Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Sharon Rose Wassmer"'
Autor:
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A. Braun, Heon Yung Gee, David Schapiro, Amar J. Majmundar, Carolin E. Sadowski, Werner L. Pabst, Ankana Daga, Amelie T. van der Ven, Johanna M. Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K. Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A. Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A. Soliman, Shrikant M. Mane, Lewis Kaufman, Douglas R. Lowy, Mohamad A. Jairajpuri, Richard P. Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation
Externí odkaz:
https://doaj.org/article/5fa7365ce28f4895a98f2773a190db3e
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
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