臨床オミックス解析グループ 発表論文

発表論文

2022 2021 2020 2019 2018 2017 2016


2022


Characterization of proteogenomic signatures of differentiation of CD4+ T cell subsets

Toshio Kanno, Ryo Konno, Keisuke Miyako, Takahiro Nakajima, Satoru Yokoyama, Shigemi Sasamoto, Hikari K Asou, Junichiro Ohzeki, Yusuke Kawashima, Yoshinori Hasegawa, Osamu Ohara, Yusuke Endo
DNA Res. 2023;30(1):dsac054.
doi:10.1093/dnares/dsac054


Optimization of Ultrafast Proteomics Using an LC-Quadrupole-Orbitrap Mass Spectrometer with Data-Independent Acquisition

Masaki Ishikawa, Ryo Konno, Daisuke Nakajima, Mari Gotoh, Keiko Fukasawa, Hironori Sato, Ren Nakamura, Osamu Ohara, Yusuke Kawashima
J Proteome Res. 2022;21(9):2085-2093.
doi:10.1021/acs.jproteome.2c00121


Identification of trypsin-degrading commensals in the large intestine

Youxian Li, Eiichiro Watanabe, Yusuke Kawashima, Damian R Plichta, Zhujun Wang, Makoto Ujike, Qi Yan Ang, Runrun Wu, Munehiro Furuichi, Kozue Takeshita, Koji Yoshida, Keita Nishiyama, Sean M Kearney, Wataru Suda, Masahira Hattori, Satoshi Sasajima, Takahiro Matsunaga, Xiaoxi Zhang, Kazuto Watanabe, Jun Fujishiro, Jason M Norman, Bernat Olle, Shutoku Matsuyama, Ho Namkoong, Yoshifumi Uwamino, Makoto Ishii, Koichi Fukunaga, Naoki Hasegawa, Osamu Ohara, Ramnik J Xavier, Koji Atarashi, Kenya Honda
Nature. 2022;609(7927):582-589.
doi:10.1038/s41586-022-05181-3


Single-Shot 10K Proteome Approach: Over 10,000 Protein Identifications by Data-Independent Acquisition-Based Single-Shot Proteomics with Ion Mobility Spectrometry

Yusuke Kawashima, Hirotaka Nagai, Ryo Konno, Masaki Ishikawa, Daisuke Nakajima, Hironori Sato, Ren Nakamura, Tomoyuki Furuyashiki, Osamu Ohara
J Proteome Res. 2022;21(6):1418-1427.
doi:10.1021/acs.jproteome.2c00023


Evaluation of the Suitability of Dried Saliva Spots for In-Depth Proteome Analyses for Clinical Applications

Hironori Sato, Daisuke Nakajima, Masaki Ishikawa, Ryo Konno, Ren Nakamura, Osamu Ohara, Yusuke Kawashima
J Proteome Res. 2022;21(5):1340-1348.
doi:10.1021/acs.jproteome.2c00099


Dataset for deep single-shot proteomics by DIA with FAIMS

Yusuke Kawashima , Masaki Ishikawa, Ryo Konno, Daisuke Nakajima, Osamu Ohara
J Proteome Data Methods, 2022;4:4.
doi:10.14889/jpdm.2022.0004

難病領域の遺伝学的検査の実際
細川淳一、小原收
遺伝子医学 (44) 2023 年1月


遺伝子検査と保険診療 希少難病の遺伝医療と検体検査 現状と課題

小原收
日本遺伝カウンセリング学会誌、42(4) 403-408. 022 年 3 月


遺伝学的検査(生殖細胞系列遺伝子検査)

糸賀 栄
サクラファインテックジャパン株式会社 H.P. 標本道場、2022 年 6 月

外来で見つける先天代謝異常症
小原收(分担執筆)
中山書店
ISBN:9784521749242

Uterine epithelial Gp130 orchestrates hormone response and epithelial remodeling for successful embryo attachment in mice
Takafumi Namiki, Jumpei Terakawa, Harumi Karakama, Michiko Noguchi, Hironobu Murakami, Yoshinori Hasegawa, Osamu Ohara, Takiko Daikoku, Junya Ito, Naomi Kashiwazaki
Sci Rep. 2023;13(1):854. Published 2023 Jan 16.
doi:10.1038/s41598-023-27859-y


