Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2024

A

Advani, Jayshree and Mehta, Puja A. and Hamel, Andrew R. and Mehrotra, Sudeep and Kiel, Christina and Strunz, Tobias and Corso-Diaz, Ximena and Kwicklis, Madeline and van Asten, Freekje and Ratnapriya, Rinki and Chew, Emily Y. and Hernandez, Dena G. and Montezuma, Sandra R. and Ferrington, Deborah A. and Weber, Bernhard H. F. and Segre, Ayellet V. and Swaroop, Anand (2024) QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration. NATURE COMMUNICATIONS, 15 (1): 1972. ISSN 2041-1723

B

Baumann, Alexandra and Ruckert, Christian and Meier, Christoph and Hutschenreiter, Tim and Remy, Robert and Schnur, Benedikt and Doebel, Marvin and Fankep, Rudel Christian Nkouamedjo and Skowronek, Dariush and Kutz, Oliver and Arnold, Norbert and Katzke, Anna-Lena and Forster, Michael and Kobiela, Anna-Lena and Thiedig, Katharina and Zimmer, Andreas and Ritter, Julia and Weber, Bernhard H. F. and Honisch, Ellen and Hackmann, Karl and Schmidt, Gunnar and Sturm, Marc and Ernst, Corinna and Arnold, Norbert and Baumann, Alexandra and Dobel, Marvin and Drukewitz, Stephan and Engel, Christoph and Ernst, Corinna and Fankep, Rudel Christian Nkouamedjo and Forster, Michael and Frommolt, Peter and Gross, Eva and Hackmann, Karl and Helmuth, Johannes and Honisch, Ellen and Hutschenreiter, Tim and Katzke, Anna-Lena and Kobiela, Anna-Lena and Kowalzyk, Zarah and Kutz, Oliver and Meier, Christoph and Radtke, Maximilian and Ramser, Juliane and Remy, Robert and Ritter, Julia and Ruckert, Christian and Schmidt, Gunnar and Schnur, Benedikt and Skowronek, Dariush and Sturm, Marc and Thiedig, Katharina and Uebe, Steffen and Wang-Gohrke, Shan and Zimmer, Andreas (2024) Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci. EUROPEAN JOURNAL OF HUMAN GENETICS, 32 (8). pp. 987-997. ISSN 1018-4813, 1476-5438

Bolsinger, Magdalena M. and Drobny, Alice and Wilfling, Sibylle and Reischl, Stephanie and Krach, Florian and Moritz, Raul and Balta, Denise and Hehr, Ute and Sock, Elisabeth and Bleibaum, Florian and Hanses, Frank and Winner, Beate and Huarcaya, Susy Prieto and Arnold, Philipp and Zunke, Friederike (2024) SARS-CoV-2 Spike Protein Induces Time-Dependent CTSL Upregulation in HeLa Cells and Alveolarspheres. JOURNAL OF CELLULAR BIOCHEMISTRY, 125 (9). ISSN 0730-2312, 1097-4644

C

Cardon, Iseline and Grobecker, Sonja and Kuecuekoktay, Selin and Bader, Stefanie and Jahner, Tatjana and Nothdurfter, Caroline and Koschitzki, Kevin and Berneburg, Mark and Weber, Bernhard H. F. and Stoehr, Heidi and Hoering, Marcus and Liebisch, Gerhard and Braun, Frank and Rothammer-Hampl, Tanja and Riemenschneider, Markus J. and Rupprecht, Rainer and Milenkovic, Vladimir M. and Wetzel, Christian H. (2024) Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 25 (2): 963. ISSN 1661-6596, 1422-0067

D

Dobert, Jan Philipp and Bub, Simon and Maechtel, Rebecca and Januliene, Dovile and Steger, Lisa and Regensburger, Martin and Wilfling, Sibylle and Chen, Jia-Xuan and Dejung, Mario and Ploetz, Sonja and Hehr, Ute and Moeller, Arne and Arnold, Philipp and Zunke, Friederike (2024) Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2-Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease. ADVANCED SCIENCE, 11 (25). ISSN 2198-3844

H

Hitti-Malin, Rebekkah J. and Panneman, Daan M. and Corradi, Zelia and Boonen, Erica G. M. and Astuti, Galuh and Dhaenens, Claire-Marie and Stoehr, Heidi and Weber, Bernhard H. F. and Sharon, Dror and Banin, Eyal and Karali, Marianthi and Banfi, Sandro and Ben-Yosef, Tamar and Glavac, Damjan and Farrar, G. Jane and Ayuso, Carmen and Liskova, Petra and Dudakova, Lubica and Vajter, Marie and Oldak, Monika and Szaflik, Jacek P. and Matynia, Anna and Gorin, Michael B. and Kaempjaervi, Kati and Bauwens, Miriam and De Baere, Elfride and Hoyng, Carel B. and Li, Catherina H. Z. and Klaver, Caroline C. W. and Inglehearn, Chris F. and Fujinami, Kaoru and Rivolta, Carlo and Allikmets, Rando and Zernant, Jana and Lee, Winston and Podhajcer, Osvaldo L. and Fakin, Ana and Sajovic, Jana and Altalbishi, Alaa and Valeina, Sandra and Taurina, Gita and Vincent, Andrea L. and Roberts, Lisa and Ramesar, Raj and Sartor, Giovanna and Luppi, Elena and Downes, Susan M. and van den Born, L. Ingeborgh and Mclaren, Terri L. and De Roach, John N. and Lamey, Tina M. and Thompson, Jennifer A. and Chen, Fred K. and Tracewska, Anna M. and Kamakari, Smaragda and Sallum, Juliana Maria Ferraz and Bolz, Hanno J. and Kayserili, Huelya and Roosing, Susanne and Cremers, Frans P. M. (2024) Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. BIOMOLECULES, 14 (3): 367. ISSN , 2218-273X

