المؤلفون: Schiano, Guglielmo, Lake, Jennifer, Mariniello, Marta, Schaeffer, Céline, Harvent, Marianne, Rampoldi, Luca, Olinger, Eric, Devuyst, Olivier

المصدر: Schiano, Guglielmo; Lake, Jennifer; Mariniello, Marta; Schaeffer, Céline; Harvent, Marianne; Rampoldi, Luca; Olinger, Eric; Devuyst, Olivier (2023). Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease. EMBO Molecular Medicine:e18242.

مصطلحات موضوعية: Institute of Physiology, Center for Microscopy and Image Analysis, 610 Medicine & health, 570 Life sciences, biology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest; info:pmid/37885358; urn:issn:1757-4676

الإتاحة: https://doi.org/10.5167/uzh-23916610.15252/emmm.202318242Test
https://www.zora.uzh.ch/id/eprint/239166Test/
https://www.zora.uzh.ch/id/eprint/239166/1/EMMM_15_e18242.pdfTest

المؤلفون: Consolato, Francesco, De Fusco, Maurizio, Schaeffer, Céline, Pieruzzi, Federico, Scolari, Francesco, Gallieni, Maurizio, Lanzani, Chiara, Feriozzi, Sandro, Rampoldi, Luca

المساهمون: F. Consolato, M. De Fusco, C. Schaeffer, F. Pieruzzi, F. Scolari, M. Gallieni, C. Lanzani, S. Feriozzi, L. Rampoldi

مصطلحات موضوعية: ER stre, Fabry disease, missense mutation, unfolded protein response, α-galactosidase A, Settore MED/14 - Nefrologia, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36345359; info:eu-repo/semantics/altIdentifier/wos/WOS:000903182600017; volume:33; firstpage:1; lastpage:9; numberofpages:9; journal:MOLECULAR GENETICS AND METABOLISM REPORTS; https://hdl.handle.net/2434/950846Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140930213

الإتاحة: https://doi.org/10.1016/j.ymgmr.2022.100926Test
https://hdl.handle.net/2434/950846Test

المؤلفون: Olinger, Eric, Schaeffer, Céline, Cheng, Yurong, Köttgen, Anna, Rampoldi, Luca, Devuyst, Olivier

المصدر: Proceedings of the National Academy of Sciences of the United States of America. - 119, 33 (2022) , e2114734119, ISSN: 1091-6490

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/229087Test

الإتاحة: https://doi.org/10.1073/pnas.2114734119Test
https://freidok.uni-freiburg.de/data/229087Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2290877Test
https://freidok.uni-freiburg.de/dnb/download/229087Test

المؤلفون: Econimo, Laura, Schaeffer, Celine, Zeni, Letizia, Cortinovis, Roberta, Alberici, Federico, Rampoldi, Luca, Scolari, Francesco, Izzi, Claudia

المصدر: Kidney International Reports ; volume 7, issue 11, page 2332-2344 ; ISSN 2468-0249

الإتاحة: https://doi.org/10.1016/j.ekir.2022.08.012Test
https://api.elsevier.com/content/article/PII:S2468024922017119?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024922017119?httpAccept=text/plainTest

المؤلفون: Stsiapanava, Alena, Xu, Chenrui, Brunati, Martina, Zamora-Caballero, Sara, Schaeffer, Céline, Bokhove, Marcel, Han, Ling, Hebert, Hans, Carroni, Marta, Yasumasu, Shigeki, Rampoldi, Luca, Wu, Bin, Jovine, Luca

المصدر: EMBO Journal. 39(24)

مصطلحات موضوعية: cryo-electron microscopy, polymerization, uromodulin, zona pellucida, ZP domain

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-188125Test
https://doi.org/10.15252/embj.2020106807Test

المؤلفون: Schaeffer, Céline, De Fusco, Maurizio, Pasqualetto, Elena, Scolari, Caterina, Izzi, Claudia, Scolari, Francesco, Rampoldi, Luca

المساهمون: Schaeffer, Céline, De Fusco, Maurizio, Pasqualetto, Elena, Scolari, Caterina, Izzi, Claudia, Scolari, Francesco, Rampoldi, Luca

مصطلحات موضوعية: Autosomal dominant tubulointerstitial kidney disease, Mitochondria, Renin, Signal sequence, Trafficking defect

