An infant with A20 haploinsufficiency presenting with periodic fever syndrome: A case report.

Autor: Wakatsuki, Ryosuke¹ (AUTHOR), Hatai, Yoshiho¹ (AUTHOR), Okamoto, Kentaro² (AUTHOR), Kaneko, Shuya³ (AUTHOR), Shimbo, Asami³ (AUTHOR), Irabu, Hitoshi⁴ (AUTHOR), Shimizu, Masaki⁵ (AUTHOR), Kanegane, Hirokazu⁵ (AUTHOR), Ono, Makoto¹ (AUTHOR) mono‐endo@umin.ac.jp

Publikováno v: International Journal of Rheumatic Diseases. May2023, Vol. 26 Issue 5, p973-976. 4p.

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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

Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy

Autor: Arakawa, Chikako, Endo, Ayumi, Kohira, Ryutaro, Fujita, Yukihiko, Fuchigami, Tatsuo, Mugishima, Hideo, Ohtake, Akira, Murayama, Kei, Mori, Masato, Miyata, Rie, Hatai, Yoshiho

Publikováno v: In Brain and Development 2012 34(2):115-117