Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome

Autor: Araki, Yoshinori, Nagaoka, Yoshinobu, Okamoto, Takayuki, Sato, Yasuyuki, Hayashi, Asako, Takahashi, Toshiyuki, Aoyagi, Hayato, Ueno, Michihiko, Nakanishi, Masanori, Toita, Nariaki, Uetake, Kimiaki, Kobayashi, Norio, Fujita, Shoji, Tsuruga, Kazushi, Kumagai, Naonori, Kudo, Hiroki, Tanaka, Eriko, Omori, Tae, Okada, Mari, Hatai, Yoshiho, Udagawa, Tomohiro, Motoyoshi, Yaeko, Ishikura, Kenji, Kamei, Koichi, Ogura, Masao, Sato, Mai, Kano, Yuji, Hattori, Motoshi, Miura, Kenichiro, Harita, Yutaka, Kanda, Shoichiro, Sawanobori, Emi, Kobayashi, Anna, Kojika, Manabu, Ohwada, Yoko, Yan, Kunimasa, Hataya, Hiroshi, Hamada, Riku, Terano, Chikako, Harada, Ryoko, Hamasaki, Yuko, Hashimoto, Junya, Ito, Shuichi, Machida, Hiroyuki, Inaba, Aya, Matsuyama, Takeshi, Goto, Miwa, Shimizu, Masaki, Ohta, Kazuhide, Ikezumi, Yohei, Yamada, Takeshi, Suzuki, Toshiaki, Tamamura, Soichi, Mori, Yukiko, Hidaka, Yoshihiko, Matsuoka, Daisuke, Kinoshita, Tatsuya, Noda, Shunsuke, Kitahara, Masashi, Fujita, Naoya, Hibino, Satoshi, Iijima, Kazumoto, Nozu, Kandai, Kaito, Hiroshi, Minamikawa, Shogo, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Nakanishi, Keita, Fujimura, Junya, Sakakibara, Nana, Aoto, Yuya, Ishiko, Shinya, Tanaka, Ryojiro, Kanda, Kyoko, Inaguma, Yosuke, Hashimura, Yuya, Ishimori, Shingo, Kamiyoshi, Naohiro, Shibano, Takayuki, Takeshima, Yasuhiro, Fujimaru, Rika, Ueda, Hiroaki, Ashida, Akira, Matsumura, Hideki, Kubota, Takuo, Kitaoka, Taichi, Okuda, Yusuke, Sawai, Toshihiro, Sakai, Tomoyuki, Shima, Yuko, Hama, Taketsugu, Fujieda, Mikiya, Ishihara, Masayuki, Itoh, Shigeru, Iwaki, Takuma, Shimizu, Maki, Nagatani, Koji, Kagami, Shoji, Urushihara, Maki, Kaku, Yoshitsugu, Nishimura, Manao, Yoshino, Miwa, Hatae, Ken, Hinokiyama, Maiko, Kuroki, Rie, Ohtsuka, Yasufumi, Oka, Masafumi, Nishimura, Shinji, Sato, Tadashi, Tanaka, Seiji, Zaitsu, Ayuko, Nakazato, Hitoshi, Tamura, Hiroshi, Nakanishi, Koichi, Cho, Min Hyun, Ha, Tae-Sun, Cheong, Hae Il, Kang, Hee Gyung, Ha, Il-Soo, Kim, Ji Hyun, Park, Peong Gang, Cho, Myung Hyun, Han, Kyoung Hee, Yang, Eun Mi, Quiroga, Alejandro, Moudgil, Asha, Chavers, Blanche, Kwon, Charles, Bowers, Corinna, Gipson, Deb, Chand, Deepa, Weaver, Donald Jack, Abraham, Elizabeth, Janjua, Halima, Lin, Jen-Jar, Greenbaum, Larry, Kallash, Mahmoud, Rheault, Michelle, De Jeus Gonzalez, Nilka, Brophy, Patrick, Gbadegesin, Rasheed, Nagaraj, Shashi, Massengill, Susan, Srivastava, Tarak, Hunley, Tray, Cai, Yi, Omoloja, Abiodun, Silva, Cynthia, Adeyemo, Adebowale, Thalgahagoda, Shenal, Kari, Jameela A., El Desoky, Sherif, Abdelhadi, Mohammed, Akil, Rachida, Azib, Sonia, Basmaci, Romain, Benoist, Gregoire, Bensaid, Philippe, Blanc, Philippe, Boyer, Olivia, Bucher, Julie, Chace, Anne, Chalvon, Arnaud, Cheminee, Marion, Chendjou, Sandrine, Daoud, Patrick, Deschênes, Georges, Dossier, Claire, Elias, Ossam, Gagliadone, Chantal, Gajdos, Vincent, Galerne, Aurélien, Aigrain, Evelyne Jacqz, Sanchez, Lydie Joly, Khaled, Mohamed, Khelfaoui, Fatima, Laoudi, Yacine, Larakeb, Anis, Limani, Tarek, Mahdi, Fouad, Mandelcwaijg, Alexis, Muller, Stephanie, Nacer, Kacem, Nathanson, Sylvie, Pellegrino, Béatrice, Pharaon, Isabelle, Roudault, Véronica, Rouget, Sébastien, Saf, Marc, Simon, Tabassom, Tahiri, Cedric, Ulinski, Tim, Zenkhri, Férielle, Jia, Xiaoyuan, McNulty, Michelle T., Song, Kyuyong, Hitomi, Yuki, Lee, Dongwon, Aiba, Yoshihiro, Khor, Seik-Soon, Ueno, Kazuko, Kawai, Yosuke, Nagasaki, Masao, Noiri, Eisei, Baek, Jiwon, Abeyagunawardena, Asiri, Lane, Brandon, Chryst-Stangl, Megan, Esezobor, Christopher, Solarin, Adaobi, Vivarelli, Marina, Debiec, Hanna, Matsuo, Masafumi, Ronco, Pierre, Sampson, Matthew G., Tokunaga, Katsushi