Bile proteome analysis by high-precision mass spectrometry to examine novel biomarkers of primary sclerosing cholangitis

Motoyasu Kan, Tetsuhiro Chiba, Ryo Konno, Yusuke Kouchi, Takashi Mishima, Yusuke Kawashima, Takashi Kishimoto, Masayuki Ohtsuka, Osamu Ohara, Naoya Kato
J Hepatobiliary Pancreat Sci. 2022;10.1002/jhbp.1299.
doi:10.1002/jhbp.1299


PCGF1-PRC1 links chromatin repression with DNA replication during hematopoietic cell lineage commitment

Junichiro Takano 1 2 3, Shinsuke Ito 2, Yixing Dong 2, Jafar Sharif 2, Yaeko Nakajima-Takagi 4, Taichi Umeyama 5, Yong-Woon Han 6, Kyoichi Isono 2 7, Takashi Kondo 2, Yusuke Iizuka 2, Tomohiro Miyai 2, Yoko Koseki 2, Mika Ikegaya 1 2, Mizuki Sakihara 8, Manabu Nakayama 9, Osamu Ohara 9, Yoshinori Hasegawa 9, Kosuke Hashimoto 10 11, Erik Arner 12, Robert J Klose 13, Atsushi Iwama 4, Haruhiko Koseki 14 15, Tomokatsu Ikawa 16 17
Nat Commun. 2022;13(1):7159. Published 2022 Nov 28.
doi:10.1038/s41467-022-34856-8


Proteogenomic landscape and clinical characterization of GH-producing pituitary adenomas/somatotroph pituitary neuroendocrine tumors

Azusa Yamato , Hidekazu Nagano , Yue Gao, Tatsuma Matsuda, Naoko Hashimoto, Akitoshi Nakayama, Kazuyuki Yamagata, Masataka Yokoyama, Yingbo Gong, Xiaoyan Shi, Siti Nurul Zhahara, Takashi Kono, Yuki Taki, Naoto Furuki, Motoi Nishimura, Kentaro Horiguchi, Yasuo Iwadate, Masaki Fukuyo, Bahityar Rahmutulla, Atsushi Kaneda, Yoshinori Hasegawa, Yusuke Kawashima, Osamu Ohara, Tetsuo Ishikawa, Eiryo Kawakami, Yasuhiro Nakamura, Naoko Inoshita, Shozo Yamada, Noriaki Fukuhara, Hiroshi Nishioka, Tomoaki Tanaka
Commun Biol. 2022;5(1):1304. Published 2022 Nov 27.
doi:10.1038/s42003-022-04272-1


Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan

Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C van Zelm, Morton J Cowan, Tomohiro Morio, Hirokazu Kanegane
J Clin Immunol. 2023;43(3):585-594.
doi:10.1007/s10875-022-01405-3


Role of Scl39a13/ZIP13 in cardiovascular homeostasis

Takafumi Hara, Ikuko Yamada, Takuto Ohashi, Masaru Tamura, Atsushi Hijikata, Takashi Watanabe, Minghao Gao, Kana Ito, Saeko Kawamata, Shiori Azuma, Emi Yoshigai, Yukiko Sumiyoshi, Natsumi Yasuhiro, Osamu Ohara, Heloísa G Dos Santos, Toshiyuki Fukada
PLoS One. 2022;17(10):e0276452. Published 2022 Oct 21.
doi:10.1371/journal.pone.0276452


Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience

Takayuki Miyamoto, Yoshitaka Honda, Kazushi Izawa, Nobuo Kanazawa, Saori Kadowaki, Hidenori Ohnishi, Masakazu Fujimoto, Naotomo Kambe, Naoya Kase, Takeshi Shiba, Yasuo Nakagishi, Shuji Akizuki, Kosaku Murakami, Masahiro Bamba, Yutaka Nishida, Ayano Inui, Tomoo Fujisawa, Daisuke Nishida, Naomi Iwata, Yoshikazu Otsubo, Shingo Ishimori, Momoko Nishikori, Kiminobu Tanizawa, Tomoyuki Nakamura, Takeshi Ueda, Yoko Ohwada, Yu Tsuyusaki, Masaki Shimizu, Takasuke Ebato, Kousho Iwao, Akiharu Kubo, Toshinao Kawai, Tadashi Matsubayashi, Tatsuhiko Miyazaki, Tomohiro Kanayama, Masahiko Nishitani-Isa, Hiroshi Nihira, Junya Abe, Takayuki Tanaka, Eitaro Hiejima, Satoshi Okada, Osamu Ohara, Megumu K Saito, Junko Takita, Ryuta Nishikomori, Takahiro Yasumi
Front Immunol. 2022;13:905960. Published 2022 Sep 23.
doi:10.3389/fimmu.2022.905960


SCD2-mediated cooperative activation of IRF3-IRF9 regulatory circuit controls type I interferon transcriptome in CD4+ T cells

Toshio Kanno, Keisuke Miyako, Takahiro Nakajima, Satoru Yokoyama, Shigemi Sasamoto, Hikari K Asou, Osamu Ohara, Toshinori Nakayama, Yusuke Endo
Front Immunol. 2022;13:904875. Published 2022 Aug 18.
doi:10.3389/fimmu.2022.904875


Meningoencephalitis in primary antibody deficiency: Our experience from northwest India

Ankur Kumar Jindal, Himanshi Chaudhary, Rahul Tyagi, Amit Rawat, Deepti Suri, Pratap Kumar Patra, Kanika Arora, Sanchi Chawla, Sameer Vyas, Munish Arora, Ridhima Aggarwal, Suprit Basu, Reema Bansal, Man Updesh Singh Sachdeva, Anju Gupta, Vignesh Pandiarajan, Naveen Sankhyan, Renu Suthar, Jitendra Kumar Sahu, Mini Singh, Reeta Mani, Rajni Sharma, Ruchi Saka, Kohsuke Imai, Osamu Ohara, Shigeaki Nonoyama, Lennart Hammarström, Koon Wing Chan, Yu Lung Lau, Surjit Singh
J Neuroimmunol. 2022;371:577952.
doi:10.1016/j.jneuroim.2022.577952


Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19

Shohei Eto, Yoko Nukui, Miyuki Tsumura, Yu Nakagama, Kenichi Kashimada, Yoko Mizoguchi, Takanori Utsumi, Maki Taniguchi, Fumiaki Sakura, Kosuke Noma, Yusuke Yoshida, Shinichiro Ohshimo, Shintaro Nagashima, Keisuke Okamoto, Akifumi Endo, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Shintaro Hirata, Eiji Sugiyama, Nobuaki Shime, Masanori Ito, Hiroki Ohge, Yasutoshi Kido, Paul Bastard, Jean-Laurent Casanova, Osamu Ohara, Junko Tanaka, Tomohiro Morio, Satoshi Okada
J Clin Immunol. 2022;42(7):1360-1370.
doi:10.1007/s10875-022-01308-3


Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation

Masahiko Nishitani-Isa, Kojiro Mukai, Yoshitaka Honda, Hiroshi Nihira, Takayuki Tanaka, Hirofumi Shibata, Kumi Kodama, Eitaro Hiejima, Kazushi Izawa, Yuri Kawasaki, Mitsujiro Osawa, Yu Katata, Sachiko Onodera, Tatsuya Watanabe, Takashi Uchida, Shigeo Kure, Junko Takita, Osamu Ohara, Megumu K Saito, Ryuta Nishikomori, Tomohiko Taguchi, Yoji Sasahara, Takahiro Yasumi
J Exp Med. 2022;219(6):e20211889.
doi:10.1084/jem.20211889

