Early relapse rate determines further relapse risk: results of a 5-year follow-up study on pediatric CFH-Ab HUS

Autor: Gerard Cortina, Reinhard Würzner, Markus Perl, Alejandra Rosales, Thomas Giner, Johannes Hofer, Siegfied Waldegger, Therese Jungraithmayr, Magdalena Riedl Khursigara

Publikováno v: Pediatric Nephrology (Berlin, Germany)

Background The complement factor H antibody (CFH-Ab)–associated hemolytic uremic syndrome (HUS) forms a distinct subgroup within the complement-mediated HUS disease spectrum. The autoimmune nature of this HUS subgroup implies the potential benefit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f26d5710ce8d196d8eeaa59aa5c880ba
http://europepmc.org/articles/PMC7910231

Novel biomarker and easy to perform ELISA for monitoring complement inhibition in patients with atypical hemolytic uremic syndrome treated with eculizumab

Autor: Magdalena Riedl, Verena Jeller, Reinhard Würzner, Lambert P. van den Heuvel, Günter Weiss, Alejandra Rosales, Tanja Maier, Karsten Häffner, Thomas Giner, Therese Jungraithmayr, Johannes Hofer, Ulrike Walden, Dorothea Heininger, Lothar Bernd Zimmerhackl, Giacomo D. Simonetti

Publikováno v: Journal of Immunological Methods, 435, 60-67
Journal of Immunological Methods, 435, pp. 60-67

Atypical hemolytic uremic syndrome (aHUS) is a devastating disease characterized by thrombus formation in the microvasculature and is associated with complement dysregulation. The recommended treatment is eculizumab, an humanized monoclonal antibody,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4359be348eba088f097c58c9bde4422e
https://doi.org/10.1016/j.jim.2016.05.009

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Autor: Yasuko Kobayashi, Heon Yung Gee, Juergen Strehlau, York Pei, Shigeo Kure, Therese Jungraithmayr, Kirk N. Campbell, Shirlee Shril, Assel Rakhmetova, Weizhen Tan, Henry Fehrenbach, Mohamad Aman Jairajpuri, Amelie T. van der Ven, Sharon Rose Wassmer, Aravind Selvin Kumar, Friedhelm Hildebrandt, Naonori Kumagai, Neveen A. Soliman, Tilman Jobst-Schwan, Shrikant M. Mane, Jennifer A. Lawson, Atsuo Kikuchi, Ankana Daga, Boon Chuan Low, Hildegard Zappel, Denny Schanze, Martin Zenker, Svjetlana Lovric, Sherif El Desoky, Natasa Stajic, Kandai Nozu, Lewis Kaufman, Jameela A. Kari, Hiroki Kudo, Carolin E. Sadowski, Hiroyasu Tsukaguchi, Jenny Wong, Takumi Takizawa, Jillian K. Warejko, Kazumoto Iijima, Kay Metcalfe, David Schapiro, Daniela A. Braun, Johanna Magdalena Schmidt, Tobias Hermle, Brajendra K. Tripathi, Hiroshi Kaito, Eugen Widmeier, Radovan Bogdanovic, Merlin Airik, Douglas R. Lowy, Keiko Nakayama, Werner L. Pabst, Ryo Funayama, Arvind Bagga, Amar J. Majmundar, Ryojiro Tanaka, Richard P. Lifton, Tetsuya Niihori, Jia Rao, Kiyoshi Hamahira, Sawsan M Jalalah, Yoko Aoki, Anjali Gupta, Shazia Ashraf