Publikováno v: In Kidney International November 2020 98(5):1308-1322

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene

Autor: Kaito Hiroshi, Hashimura Yuya, Miwa Akihiro, Morioka Ichiro, Yokoyama Naoki, Nozu Kandai, Kanda Kyoko, Iijima Kazumoto, Matsuo Masafumi

Publikováno v: BMC Nephrology, Vol 10, Iss 1, p 37 (2009)

Abstract Background Autosomal dominant pseudohypoaldosteronism type 1 (PHA1) is a rare inherited condition that is characterized by renal resistance to aldosterone as well as salt wasting, hyperkalemia, and metabolic acidosis. Renal PHA1 is caused by

Externí odkaz: https://doaj.org/article/1fe58a73de16401bbb22bb63da8538cb

Common risk variants in NPHS1and TNFSF15are associated with childhood steroid-sensitive nephrotic syndrome

Autor: Jia, Xiaoyuan, Yamamura, Tomohiko, Gbadegesin, Rasheed, McNulty, Michelle T., Song, Kyuyong, Nagano, China, Hitomi, Yuki, Lee, Dongwon, Aiba, Yoshihiro, Khor, Seik-Soon, Ueno, Kazuko, Kawai, Yosuke, Nagasaki, Masao, Noiri, Eisei, Horinouchi, Tomoko, Kaito, Hiroshi, Hamada, Riku, Okamoto, Takayuki, Kamei, Koichi, Kaku, Yoshitsugu, Fujimaru, Rika, Tanaka, Ryojiro, Shima, Yuko, Araki, Yoshinori, Nagaoka, Yoshinobu, Okamoto, Takayuki, Sato, Yasuyuki, Hayashi, Asako, Takahashi, Toshiyuki, Aoyagi, Hayato, Ueno, Michihiko, Nakanishi, Masanori, Toita, Nariaki, Uetake, Kimiaki, Kobayashi, Norio, Fujita, Shoji, Tsuruga, Kazushi, Kumagai, Naonori, Kudo, Hiroki, Tanaka, Eriko, Omori, Tae, Okada, Mari, Hatai, Yoshiho, Udagawa, Tomohiro, Motoyoshi, Yaeko, Ishikura, Kenji, Kamei, Koichi, Ogura, Masao, Sato, Mai, Kano, Yuji, Hattori, Motoshi, Miura, Kenichiro, Harita, Yutaka, Kanda, Shoichiro, Sawanobori, Emi, Kobayashi, Anna, Kojika, Manabu, Ohwada, Yoko, Yan, Kunimasa, Hataya, Hiroshi, Hamada, Riku, Terano, Chikako, Harada, Ryoko, Hamasaki, Yuko, Hashimoto, Junya, Ito, Shuichi, Machida, Hiroyuki, Inaba, Aya, Matsuyama, Takeshi, Goto, Miwa, Shimizu, Masaki, Ohta, Kazuhide, Ikezumi, Yohei, Yamada, Takeshi, Suzuki, Toshiaki, Tamamura, Soichi, Mori, Yukiko, Hidaka, Yoshihiko, Matsuoka, Daisuke, Kinoshita, Tatsuya, Noda, Shunsuke, Kitahara, Masashi, Fujita, Naoya, Hibino, Satoshi, Iijima, Kazumoto, Nozu, Kandai, Kaito, Hiroshi, Minamikawa, Shogo, Yamamura, Tomohiko, Nagano, China, Horinouchi, Tomoko, Nakanishi, Keita, Fujimura, Junya, Sakakibara, Nana, Aoto, Yuya, Ishiko, Shinya, Tanaka, Ryojiro, Kanda, Kyoko, Inaguma, Yosuke, Hashimura, Yuya, Ishimori, Shingo, Kamiyoshi, Naohiro, Shibano, Takayuki, Takeshima, Yasuhiro, Fujimaru, Rika, Ueda, Hiroaki, Ashida, Akira, Matsumura, Hideki, Kubota, Takuo, Kitaoka, Taichi, Okuda, Yusuke, Sawai, Toshihiro, Sakai, Tomoyuki, Shima, Yuko, Hama, Taketsugu, Fujieda, Mikiya, Ishihara, Masayuki, Itoh, Shigeru, Iwaki, Takuma, Shimizu, Maki, Nagatani, Koji, Kagami, Shoji, Urushihara, Maki, Kaku, Yoshitsugu, Nishimura, Manao, Yoshino, Miwa, Hatae, Ken, Hinokiyama, Maiko, Kuroki, Rie, Ohtsuka, Yasufumi, Oka, Masafumi, Nishimura, Shinji, Sato, Tadashi, Tanaka, Seiji, Zaitsu, Ayuko, Nakazato, Hitoshi, Tamura, Hiroshi, Nakanishi, Koichi, Baek, Jiwon, Kang, Hee Gyung, Ha, Il-Soo, Han, Kyoung Hee, Yang, Eun Mi, Cho, Min Hyun, Ha, Tae-Sun, Cheong, Hae Il, Kang, Hee Gyung, Ha, Il-Soo, Kim, Ji Hyun, Park, Peong Gang, Cho, Myung Hyun, Han, Kyoung Hee, Yang, Eun Mi, Abeyagunawardena, Asiri, Lane, Brandon, Chryst-Stangl, Megan, Esezobor, Christopher, Solarin, Adaobi, Quiroga, Alejandro, Moudgil, Asha, Chavers, Blanche, Kwon, Charles, Bowers, Corinna, Gipson, Deb, Chand, Deepa, Weaver, Donald Jack, Abraham, Elizabeth, Janjua, Halima, Lin, Jen-Jar, Greenbaum, Larry, Kallash, Mahmoud, Rheault, Michelle, De Jeus Gonzalez, Nilka, Brophy, Patrick, Gbadegesin, Rasheed, Nagaraj, Shashi, Massengill, Susan, Srivastava, Tarak, Hunley, Tray, Cai, Yi, Omoloja, Abiodun, Silva, Cynthia, Adeyemo, Adebowale, Thalgahagoda, Shenal, Kari, Jameela A., El Desoky, Sherif, Dossier, Claire, Deschênes, Georges, Abdelhadi, Mohammed, Akil, Rachida, Azib, Sonia, Basmaci, Romain, Benoist, Gregoire, Bensaid, Philippe, Blanc, Philippe, Boyer, Olivia, Bucher, Julie, Chace, Anne, Chalvon, Arnaud, Cheminee, Marion, Chendjou, Sandrine, Daoud, Patrick, Deschênes, Georges, Dossier, Claire, Elias, Ossam, Gagliadone, Chantal, Gajdos, Vincent, Galerne, Aurélien, Aigrain, Evelyne Jacqz, Sanchez, Lydie Joly, Khaled, Mohamed, Khelfaoui, Fatima, Laoudi, Yacine, Larakeb, Anis, Limani, Tarek, Mahdi, Fouad, Mandelcwaijg, Alexis, Muller, Stephanie, Nacer, Kacem, Nathanson, Sylvie, Pellegrino, Béatrice, Pharaon, Isabelle, Roudault, Véronica, Rouget, Sébastien, Saf, Marc, Simon, Tabassom, Tahiri, Cedric, Ulinski, Tim, Zenkhri, Férielle, Vivarelli, Marina, Debiec, Hanna, Ishikura, Kenji, Matsuo, Masafumi, Nozu, Kandai, Ronco, Pierre, Cheong, Hae Il, Sampson, Matthew G., Tokunaga, Katsushi, Iijima, Kazumoto

Publikováno v: Kidney International; November 2020, Vol. 98 Issue: 5 p1308-1322, 15p

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