Zobrazeno 1 - 10
of 1 056
pro vyhledávání: '"F Conrad"'
Autor:
Birgit Stallmeyer, Clara Bühlmann, Rytis Stakaitis, Ann-Kristin Dicke, Farah Ghieh, Luisa Meier, Ansgar Zoch, David MacKenzie MacLeod, Johanna Steingröver, Özlem Okutman, Daniela Fietz, Adrian Pilatz, Antoni Riera-Escamilla, Miguel J. Xavier, Christian Ruckert, Sara Di Persio, Nina Neuhaus, Ali Sami Gurbuz, Ahmet Şalvarci, Nicolas Le May, Kevin McEleny, Corinna Friedrich, Godfried van der Heijden, Margot J. Wyrwoll, Sabine Kliesch, Joris A. Veltman, Csilla Krausz, Stéphane Viville, Donald F. Conrad, Dónal O’Carroll, Frank Tüttelmann
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract piRNAs are crucial for transposon silencing, germ cell maturation, and fertility in male mice. Here, we report on the genetic landscape of piRNA dysfunction in humans and present 39 infertile men carrying biallelic variants in 14 different p
Externí odkaz:
https://doaj.org/article/f298226160c54693a03e5498d577cfea
Autor:
Brendan J. Houston, Joseph Nguyen, D. Jo Merriner, Anne E. O’Connor, Alexandra M. Lopes, Liina Nagirnaja, Corinna Friedrich, Sabine Kliesch, Frank Tüttelmann, Kenneth I. Aston, Donald F. Conrad, Robin M. Hobbs, Jessica E. M. Dunleavy, Moira K. O’Bryan
Publikováno v:
Cell Death and Disease, Vol 15, Iss 7, Pp 1-14 (2024)
Abstract Dynein complexes are large, multi-unit assemblies involved in many biological processes via their critical roles in protein transport and axoneme motility. Using next-generation sequencing of infertile men presenting with low or no sperm in
Externí odkaz:
https://doaj.org/article/38d67cff45b24f41b04e0df254fa2667
Autor:
Tim O. F. Conrad, Eloi Ferrer, Daniel Mietchen, Larissa Pusch, Johannes Stegmüller, Moritz Schubotz
Publikováno v:
Scientific Data, Vol 11, Iss 1, Pp 1-20 (2024)
Abstract The sharing and citation of research data is becoming increasingly recognized as an essential building block in scientific research across various fields and disciplines. Sharing research data allows other researchers to reproduce results, r
Externí odkaz:
https://doaj.org/article/39b11a587c14429887e07da3b648917e
Autor:
Sydney Paltra, Tim O. F. Conrad
Publikováno v:
Advances in Respiratory Medicine, Vol 92, Iss 1, Pp 66-76 (2024)
Nirmatrelvir/Ritonavir is an oral treatment for mild to moderate COVID-19 cases with a high risk for a severe course of the disease. For this paper, a comprehensive literature review was performed, leading to a summary of currently available data on
Externí odkaz:
https://doaj.org/article/9501582fe9de470fb57e7e9eee16bc7e
Autor:
Anna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, Erik Tamp, Anu Valkna, Kristiina Lillepea, Eisa Mahyari, Stanislav Tjagur, Galina Belova, Viljo Kübarsepp, Helen Castillo-Madeen, Antoni Riera-Escamilla, Lisanna Põlluaas, Liina Nagirnaja, Olev Poolamets, Vladimir Vihljajev, Mailis Sütt, Nassim Versbraegen, Sofia Papadimitriou, Robert I. McLachlan, Keith A. Jarvi, Peter N. Schlegel, Sven Tennisberg, Paul Korrovits, Katinka Vigh-Conrad, Moira K. O’Bryan, Kenneth I. Aston, Tom Lenaerts, Donald F. Conrad, Laura Kasak, Margus Punab, Maris Laan
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic featur
Externí odkaz:
https://doaj.org/article/a5a26794d89e45529badd269302ae0fc
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Mariam Okhovat, Jake VanCampen, Kimberly A. Nevonen, Lana Harshman, Weiyu Li, Cora E. Layman, Samantha Ward, Jarod Herrera, Jackson Wells, Rory R. Sheng, Yafei Mao, Blaise Ndjamen, Ana C. Lima, Katinka A. Vigh-Conrad, Alexandra M. Stendahl, Ran Yang, Lev Fedorov, Ian R. Matthews, Sarah A. Easow, Dylan K. Chan, Taha A. Jan, Evan E. Eichler, Sandra Rugonyi, Donald F. Conrad, Nadav Ahituv, Lucia Carbone
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Topological associating domains (TADs) are self-interacting genomic units crucial for shaping gene regulation patterns. Despite their importance, the extent of their evolutionary conservation and its functional implications remain largely un
Externí odkaz:
https://doaj.org/article/65e9bbc94a464705ac4ea7c071b55e77
Publikováno v:
Machine Learning and Knowledge Extraction, Vol 5, Iss 4, Pp 1539-1556 (2023)
Implantable Cardiac Monitor (ICM) devices are demonstrating, as of today, the fastest-growing market for implantable cardiac devices. As such, they are becoming increasingly common in patients for measuring heart electrical activity. ICMs constantly
Externí odkaz:
https://doaj.org/article/8926f171dd224c9db357d48613252da7
Autor:
Ann-Kristin Dicke, Adrian Pilatz, Margot J. Wyrwoll, Margus Punab, Christian Ruckert, Liina Nagirnaja, Kenneth I. Aston, Donald F. Conrad, Sara Di Persio, Nina Neuhaus, Daniela Fietz, Maris Laan, Birgit Stallmeyer, Frank Tüttelmann
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-7 (2023)
Analysing genetic data from 1,655 men with non-obstructive azoospermia (NOA) reveals four independent loss-of-function variants in DDX3Y, suggesting that it is a key gene in the AZFa region and should be considered in diagnostic workflows for NOA.
Externí odkaz:
https://doaj.org/article/b6fc71cd78ac4af686a3f5be73425dc6
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Large-scale perturbations in the microbiome constitution are strongly correlated, whether as a driver or a consequence, with the health and functioning of human physiology. However, understanding the difference in the microbiome profiles of
Externí odkaz:
https://doaj.org/article/b9afa2ceb1fa40ff97b0d8b4a9b90a52