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nature Communications
Ashraf, S, Kudo, H, Rao, J, Kikuchi, A, Widmeier, E, Lawson, J A, Tan, W, Hermle, T, Warejko, J K, Shril, S, Airik, M, Jobst-Schwan, T, Lovric, S, Braun, D A, Gee, H Y, Schapiro, D, Majmundar, A J, Sadowski, C E, Pabst, W L, Daga, A, Van Der Ven, A T, Schmidt, J M, Low, B C, Gupta, A B, Tripathi, B K, Wong, J, Campbell, K, Metcalfe, K, Schanze, D, Niihori, T, Kaito, H, Nozu, K, Tsukaguchi, H, Tanaka, R, Hamahira, K, Kobayashi, Y, Takizawa, T, Funayama, R, Nakayama, K, Aoki, Y, Kumagai, N, Iijima, K, Fehrenbach, H, Kari, J A, El Desoky, S, Jalalah, S, Bogdanovic, R, Stajić, N, Zappel, H, Rakhmetova, A, Wassmer, S R, Jungraithmayr, T, Strehlau, J, Kumar, A S, Bagga, A, Soliman, N A, Mane, S M, Kaufman, L, Lowy, D R, Jairajpuri, M A, Lifton, R P, Pei, Y, Zenker, M, Kure, S & Hildebrandt, F 2018, ' Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ', Nature Communications, vol. 9, no. 1, 1960 . https://doi.org/10.1038/s41467-018-04193-w
Ashraf, S, Kudo, H, Rao, J, Kikuchi, A, Widmeier, E, Lawson, J A, Tan, W, Hermle, T, Warejko, J K, Shril, S, Airik, M, Jobst-Schwan, T, Lovric, S, Braun, D A, Gee, H Y, Schapiro, D, Majmundar, A J, Sadowski, C E, Pabst, W L, Daga, A, Van Der Ven, A T, Schmidt, J M, Low, B C, Gupta, A B, Tripathi, B K, Wong, J, Campbell, K, Metcalfe, K, Schanze, D, Niihori, T, Kaito, H, Nozu, K, Tsukaguchi, H, Tanaka, R, Hamahira, K, Kobayashi, Y, Takizawa, T, Funayama, R, Nakayama, K, Aoki, Y, Kumagai, N, Iijima, K, Fehrenbach, H, Kari, J A, El Desoky, S, Jalalah, S, Bogdanovic, R, Stajić, N, Zappel, H & Rakhmetova, A 2018, ' Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment ', Nature Communications, vol. 9, 1960 . https://doi.org/10.1038/s41467-018-04193-w

No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ec1a4bdf4207f4f2354614db43fc05b
https://doi.org/10.1038/s41467-018-04193-w

Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1

Autor: Giuseppina Spartà, Carsten Bergmann, Markus J. Kemper, Thomas Neuhaus, Thomas Fehr, Markus Feldkötter, Simone Wygoda, Kirsten Timmermann, Hagen Staude, Marcus R. Benz, Martin Pohl, Therese Jungraithmayr, Jun Oh, Birgitta Kranz, Claartje Karnatz, Anja Lehnhardt, Dominik N. Müller, Martin Konrad, Anja Büscher, Kerstin Benz, Klemens Budde, Thurid Ahlenstiel-Grunow, Reinhard Schneppenheim, Uwe Querfeld, Günter Klaus, Lars Pape, Brigitte Royer-Pokora, Norbert Graf, Carmen Montoya, Birgit Koehler, Britta Höcker, Frauke Wilkening

Publikováno v: Clinical Journal of the American Society of Nephrology. 10:825-831

Background and objectives The Wilms tumor suppressor gene 1 ( WT1 ) plays an essential role in urogenital and kidney development. Genotype/phenotype correlations of WT1 mutations with renal function and proteinuria have been observed in world-wide co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d255773527c3fb5c615c5f66d2d5288
https://doi.org/10.2215/cjn.10141014

Protection of Human Podocytes from Shiga Toxin 2-Induced Phosphorylation of Mitogen-Activated Protein Kinases and Apoptosis by Human Serum Amyloid P Component

Autor: Markus J. Kemper, Friederike R. Greiner, Mark B. Pepys, Moin A. Saleem, Max C. Liebau, Anne Katrin Dettmar, Claus-Peter Schmitt, Jun Oh, Reinhard Würzner, Elisabeth Feifel, Dorothea Orth-Höller, Christine Kurschat, Elisabeth Binder, Therese Jungraithmayr

Publikováno v: Infection and Immunity. 82:1872-1879

Hemolytic uremic syndrome (HUS) is mainly induced by Shiga toxin 2 (Stx2)-producing Escherichia coli . Proteinuria can occur in the early phase of the disease, and its persistence determines the renal prognosis. Stx2 may injure podocytes and induce p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c47e5d5e3be4063bc9e13a46001796
https://doi.org/10.1128/iai.01591-14