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

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

Publikováno v: Kidney International
Kidney International, Nature Publishing Group, 2020, ⟨10.1016/j.kint.2020.05.029⟩
Kidney Int

To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations in the HLA-DR/DQ regio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e9f498de3de6242760614976f35b3f9
https://hal.archives-ouvertes.fr/hal-02962717

The effect of exercise on intramyocellular acetylcarnitine (AcCtn) concentration in adult growth hormone deficiency (GHD)

Autor: Fabian, Meienberg, Hannah, Loher, Julie, Bucher, Stefan, Jenni, Marion, Krüsi, Roland, Kreis, Chris, Boesch, Matthias Johannes, Betz, Emanuel, Christ

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Meienberg, Fabian; Loher, Hannah; Bucher, Julie; Jenni, Stefan; Krüsi, Marion; Kreis, Roland; Boesch, Christoph Hans; Betz, Matthias Johannes; Christ, Emanuel (2019). The effect of exercise on intramyocellular acetylcarnitine (AcCtn) concentration in adult growth hormone deficiency (GHD). Scientific reports, 9(1), p. 19431. Springer Nature 10.1038/s41598-019-55942-w
Scientific Reports

To cover increasing energy demands during exercise, tricarboxylic cycle (TCA) flux in skeletal muscle is markedly increased, resulting in the increased formation of intramyocellular acetylcarnitine (AcCtn). We hypothesized that reduced substrate avai

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d91ed40b16f0a733eafe3895188057

The effect of a single 2 h bout of aerobic exercise on ectopic lipids in skeletal muscle, liver and the myocardium

Autor: Roland Kreis, Michael Ith, Peter Diem, Julie Bucher, Thomas Zueger, Christoph Stettler, Marion Krüsi, Emanuel Christ, Chris Boesch

Publikováno v: Bucher, Julie Véronique; Krüsi, Marion Rebekka; Züger, Thomas; Ith, Michael; Stettler, Christoph; Diem, Peter; Boesch, Chris; Kreis, Roland; Christ, Emanuel (2014). The effect of a single 2 h bout of aerobic exercise on ectopic lipids in skeletal muscle, liver and the myocardium. Diabetologia, 57(5), pp. 1001-1005. Springer 10.1007/s00125-014-3193-0

Ectopic lipids are fuel stores in non-adipose tissues (skeletal muscle [intramyocellular lipids; IMCL], liver [intrahepatocellular lipids; IHCL] and heart [intracardiomyocellular lipids; ICCL]). IMCL can be depleted by physical activity. Preliminary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d297a6a88b73df6c6879f8d3226e8a2
https://doi.org/10.1007/s00125-014-3193-0

Lessons from a French collaborative case–control study in cystic fibrosis patients during the 2009 A/H1N1 influenza pandemy

Autor: Julie Bucher, M. Lebourgeois, Dominique Hubert, Isabelle Sermet-Gaudelus, Odile Launay, Marianne Leruez-Ville, V. Boussaud, E. Deneuville, N. Remus, Isabelle Durieu, François Bremont, Marie Véronique Vodoff, Laurence Bassinet, Nathalie Stremler, Françoise Troussier, Pierre-Yves Boëlle, Dominique Grenet, Bertrand Delaisi, Jean-Marc Tréluyer, Harriet Corvol

Publikováno v: BMC Infectious Diseases
BMC Infectious Diseases, 2016, 16, pp.55. ⟨10.1186/s12879-016-1352-2⟩
BMC Infectious Diseases, BioMed Central, 2016, 16, pp.55. ⟨10.1186/s12879-016-1352-2⟩
BMC Infectious Diseases, BioMed Central, 2016, 16, pp.55. 〈10.1186/s12879-016-1352-2〉

Background Viral infections such as influenza are thought to impact respiratory parameters and to promote infection with Pseudomonas aeruginosa in patients with cystic fibrosis (CF). However, the real morbidity of the influenza virus in CF needs to b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78ed304165fe7ec3b1b9d1801893c0a
https://univ-rennes.hal.science/hal-01282342

Flexibility of ectopic lipids in physically active, healthy individuals

Autor: Roland Kreis, Marion Krüsi, Thomas Züger, Christoph Stettler, Chris Boesch, Julie Bucher, Michael Ith

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0b2795ad1fb5eef01224ab1c3da4c92f
https://doi.org/10.1530/endoabs.35.p200