Tumor microenvironment‐dependent epigenetic imprinting in the vasculature predicts colon cancer outcome

Autor: Elisabeth Naschberger, Maximilian Fuchs, Nicholas Dickel, Meik Kunz, Bernt Popp, Charles Gwellem Anchang, Richard Demmler, Yanmin Lyu, Steffen Uebe, Arif Bülent Ekici, Carol Immanuel Geppert, Arndt Hartmann, Christian Flierl, Katja Petter, Tobias Gass, Simon Völkl, Michael Scharl, Andreas Ramming, Claudia Günther, Susanne Merkel, Vera Simone Schellerer, Michael Stürzl

Publikováno v: Cancer Communications, Vol 43, Iss 11, Pp 1280-1285 (2023)

Externí odkaz: https://doaj.org/article/b5897fea14a54e958b01f425353926f6

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Autor: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi

Externí odkaz: https://doaj.org/article/47a113198d5649e88315ddec99f2067f

Phenotype-tissue expression and exploration (PTEE) resource facilitates the choice of tissue for RNA-seq-based clinical genetics studies

Autor: Akhil Velluva, Maximillian Radtke, Susanne Horn, Bernt Popp, Konrad Platzer, Erind Gjermeni, Chen-Ching Lin, Johannes R. Lemke, Antje Garten, Torsten Schöneberg, Matthias Blüher, Rami Abou Jamra, Diana Le Duc

Publikováno v: BMC Genomics, Vol 22, Iss 1, Pp 1-9 (2021)

Abstract Background RNA-seq emerges as a valuable method for clinical genetics. The transcriptome is “dynamic” and tissue-specific, but typically the probed tissues to analyze (TA) are different from the tissue of interest (TI) based on pathophys

Externí odkaz: https://doaj.org/article/ac3037e353d248199606be6e0d9be1b9

Breast MRI texture analysis for prediction of BRCA-associated genetic risk

Autor: Georgia Vasileiou, Maria J. Costa, Christopher Long, Iris R. Wetzler, Juliane Hoyer, Cornelia Kraus, Bernt Popp, Julius Emons, Marius Wunderle, Evelyn Wenkel, Michael Uder, Matthias W. Beckmann, Sebastian M. Jud, Peter A. Fasching, Alexander Cavallaro, André Reis, Matthias Hammon

Publikováno v: BMC Medical Imaging, Vol 20, Iss 1, Pp 1-13 (2020)

Abstract Background BRCA1/2 deleterious variants account for most of the hereditary breast and ovarian cancer cases. Prediction models and guidelines for the assessment of genetic risk rely heavily on criteria with high variability such as family can

Externí odkaz: https://doaj.org/article/5e14d0b00d1249af9a862faab333192c

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

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