Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Karl X Knaup"'
Autor:
Bernt Popp, Abbas Agaimy, Cornelia Kraus, Karl X. Knaup, Arif B. Ekici, Steffen Uebe, André Reis, Michael Wiesener, Christiane Zweier
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background Several subunits of the SWI/SNF chromatin remodeling complex are implicated in both cancer and neurodevelopmental disorders (NDD). Though there is no clinical evidence for an increased tumor risk in individuals with NDDs due to ge
Externí odkaz:
https://doaj.org/article/62cf4c5f58b74b2e81645dc5bb30cb99
Autor:
Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner
Publikováno v:
PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the phosphorylation of PI(4)P into PI(3,4)P2. At the cellular level, PIK3C2A is critical for t
Externí odkaz:
https://doaj.org/article/53593e35407b4010bb8e4e02f0479df0
Autor:
Michael S. Wiesener, Kai-Uwe Eckardt, Christina Warnecke, Jan Steffen Juergensen, Alexander Weidemann, Wanja M. Bernhardt, Regina Schmidt, Katrin Jozefowski, Karl X. Knaup
Supplementary Tables S1-S2 from Mutual Regulation of Hypoxia-Inducible Factor and Mammalian Target of Rapamycin as a Function of Oxygen Availability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a29d8495056159797c38999d2bd63799
https://doi.org/10.1158/1541-7786.22518948
https://doi.org/10.1158/1541-7786.22518948
Autor:
Michael S. Wiesener, Kai-Uwe Eckardt, Christina Warnecke, Jan Steffen Juergensen, Alexander Weidemann, Wanja M. Bernhardt, Regina Schmidt, Katrin Jozefowski, Karl X. Knaup
The mammalian target of rapamycin (mTOR) regulates cellular growth and proliferation, mainly by controlling cellular translation. Most tumors show constitutive activation of the mTOR pathway. In hypoxia, mTOR is inactivated, which is believed to be p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79136757675fd2feee3a76bf5a5d589f
https://doi.org/10.1158/1541-7786.c.6542193.v1
https://doi.org/10.1158/1541-7786.c.6542193.v1
Autor:
Steffen Grampp, René Krüger, Victoria Lauer, Sebastian Uebel, Karl X. Knaup, Julia Naas, Verena Höffken, Thomas Weide, Mario Schiffer, Stephanie Naas, Johannes Schödel
Publikováno v:
Kidney International.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d1152e88b4a750400cad1575e189fd6
https://doi.org/10.1016/j.kint.2023.03.035
https://doi.org/10.1016/j.kint.2023.03.035
Autor:
Bernt Popp, Arif B. Ekici, Karl X. Knaup, Karen Schneider, Steffen Uebe, Jonghun Park, Vineet Bafna, Heike Meiselbach, Kai-Uwe Eckardt, Mario Schiffer, André Reis, Cornelia Kraus, Michael Wiesener
Publikováno v:
European journal of human genetics : EJHG. 30(12)
Hereditary chronic kidney disease (CKD) appears to be more frequent than the clinical perception. Exome sequencing (ES) studies in CKD cohorts could identify pathogenic variants in ~10% of individuals. Tubulointerstitial kidney diseases, showing no t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772abfcf40ae138b7f5cb312d414d46f
https://pubmed.ncbi.nlm.nih.gov/36100708
https://pubmed.ncbi.nlm.nih.gov/36100708
Autor:
Anne Dieterle, Florian W. R. Vondran, Mario Schiffer, Maike Büttner-Herold, Markus Schueler, Cornelia Kraus, Kerstin Amann, Johanna Stoeckert, Felix Braun, André Reis, Alexandra Wald, Karl X. Knaup, Christian Morath, Bernhard Riedl, Antje Wiesener, Michael S. Wiesener, Johannes Schödel
Publikováno v:
American Journal of Transplantation. 20:1410-1416
In light of the organ shortage, there is a great responsibility to assess postmortal organs for which procurement has been consented and to increase the life span of transplanted organs. The former responsibility has moved many centers to accept exte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a27f1aa1e99d4cd38a897502a5cceb6
https://doi.org/10.1111/ajt.15738
https://doi.org/10.1111/ajt.15738
Autor:
Florian J. Wopperer, Karl X. Knaup, Kira J. Stanzick, Karen Schneider, Tilman Jobst-Schwan, Arif B. Ekici, Steffen Uebe, Andrea Wenzel, Stefan Schliep, Carsten Schürfeld, Randolf Seitz, Wanja Bernhardt, Markus Gödel, Antje Wiesener, Bernt Popp, Klaus J. Stark, Hermann-Josef Gröne, Björn Friedrich, Martin Weiß, Nikolina Basic-Jukic, Mario Schiffer, Bernd Schröppel, Bruno Huettel, Bodo B. Beck, John A. Sayer, Christine Ziegler, Maike Büttner-Herold, Kerstin Amann, Iris M. Heid, André Reis, Francesca Pasutto, Michael S. Wiesener
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2575f0e83adf0d5a5ddc111d91231443
Autor:
Cornelia Kraus, Jonghun Park, Karl X. Knaup, André Reis, Mario Schiffer, Arif B. Ekici, Kai-Uwe Eckardt, Steffen Uebe, Heike Meiselbach, Karen Schneider, Michael Wiesener, Vineet Bafna, Bernt Popp
Exome sequencing (ES) studies in chronic kidney disease (CKD) cohorts could identify pathogenic variants in ∼10% of patients. This implies underdiagnosis of hereditary CKD. Tubulointerstitial kidney diseases, showing no typical clinical/histologic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46f7934c1b60e3794322b235ae94e034
https://doi.org/10.1101/2021.09.29.21264100
https://doi.org/10.1101/2021.09.29.21264100
Autor:
Bernt Popp, Markus Schueler, Rannar Airik, Thorsten Wiech, Hannah Schwarz, André Reis, Nasrin Torabi, Johanna Stoeckert, Mario Schiffer, Kerstin Amann, Karl X. Knaup, Michael S. Wiesener
Publikováno v:
Human molecular genetics. 31(9)
Nephronophthisis-related ciliopathies (NPHP-RC) comprises a group of inherited kidney diseases, caused by mutations in genes encoding proteins localizing to primary cilia. NPHP-RC represents one of the most frequent monogenic causes of renal failure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a7f852988285ec658242eedb0d9b9bf
https://pubmed.ncbi.nlm.nih.gov/34740236
https://pubmed.ncbi.nlm.nih.gov/34740236