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37283036; info:eu-repo/semantics/altIdentifier/wos/WOS:001036252800005; volume:16; issue:6; journal:DISEASE MODELS & MECHANISMS; https://hdl.handle.net/20.500.11768/159216Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85161208558

الإتاحة: https://doi.org/20.500.11768/159216Test
https://doi.org/10.1242/dmm.049963Test
https://hdl.handle.net/20.500.11768/159216Test

المؤلفون: Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi, Luca

المساهمون: Schaeffer, Céline, Izzi, Claudia, Vettori, Andrea, Pasqualetto, Elena, Cittaro, Davide, Lazarevic, Dejan, Caridi, Gianluca, Gnutti, Barbara, Mazza, Cinzia, Jovine, Luca, Scolari, Francesco, Rampoldi, Luca

مصطلحات موضوعية: ADTKD, zebrafish, genetic disorder, mutation, renin

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31406136; info:eu-repo/semantics/altIdentifier/wos/WOS:000480384500017; volume:9; issue:1; firstpage:11601; lastpage:11609; numberofpages:9; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/11562/999015Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070723222

الإتاحة: https://doi.org/10.1038/s41598-019-48014-6Test
http://hdl.handle.net/11562/999015Test

المؤلفون: Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C, Calado, Joaquim, Torres, Rosa J, Lhotta, Karl, Steubl, Dominik, Gale, Daniel P, Gast, Christine, Gombos, Eva, Ainsworth, Hannah C, Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J, Murray, Susan L, Benson, Katherine A, Cavalleri, Gianpiero L, Devuyst, Olivier

المصدر: Kidd, Kendrah; Vylet’al, Petr; Schaeffer, Céline; Olinger, Eric; Živná, Martina; Hodaňová, Kateřina; Robins, Victoria; Johnson, Emily; Taylor, Abbigail; Martin, Lauren; Izzi, Claudia; Jorge, Sofia C; Calado, Joaquim; Torres, Rosa J; Lhotta, Karl; Steubl, Dominik; Gale, Daniel P; Gast, Christine; Gombos, Eva; Ainsworth, Hannah C; Chen, Ying Maggie; Almeida, Jorge Reis; de Souza, Cintia Fernandes; Silveira, Catarina; Raposeiro, Rita; Weller, Nelson; Conlon, Peter J; Murray, Susan L; Benson, Katherine A; Cavalleri, Gianpiero L; et al; Devuyst, Olivier; et al (2020). Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. ....

مصطلحات موضوعية: Institute of Physiology, 570 Life sciences, biology, 610 Medicine & health, Nephrology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/196982/1/main.pdfTest; info:pmid/32954071; urn:issn:2468-0249

الإتاحة: https://doi.org/10.5167/uzh-19698210.1016/j.ekir.2020.06.029Test
https://www.zora.uzh.ch/id/eprint/196982Test/
https://www.zora.uzh.ch/id/eprint/196982/1/main.pdfTest

المؤلفون: Olinger, Eric, Hofmann, Patrick, Kidd, Kendrah, Dufour, Inès, Belge, Hendrica, Schaeffer, Céline, Kipp, Anne, Bonny, Olivier, Deltas, Constantinos, Demoulin, Nathalie, Fehr, Thomas, Fuster, Daniel G., Gale, Daniel P., Goffin, Eric, Hodaňová, Kateřina, Huynh-Do, Uyen, Kistler, Andreas, Morelle, Johann, Papagregoriou, Gregory, Pirson, Yves, Sandford, Richard, Sayer, John A., Torra, Roser, Venzin, Christina, Venzin, Reto, Vogt, Bruno, Živná, Martina, Greka, Anna, Dahan, Karin, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J., Devuyst, Olivier

المساهمون: Fonds National de la Recherche Luxembourg, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Ministry of Health, National Science Foundation, National Centre of Competence in Research, American Society of Nephrology

المصدر: Kidney International ; volume 98, issue 3, page 717-731 ; ISSN 0085-2538

الإتاحة: https://doi.org/10.1016/j.kint.2020.04.038Test
https://api.elsevier.com/content/article/PII:S0085253820305391?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0085253820305391?httpAccept=text/plainTest

المؤلفون: Schaeffer, Céline, Olinger, Eric

المساهمون: Kidney Research UK, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

المصدر: Kidney International ; volume 98, issue 6, page 1397-1400 ; ISSN 0085-2538

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.kint.2020.08.013Test
https://api.elsevier.com/content/article/PII:S0085253820309777?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0085253820309777?httpAccept=text/plainTest