Successful Hematopoietic Stem Cell Transplantation for Autosomal Recessive STAT1 Complete Deficiency

Yazar: Karakawa, Shuhei, Shimomura, Maiko, Sakata, Sonoko, Matsubayashi, Tadashi, Okada, Satoshi
Yayımlandı J Clin Immunol (2021)

Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2

Yazar: Morikawa, Shuntaro, Komatsu, Nagisa, Sakata, Sonoko, Nakamura-Utsunomiya, Akari, Okada, Satoshi, Tajima, Toshihiro
Yayımlandı Clin Pediatr Endocrinol (2015)

Onset of polyarticular juvenile idiopathic arthritis with both anti-cyclic citrullinated peptide antibodies and rheumatoid factor in a 3-year-old girl

Yazar: Yasui Kozo, Sakata Sonoko, Ochi Hideaki, Itamura Shinji, Hirai Kenta, Takenaka Mieko, Mitani Osamu, Ogawa Kazunori, Iyoda Kuniaki
Baskı/Yayın Bilgisi 2012-12-01

Onset of polyarticular juvenile idiopathic arthritis with both anti-cyclic citrullinated peptide antibodies and rheumatoid factor in a 3-year-old girl

Yazar: Yasui, Kozo, Sakata, Sonoko, Ochi, Hideaki, Itamura, Shinji, Hirai, Kenta, Takenaka, Mieko, Mitani, Osamu, Ogawa, Kazunori, Iyoda, Kuniaki
Baskı/Yayın Bilgisi 2012

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

Yazar: Sakata, Sonoko, Okada, Satoshi, Aoyama, Kohei, Hara, Keiichi, Tani, Chihiro, Kagawa, Reiko, Utsunomiya-Nakamura, Akari, Miyagawa, Shinichiro, Ogata, Tsutomu, Mizuno, Haruo, Kobayashi, Masao
Yayımlandı Front Genet (2017)

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months

Yazar: Nakamura-Utsunomiya, Akari, Nakamae, Toshio, Kagawa, Reiko, Karakawa, Shuhei, Sakata, Sonoko, Sakura, Fumiaki, Tani, Chihiro, Matsubara, Yoshiko, Ishino, Takashi, Tajima, Go, Okada, Satoshi
Yayımlandı Int J Mol Sci (2020)

IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

Yazar: Nishimura, Shiho, Kobayashi, Yoshiyuki, Ohnishi, Hidenori, Moriya, Kunihiko, Tsumura, Miyuki, Sakata, Sonoko, Mizoguchi, Yoko, Takada, Hidetoshi, Kato, Zenichiro, Sancho-Shimizu, Vanessa, Picard, Capucine, Irani, Sarosh R., Ohara, Osamu, Casanova, Jean-Laurent, Puel, Anne, Ishikawa, Nobutsune, Okada, Satoshi, Kobayashi, Masao
Yayımlandı J Clin Immunol (2020)

Alanine-scanning mutagenesis of human STAT1 to estimate loss- or gain-of-function variants

Yazar: Kagawa, Reiko, Fujiki, Ryoji, Tsumura, Miyuki, Sakata, Sonoko, Nishimura, Shiho, Itan, Yuval, Kong, Xiao-Fei, Kato, Zenichiro, Ohnishi, Hidenori, Hirata, Osamu, Saito, Satoshi, Ikeda, Maiko, El Baghdadi, Jamila, Bousfiha, Aziz, Fujiwara, Kaori, Oleastro, Matias, Yancoski, Judith, Perez, Laura, Danielian, Silvia, Ailal, Fatima, Takada, Hidetoshi, Hara, Toshiro, Puel, Anne, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Casanova, Jean-Laurent, Ohara, Osamu, Okada, Satoshi, Kobayashi, Masao
Yayımlandı J Allergy Clin Immunol (2016)

Inborn errors of RNA lariat metabolism in humans with brainstem viral infection

Yazar: Zhang, Shen-Ying, Clark, Nathaniel E., Freije, Catherine A., Pauwels, Elodie, Taggart, Allison, Okada, Satoshi, Mandel, Hanna, Garcia, Paula, Ciancanelli, Michael J., Biran, Anat, Lafaille, Fabien G., Tsumura, Miyuki, Cobat, Aurélie, Luo, Jingchuan, Volpi, Stefano, Zimmer, Bastian, Sakata, Sonoko, Dinis, Alexandra, Ohara, Osamu, Garcia Reino, Eduardo J., Dobbs, Kerry, Hasek, Mary, Holloway, Stephen P., McCammon, Karen, Hussong, Stacy A., DeRosa, Nicholas, Van Skike, Candice E., Katolik, Adam, Lorenzo, Lazaro, Hyodo, Maki, Faria, Emilia, Halwani, Rabih, Fukuhara, Rie, Smith, Gregory A., Galvan, Veronica, Damha, Masad J., Al-Muhsen, Saleh, Itan, Yuval, Boeke, Jef D., Notarangelo, Luigi D., Studer, Lorenz, Kobayashi, Masao, Diogo, Luisa, Fairbrother, William, Abel, Laurent, Rosenberg, Brad, Hart, John, Etzioni, Amos, Casanova, Jean-Laurent
Yayımlandı Cell (2018)