Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Hans-Jürgen K"'
Autor:
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a posts
Externí odkaz:
https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Neurodevelopmental disorders (NDDs) represent a large group of disorders with an onset in the neonatal or early childhood period; NDDs include intellectual disability (ID), autism spectrum disorders (ASD), attention deficit hyperactivity disorders (A
Externí odkaz:
https://doaj.org/article/8d4cbfa148d94a3cbf5ebbf7a4df35ba
Autor:
Martin Höhendinger, Hans-Jürgen Krieg, Reinhard Dietrich, Stefan Rauscher, Christina Hartung, Jörn Stumpenhausen, Heinz Bernhardt
Publikováno v:
AgriEngineering, Vol 5, Iss 4, Pp 2196-2215 (2023)
To expand the potential of renewable energies, energy storage is required to level peaks in energy demand and supply. The aim of the present study was to examine and characterize the energy consumption of a milk production system to find possibilitie
Externí odkaz:
https://doaj.org/article/455e6545b02348fa8d5b70499e09bb7e
Autor:
William Graf von Westarp, Jan Wiesenthal, Jan-Dirk Spöring, Hendrik G. Mengers, Marvin Kasterke, Hans-Jürgen Koß, Lars M. Blank, Dörte Rother, Jürgen Klankermayer, Andreas Jupke
Publikováno v:
Communications Chemistry, Vol 6, Iss 1, Pp 1-11 (2023)
Abstract To reduce carbon dioxide emissions, carbon-neutral fuels have recently gained renewed attention. Here we show the development and evaluation of process routes for the production of such a fuel, the cyclic acetal 4,5-dimethyl-1,3-dioxolane, f
Externí odkaz:
https://doaj.org/article/217cc94863f84975816f73ad12dfdeef
Autor:
Raphael Dewor, Christian Schulz, Rene Daniel Büttgen, Thorsten Brands, Karl-Alexander Heufer, Hans-Jürgen Koß
Publikováno v:
Applications in Energy and Combustion Science, Vol 16, Iss , Pp 100228- (2023)
The interaction of recirculated NOX with two-stage fuels in the early combustion process is not fully understood, especially at lower temperatures. Recently developed kinetic combustion models try to reproduce these interactions. To validate and impr
Externí odkaz:
https://doaj.org/article/88160dd4bb1f45b5901670fca6ce391d
Autor:
William Graf von Westarp, Jan Wiesenthal, Jan-Dirk Spöring, Hendrik G. Mengers, Marvin Kasterke, Hans-Jürgen Koß, Lars M. Blank, Dörte Rother, Jürgen Klankermayer, Andreas Jupke
Publikováno v:
Communications Chemistry, Vol 6, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/9dc26ae647cc4fed97a5a3798b803260
Autor:
Daniel Woike, Emily Wang, Debora Tibbe, Fatemeh Hassani Nia, Antonio Virgilio Failla, Maria Kibæk, Tinett Martesen Overgård, Martin J. Larsen, Christina R. Fagerberg, Igor Barsukov, Hans-Jürgen Kreienkamp
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-19 (2022)
Abstract Shank proteins are major scaffolds of the postsynaptic density of excitatory synapses. Mutations in SHANK genes are associated with autism and intellectual disability. The effects of missense mutations on Shank3 function, and therefore the p
Externí odkaz:
https://doaj.org/article/b47b07b3d59b416d88bdead679cb20bf
Publikováno v:
TH Open, Vol 07, Iss 01, Pp e56-e64 (2023)
Background Light transmission aggregometry (LTA) is considered the gold standard for the evaluation of platelet function but is labor-intensive and involves numerous manual steps. Automation may contribute to standardization. Here, we evaluate the pe
Externí odkaz:
https://doaj.org/article/194dc8fac08042239017caa2a4acb2e5
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Davor Lessel, Daniela M. Zeitler, Margot R. F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Graus, Allyn McConkie-Rosell, Marie McDonald, Bernarda Lozic, Ee-Shien Tan, Erica Gerkes, Jessika Johannsen, Jonas Denecke, Aida Telegrafi, Evelien Zonneveld-Huijssoon, Henny H. Lemmink, Breana W. M. Cham, Tanja Kovacevic, Linda Ramsdell, Kimberly Foss, Diana Le Duc, Diana Mitter, Steffen Syrbe, Andreas Merkenschlager, Margje Sinnema, Bianca Panis, Joanna Lazier, Matthew Osmond, Taila Hartley, Jeremie Mortreux, Tiffany Busa, Chantal Missirian, Pankaj Prasun, Sabine Lüttgen, Ilaria Mannucci, Ivana Lessel, Claudia Schob, Stefan Kindler, John Pappas, Rachel Rabin, Marjolein Willemsen, Thatjana Gardeitchik, Katharina Löhner, Patrick Rump, Kerith-Rae Dias, Carey-Anne Evans, Peter Ian Andrews, Tony Roscioli, Han G. Brunner, Chieko Chijiwa, M. E. Suzanne Lewis, Rami Abou Jamra, David A. Dyment, Kym M. Boycott, Alexander P. A. Stegmann, Christian Kubisch, Ene-Choo Tan, Ghayda M. Mirzaa, Kirsty McWalter, Tjitske Kleefstra, Rolph Pfundt, Zoya Ignatova, Gunter Meister, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.
Externí odkaz:
https://doaj.org/article/d67d1cc583c34e7f9e0a8f4ce72015a2