2021


Data-Independent Acquisition Mass Spectrometry-Based Deep Proteome Analysis for Hydrophobic Proteins from Dried Blood Spots Enriched by Sodium Carbonate Precipitation

Daisuke Nakajima, Osamu Ohara, Yusuke Kawashima
Methods Mol Biol. 2022;2420:39-52.
doi:10.1007/978-1-0716-1936-0_4


Toward proteome-wide exploration of proteins in dried blood spots using liquid chromatography-coupled mass spectrometry

Daisuke Nakajima, Osamu Ohara, Yusuke Kawashima
Proteomics. 2021;21(23-24):e2100019.
doi:10.1002/pmic.202100019


Multiomic technologies for analyses of inborn errors of immunity: from snapshot of the average cell to dynamic temporal picture at single-cell resolution

Yusuke Kawashima, Ryuta Nishikomori, Osamu Ohara
Inflamm Regen. 2021;41(1):19. Published 2021 Jul 1.
doi:10.1186/s41232-021-00169-4


A Simple Method for In-Depth Proteome Analysis of Mammalian Cell Culture Conditioned Media Containing Fetal Bovine Serum

Ren Nakamura, Daisuke Nakajima, Hironori Sato, Yusuke Endo, Osamu Ohara, Yusuke Kawashima
Int J Mol Sci. 2021;22(5):2565. Published 2021 Mar 4.
doi:10.3390/ijms22052565


In-Depth Serum Proteomics by DIA-MS with In Silico Spectral Libraries Reveals Dynamics during the Active Phase of Systemic Juvenile Idiopathic Arthritis

Hironori Sato, Yuzaburo Inoue, Yusuke Kawashima, Daisuke Nakajima, Masaki Ishikawa, Ryo Konno, Ren Nakamura, Daigo Kato, Kanako Mitsunaga, Takeshi Yamamoto, Akiko Yamaide, Minako Tomiita, Akira Hoshioka, Osamu Ohara, Naoki Shimojo
ACS Omega. 2022;7(8):7012-7023. Published 2022 Feb 15.
doi:10.1021/acsomega.1c06681


A highly efficient method for extracting peptides from a single mouse hypothalamus

Yuzuru Nakagawa, Takashi Matsui, Ryo Konno, Yusuke Kawashima, Toshiya Sato, Makoto Itakura, Yoshio Kodera
Biochem Biophys Res Commun. 2021;548:155-160.
doi:10.1016/j.bbrc.2021.02.041


Highly accurate and precise quantification strategy using stable isotope dimethyl labeling coupled with GeLC-MS/MS

Ryo Konno, Takashi Matsui, Hiroaki Ito, Yusuke Kawashima, Makoto Itakura, Yoshio Kodera
Biochem Biophys Res Commun. 2021;550:37-42.
doi:10.1016/j.bbrc.2021.02.101


Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model

Taisuke Kato, Ri-Ichiroh Manabe, Hironaka Igarashi, Fuyuki Kametani, Sachiko Hirokawa, Yumi Sekine, Natsumi Fujita, Satoshi Saito, Yusuke Kawashima, Yuya Hatano, Shoichiro Ando, Hiroaki Nozaki, Akihiro Sugai, Masahiro Uemura, Masaki Fukunaga, Toshiya Sato, Akihide Koyama, Rie Saito, Atsushi Sugie, Yasuko Toyoshima, Hirotoshi Kawata, Shigeo Murayama, Masaki Matsumoto, Akiyoshi Kakita, Masato Hasegawa, Masafumi Ihara, Masato Kanazawa, Masatoyo Nishizawa, Shoji Tsuji, Osamu Onodera
J Clin Invest. 2021;131(22):e140555.
doi:10.1172/JCI140555


Bottom-up/cross-linking mass spectrometry via simplified sample processing on anion-exchange solid-phase extraction spin column

