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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