Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Ulrich Zechner"'
Autor:
Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz
Publikováno v:
JCI Insight, Vol 8, Iss 22 (2023)
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling, and
Externí odkaz:
https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507
Autor:
Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 8 (2023)
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating variant in CEP162, a centrosome and microtub
Externí odkaz:
https://doaj.org/article/5751fc3eb5124e36990ef17731c43da6
Autor:
Maja Šutić, Jurica Baranašić, Lana Kovač Bilić, Mario Bilić, Antonija Jakovčević, Luka Brčić, Sven Seiwerth, Marko Jakopović, Miroslav Samaržija, Ulrich Zechner, Jelena Knežević
Publikováno v:
Diagnostic Pathology, Vol 16, Iss 1, Pp 1-5 (2021)
Abstract Background Patients with head and neck squamous cell carcinoma (HNSCC) can develop lung squamous cell carcinoma (LuSCC), which could be the second primary tumor or HNSCC metastasis. Morphologically it is difficult to distinguish metastatic H
Externí odkaz:
https://doaj.org/article/4fd68a3652fb4856a1e276c4d5560e58
Autor:
Alexis Cooper, Tamer Butto, Niklas Hammer, Somanath Jagannath, Desiree Lucia Fend-Guella, Junaid Akhtar, Konstantin Radyushkin, Florian Lesage, Jennifer Winter, Susanne Strand, Jochen Roeper, Ulrich Zechner, Susann Schweiger
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Birk-Barel intellectual disability is an imprinting syndrome due to maternally-only transmitted mutations of KCNK9/TASK3. Here authors are using a heterozygous deletion of the active maternal Kcnk9 allele to model the disease and show phenotypic resc
Externí odkaz:
https://doaj.org/article/fea75db2dad1436d96f90d9e76ec3153
Autor:
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Abstract Background Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal dia
Externí odkaz:
https://doaj.org/article/e193a86e6c1f4093903148a816cffb40
Publikováno v:
Endocrine Connections, Vol 7, Iss 1, Pp 47-55 (2017)
Poorly differentiated thyroid carcinoma (PDTC) is a rare malignancy with higher mortality than well-differentiated thyroid carcinoma. The histological diagnosis can be difficult as well as the therapy. Improved diagnosis and new targeted therapies re
Externí odkaz:
https://doaj.org/article/8899b1ae495d4406ab81b76df394dc5f
Autor:
Christoph Wilmanns, Alexis Cooper, Leesa Wockner, Sotirios Katsandris, Nadine Glaser, Alexander Meyer, Oliver Bartsch, Harald Binder, Paul Karl Walter, Ulrich Zechner
Publikováno v:
EBioMedicine, Vol 2, Iss 2, Pp 158-164 (2015)
Background: Clinical assessment and prognostic stratification of primary varicose veins have remained controversial and the molecular pathogenesis is unknown. Previous data have suggested a contribution of the MTHFR (methylenetetrahydrofolate reducta
Externí odkaz:
https://doaj.org/article/6993e76304564198ad52cfeebe628a57
Autor:
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 11 (2017)
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neur
Externí odkaz:
https://doaj.org/article/cae7d9bd1909477e9ff58907505c063c
Autor:
Antje Motzek, Jelena Knežević, Olivier J Switzeny, Alexis Cooper, Ivo Barić, Robert Beluzić, Kevin A Strauss, Erik G Puffenberger, S Harvey Mudd, Oliver Vugrek, Ulrich Zechner
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0151261 (2016)
S-adenosylhomocysteine hydrolase (AHCY) deficiency is a rare autosomal recessive disorder in methionine metabolism caused by mutations in the AHCY gene. Main characteristics are psychomotor delay including delayed myelination and myopathy (hypotonia,
Externí odkaz:
https://doaj.org/article/6217b3de51a9474eb9d537f71aed4845
Autor:
Azra Fatima, Shao Kaifeng, Sven Dittmann, Guoxing Xu, Manoj K Gupta, Matthias Linke, Ulrich Zechner, Filomain Nguemo, Hendrik Milting, Martin Farr, Jürgen Hescheler, Tomo Sarić
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e83005 (2013)
Long QT syndromes (LQTS) are heritable diseases characterized by prolongation of the QT interval on an electrocardiogram, which often leads to syncope and sudden cardiac death. Here we report the generation of induced pluripotent stems (iPS) cells fr
Externí odkaz:
https://doaj.org/article/e7b26192d1fe4ce98fde4610894b9064