Ayako Takemori, Yusuke Kawashima, Nobuaki Takemori
Chem Commun (Camb). 2022;58(6):775-778. Published 2022 Jan 18.
doi:10.1039/d1cc05529a


IgM to IgG Class Switching Is a Necessary Step for Pemphigus Phenotype Induction in Desmoglein 3-Specific B Cell Receptor Knock-in Mouse

Hisashi Nomura, Naoko Wada, Hayato Takahashi, Yuko Kase, Jun Yamagami, Shohei Egami, Hisato Iriki, Miho Mukai, Aki Kamata, Hiromi Ito, Hideki Fujii, Tomoyuki Ishikura, Haruhiko Koseki, Takashi Watanabe, Taketo Yamada, Osamu Ohara, Shigeo Koyasu, Masayuki Amagai
J Immunol. 2022;208(3):582-593.
doi:10.4049/jimmunol.2100781


Functional Roles for CD26/DPP4 in Mediating Inflammatory Responses of Pulmonary Vascular Endothelial Cells

Yukiko Takahashi 1, Takeshi Kawasaki 1, Hironori Sato 2 3, Yoshinori Hasegawa 2, Steven M Dudek 4, Osamu Ohara 2, Koichiro Tatsumi 1, Takuji Suzuki
Cells. 2021;10(12):3508. Published 2021 Dec 11.
doi:10.3390/cells10123508


Essential Role of STAT3 Signaling in Hair Follicle Homeostasis

Kosuke Miyauchi, Sewon Ki, Masao Ukai, Yoshie Suzuki, Kentaro Inoue, Wataru Suda, Takeshi Matsui, Yoshihiro Ito, Kenya Honda, Haruhiko Koseki01, Osamu Ohara23, Reiko J Tanaka4, Mariko Okada-Hatakeyama5, Masato Kubo
Front Immunol. 2021;12:663177. Published 2021 Nov 11.
doi:10.3389/fimmu.2021.663177


ACC1-expressing pathogenic T helper 2 cell populations facilitate lung and skin inflammation in mice

Takahiro Nakajima, Toshio Kanno, Satoru Yokoyama, Shigemi Sasamoto, Hikari K Asou, Damon J Tumes, Osamu Ohara, Toshinori Nakayama, Yusuke Endo
J Exp Med. 2021;218(12):e20210639.
doi:10.1084/jem.20210639


Acsbg1-dependent mitochondrial fitness is a metabolic checkpoint for tissue Treg cell homeostasis

Toshio Kanno, Takahiro Nakajima, Yusuke Kawashima, Satoru Yokoyama, Hikari K Asou, Shigemi Sasamoto, Koji Hayashizaki, Yuki Kinjo, Osamu Ohara, Toshinori Nakayama, Yusuke Endo
Cell Rep. 2021;37(6):109921.
doi:10.1016/j.celrep.2021.109921


Genetic subtype classification using a simplified algorithm and mutational characteristics of diffuse large B-cell lymphoma in a Japanese cohort

Tatsuzo Mishina, Nagisa Oshima-Hasegawa, Shokichi Tsukamoto, Masaki Fukuyo, Hajime Kageyama, Tomoya Muto, Naoya Mimura, Bahityar Rahmutulla, Yurie Nagai, Kensuke Kayamori, Yutaro Hino, Shio Mitsukawa, Yusuke Takeda, Chikako Ohwada, Masahiro Takeuchi, Hideki Tsujimura, Tohru Iseki, Chiaki Nakaseko, Jun-Ichiro Ikeda, Makiko Itami, Koutaro Yokote, Osamu Ohara, Atsushi Kaneda, Emiko Sakaida
Br J Haematol. 2021;195(5):731-742.
doi:10.1111/bjh.17765


Transplantation of human autologous synovial mesenchymal stem cells with trisomy 7 into the knee joint and 5 years of follow-up

