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  19. 19
    Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)

    Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1) od Desirée Schubert, Marie-Christine Klein, Sarah Haßdenteufel, Andrés Caballero-Oteyza, Linlin Yang, Michele Proietti, Alla Bulashevska, Janine Kemming, Johannes Kühn, Sandra Winzer, Stephan Rusch, Manfred Fliegauf, Alejandro A. Schäffer, Stefan Pfeffer, Roger Geiger, Adolfo Cavalié, Hongzhi Cao, Fang� Yang, Yong Li, Marta Rizzi, Hermann Eibel, Robin Kobbe, Amy L. Marks, Brian P. Peppers, Robert Hostoffer, Jennifer M. Puck, Richard Zimmermann, Bodo Grimbacher

    Izdano 2017
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  20. 20
    ZNF341 controls STAT3 expression and thereby immunocompetence

    ZNF341 controls STAT3 expression and thereby immunocompetence od Stefanie Frey-Jakobs, Julia Maria Hartberger, Manfred Fliegauf, Claudia Bossen, Magdalena L. Wehmeyer, J Neubauer, Alla Bulashevska, Michele Proietti, Philipp Fröbel, Christina Nöltner, Linlin Yang, Jessica Rojas‐Restrepo, Niko Langer, Sandra Winzer, Karin R. Engelhardt, Cristina Glocker, Dietmar Pfeifer, Adi Klein, Alejandro A. Schäffer, Irina Lagovsky, Idit Lachover‐Roth, Vivien Béziat, Anne Puel, Jean‐Laurent Casanova, Bernhard Fleckenstein, Stephan Weidinger, Sara Şebnem Kılıç, Ben‐Zion Garty, Amos Etzioni, Bodo Grimbacher

    Izdano 2018
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