K

Kiel, Christina and Biasella, Fabiola and Stoehr, Heidi and Rating, Philipp and Spital, Georg and Kellner, Ulrich and Hufendiek, Karsten and Huchzermeyer, Cord and Jaegle, Herbert and Ruether, Klaus and Weber, Bernhard H. F. (2024) 18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies. SCIENTIFIC REPORTS, 14 (1): 25529. ISSN 2045-2322

M

Maechtel, Rebecca and Dobert, Jan-Philipp and Hehr, Ute and Weiss, Alexander and Kettwig, Matthias and Laugwitz, Lucia and Groeschel, Samuel and Schmidt, Manuel and Arnold, Philipp and Regensburger, Martin and Zunke, Friederike (2024) Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D. ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 11 (7). pp. 1715-1731. ISSN 2328-9503,

P

Pfaller, Anna M. and Kaplan, Lew and Carido, Madalena and Grassmann, Felix and Diaz-Lezama, Nundehui and Ghaseminejad, Farhad and Wunderlich, Kirsten A. and Glaenzer, Sarah and Bludau, Oliver and Pannicke, Thomas and Weber, Bernhard H. F. and Koch, Susanne F. and Bonev, Boyan and Hauck, Stefanie M. and Grosche, Antje (2024) The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice. JOURNAL OF NEUROINFLAMMATION, 21 (1): 33. ISSN , 1742-2094

Proepper, Christiane R. and Schuetz, Sofia M. and Schwarz, Lisa-Maria and von Au, Katja and Bast, Thomas and Beaud, Nathalie and Borggraefe, Ingo and Bosch, Friedrich and Budde, Joerg and Busse, Melanie and Chung, Jena and Debus, Otfried and Diepold, Katharina and Fries, Thomas and von Gersdorff, Gero and Haeussler, Martin and Hahn, Andreas and Hartlieb, Till and Heiming, Ralf and Herkenrath, Peter and Kluger, Gerhard and Kreth, Jonas H. and Kurlemann, Gerhard and Moeller, Peter and Morris-Rosendahl, Deborah J. and Panzer, Axel and Philippi, Heike and Ruegner, Sophia and Toepfer, Carolina and Vieker, Silvia and Wiemer-Kruel, Adelheid and Winter, Anika and Schuierer, Gerhard and Hehr, Ute and Geis, Tobias (2024) Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients. NEUROPEDIATRICS, 55 (06). pp. 410-419. ISSN 0174-304X, 1439-1899

S

Schmidt, Axel and Casadei, Nicolas and Brand, Fabian and Demidov, German and Vojgani, Elaheh and Abolhassani, Ayda and Aldisi, Rana and Butler-Laporte, Guillaume and Alawathurage, T. Madhusankha and Augustin, Max and Bals, Robert and Bellinghausen, Carla and Berger, Marc Moritz and Bitzer, Michael and Bode, Christian and Boos, Jannik and Brenner, Thorsten and Cornely, Oliver A. and Eggermann, Thomas and Erber, Johanna and Feldt, Torsten and Fuchsberger, Christian and Gagneur, Julien and Goepel, Siri and Haack, Tobias and Haeberle, Helene and Hanses, Frank and Heggemann, Julia and Hehr, Ute and Hellmuth, Johannes C. and Herr, Christian and Hinney, Anke and Hoffmann, Per and Illig, Thomas and Jensen, Bjoern-Erik Ole and Keitel, Verena and Kim-Hellmuth, Sarah and Koehler, Philipp and Kurth, Ingo and Lanz, Anna-Lisa and Latz, Eicke and Lehmann, Clara and Luedde, Tom and Maj, Carlo and Mian, Michael and Miller, Abigail and Muenchhoff, Maximilian and Pink, Isabell and Protzer, Ulrike and Rohn, Hana and Rybniker, Jan and Scaggiante, Federica and Schaffeldt, Anna and Scherer, Clemens and Schieck, Maximilian and Schmidt, Susanne V. and Schommers, Philipp and Spinner, Christoph D. and Vehreschild, Maria J. G. T. and Velavan, Thirumalaisamy P. and Volland, Sonja and Wilfling, Sibylle and Winter, Christof and Richards, J. Brent and Heimbach, Andre and Becker, Kerstin and Ossowski, Stephan and Schultze, Joachim L. and Nuernberg, Peter and Noethen, Markus M. and Motameny, Susanne and Nothnagel, Michael and Riess, Olaf and Schulte, Eva C. and Ludwig, Kerstin U. (2024) Systematic assessment of COVID-19 host genetics using whole genome sequencing data. PLOS PATHOGENS, 20 (12): e1012786. ISSN 1553-7366, 1553-7374

W

Weber, Bernhard H. F. (2024) 20 Years of University Human Genetics in Regensburg. MEDIZINISCHE GENETIK, 36 (4). pp. 261-264. ISSN 0936-5931, 1863-5490