Mitsuru Mizuno, Kentaro Endo, Hisako Katano, Naoki Amano, Masaki Nomura, Yoshinori Hasegawa, Nobutake Ozeki, Hideyuki Koga, Naoko Takasu, Osamu Ohara, Tomohiro Morio, Ichiro Sekiya
Stem Cells Transl Med. 2021;10(11):1530-1543.
doi:10.1002/sctm.20-0491


Acetate differentially regulates IgA reactivity to commensal bacteria

Tadashi Takeuchi, Eiji Miyauchi, Takashi Kanaya, Tamotsu Kato, Yumiko Nakanishi, Takashi Watanabe, Toshimori Kitami, Takashi Taida, Takaharu Sasaki, Hiroki Negishi, Shu Shimamoto, Akinobu Matsuyama, Ikuo Kimura, Ifor R Williams, Osamu Ohara, Hiroshi Ohno
Nature. 2021;595(7868):560-564.
doi:10.1038/s41586-021-03727-5


Hematopoietic Cell Transplantation Rescues Inflammatory Bowel Disease and Dysbiosis of Gut Microbiota in XIAP Deficiency

Shintaro Ono, Kozue Takeshita, Yuko Kiridoshi, Motohiro Kato, Takahiro Kamiya, Akihiro Hoshino, Masakatsu Yanagimachi, Katsuhiro Arai, Ichiro Takeuchi, Nariaki Toita, Toshihiko Imamura, Yoji Sasahara, Junichi Sugita, Kazuko Hamamoto, Masanobu Takeuchi, Shoji Saito, Masaei Onuma, Hiroshi Tsujimoto, Masahiro Yasui, Takashi Taga, Yuki Arakawa, Yuichi Mitani, Nobuyuki Yamamoto, Kohsuke Imai, Wataru Suda, Masahira Hattori, Osamu Ohara, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane
J Allergy Clin Immunol Pract. 2021;9(10):3767-3780.
doi:10.1016/j.jaip.2021.05.045


SCD2-mediated monounsaturated fatty acid metabolism regulates cGAS-STING-dependent type I IFN responses in CD4+ T cells

Toshio Kanno, Takahiro Nakajima, Satoru Yokoyama, Hikari K Asou, Shigemi Sasamoto, Yasuhiro Kamii, Koji Hayashizaki, Yasuo Ouchi, Taishi Onodera, Yoshimasa Takahashi, Kazutaka Ikeda, Yoshinori Hasegawa, Yuki Kinjo, Osamu Ohara, Toshinori Nakayama, Yusuke Endo
Commun Biol. 2021;4(1):820. Published 2021 Jun 29.
doi:10.1038/s42003-021-02310-y


A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS

Motoi Yamashita, Hye Sun Kuehn #, Kazuki Okuyama #, Satoshi Okada, Yuzaburo Inoue, Noriko Mitsuiki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Masahiro Takeuchi, Naoki Shimojo, Miyuki Tsumura, Aditya K Padhi, Kam Y J Zhang, Bertrand Boisson, Jean-Laurent Casanova, Osamu Ohara, Sergio D Rosenzweig, Ichiro Taniuchi, Tomohiro Morio
Nat Immunol. 2021;22(7):893-903.
doi:10.1038/s41590-021-00951-z


Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion

Shimaa Said Mohamed Ali Abdrabou, Nariaki Toita, Shin Ichihara, Yusuke Tozawa, Michiko Takahashi, Shin-Ichi Fujiwara, Toshifumi Ashida, Osamu Ohara, Tadashi Ariga, Atsushi Manabe, Mutsuko Konno, Masafumi Yamada
Pediatr Int. 2022;64(1):e14892.
doi:10.1111/ped.14892


Influenza virus infection expands the breadth of antibody responses through IL-4 signalling in B cells

Kosuke Miyauchi, Yu Adachi, Keisuke Tonouchi, Taiki Yajima, Yasuyo Harada, Hidehiro Fukuyama, Senka Deno, Yoichiro Iwakura, Akihiko Yoshimura, Hideki Hasegawa0, Katsuyuki Yugi, Shin-Ichiro Fujii1, Osamu Ohara2, