Universität zu Köln

Journal Article

Keil, Philipp, Wulf, Alexander, Kachariya, Nitin, Reuscher, Samira, Huhn, Kristin, Silbern, Ivan, Altmuller, Janine ORCID: 0000-0003-4372-1521, Keller, Mario, Stehle, Ralf, Zarnack, Kathi ORCID: 0000-0003-3527-3378, Sattler, Michael ORCID: 0000-0002-1594-0527, Urlaub, Henning and Straesser, Katja (2023). Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA. Nucleic Acids Res., 51 (2). S. 831 - 852. OXFORD: OXFORD UNIV PRESS. ISSN 1362-4962

Leenen, Esther, Erger, Florian, Altmuller, Janine ORCID: 0000-0003-4372-1521, Wenzel, Andrea, Thiele, Holger, Harth, Ana ORCID: 0000-0002-1551-9214, Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Lokhande, Shanti, Joerres, Achim, Becker, Jan-Ulrich, Ekici, Arif, Huettel, Bruno, Beck, Bodo and Weidemann, Alexander (2022). Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis. Nephrol. Dial. Transplant., 37 (10). S. 1895 - 1906. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2385

Breiderhoff, Tilman ORCID: 0000-0002-1676-7498, Himmerkus, Nina ORCID: 0000-0002-2910-6728, Meoli, Luca ORCID: 0000-0002-9853-2624, Fromm, Anja, Sewerin, Sebastian ORCID: 0000-0002-9094-9636, Kriuchkova, Natalia ORCID: 0000-0002-9795-2440, Nagel, Oliver ORCID: 0000-0003-1434-726X, Ladilov, Yury ORCID: 0000-0002-9836-8801, Krug, Susanne M., Quintanova, Catarina ORCID: 0000-0001-6617-2006, Stumpp, Meike ORCID: 0000-0001-7765-2996, Garbe-Schoenberg, Dieter, Westernstroeer, Ulrike, Merkel, Cosima, Brinkhus, Merle Annette, Altmuller, Janine ORCID: 0000-0003-4372-1521, Schweiger, Michal R., Muller, Dominik, Mutig, Kerim, Morawski, Markus, Halbritter, Jan ORCID: 0000-0002-1377-9880, Milatz, Susanne ORCID: 0000-0001-9893-0473, Bleich, Markus ORCID: 0000-0002-1745-2295 and Guenzel, Dorothee (2022). Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution. J. Am. Soc. Nephrol., 33 (4). S. 699 - 718. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450

Asif, Maria, Kaygusuz, Emrah, Shinawi, Marwan, Nickelsen, Anna, Hsieh, Tzung-Chien, Wagle, Prerana, Budde, Birgit S., Hochscherf, Jennifer ORCID: 0000-0002-4412-7391, Abdullah, Uzma, Honing, Stefan, Nienberg, Christian, Lindenblatt, Dirk, Noegel, Angelika A., Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Motameny, Susanne, Fleischer, Nicole, Segal, Idan, Pais, Lynn, Tinschert, Sigrid, Samra, Nadra Nasser, Savatt, Juliann M., Rudy, Natasha L., De Luca, Chiara, Fortugno, Paola, White, Susan M., Krawitz, Peter, Hurst, Anna C. E., Niefind, Karsten ORCID: 0000-0002-0183-6315, Jose, Joachim ORCID: 0000-0002-0666-2676, Brancati, Francesco, Nurnberg, Peter and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2022). De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway. Hum. Genet. Genom. Adv., 3 (3). AMSTERDAM: ELSEVIER. ISSN 2666-2477

Braun, Till, Glass, Markus ORCID: 0000-0003-2718-8907, Wahnschaffe, Linus, Otte, Moritz, Mayer, Petra, Franitza, Marek, Altmuller, Janine ORCID: 0000-0003-4372-1521, Hallek, Michael ORCID: 0000-0002-7425-4455, Huttelmaier, Stefan, Schrader, Alexandra and Herling, Marco (2022). Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways. Haematologica, 107 (1). S. 187 - 201. PAVIA: FERRATA STORTI FOUNDATION. ISSN 0390-6078

Wong, Keit Men ORCID: 0000-0002-5449-6318, Jepsen, Wayne M., Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmuller, Janine ORCID: 0000-0003-4372-1521, Thiele, Holger, Nurnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Karimiani, Ehsan Ghayoor, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gartner, Jutta, Maroofian, Reza and Huppke, Peter (2022). Mutations in TAF8 cause a neurodegenerative disorder. Brain, 145 (9). S. 3022 - 3035. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Talyan, Sweta ORCID: 0000-0002-7160-6742, Filipow, Samantha ORCID: 0000-0002-9290-1273, Ignarski, Michael ORCID: 0000-0001-6057-7694, Smieszek, Magdalena, Chen, He ORCID: 0000-0002-7616-8438, Kuehne, Lucas, Butt, Linus, Gobel, Heike, Hoyer-Allo, K. Johanna R., Koehler, Felix C., Altmuller, Janine ORCID: 0000-0003-4372-1521, Brinkkoeter, Paul, Schermer, Bernhard, Benzing, Thomas, Kann, Martin ORCID: 0000-0003-2956-1699, Mueller, Roman-Ulrich and Dieterich, Christoph (2021). CALINCA-A Novel Pipeline for the Identification of lncRNAs in Podocyte Disease. Cells, 10 (3). BASEL: MDPI. ISSN 2073-4409

Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm and Sanna-Cherchi, Simone (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am. J. Hum. Genet., 108 (2). S. 357 - 368. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Augustin, Max ORCID: 0000-0002-2300-9337, Schommers, Philipp Frederik ORCID: 0000-0003-3375-6800, Stecher, Melanie, Dewald, Felix, Gieselmann, Lutz ORCID: 0000-0003-3699-3318, Grüll, Henning ORCID: 0000-0002-0725-7138, Horn, Carola, Vanshylla, Kanika ORCID: 0000-0003-4552-9170, Cristanziano, Veronica Di ORCID: 0000-0003-1604-8386, Osebold, Luise, Roventa, Maria, Riaz, Toqeer, Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Altmueller, Janine ORCID: 0000-0003-4372-1521, Rose, Leonard, Salomon, Susanne ORCID: 0000-0002-5143-2351, Priesner, Vanessa, Luers, Jan Christoffer, Albus, Christian ORCID: 0000-0002-4033-887X, Rosenkranz, Stephan, Gathof, Birgit, Fätkenheuer, Gerd ORCID: 0000-0002-5054-1871, Hallek, Michael ORCID: 0000-0002-7425-4455, Klein, Florian ORCID: 0000-0003-1376-1792, Suarez, Isabelle ORCID: 0000-0002-9863-9675 and Lehmann, Clara ORCID: 0000-0002-7042-1578 (2021). Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study. The Lancet Regional Health - Europe, 6. p. 100122. Elsevier. ISSN 2666-7762

Lima Cunha, Dulce ORCID: 0000-0002-6814-8365, Oram, Amanda, Gruber, Robert, Plank, Roswitha, Lingenhel, Arno, Gupta, Manoj K., Altmuller, Janine ORCID: 0000-0003-4372-1521, Nurnberg, Peter ORCID: 0000-0002-7228-428X, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Zschocke, Johannes ORCID: 0000-0002-0046-8274, Saric, Tomo, Eckl, Katja M. and Hennies, Hans C. (2021). hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers. Int. J. Mol. Sci., 22 (4). BASEL: MDPI. ISSN 1422-0067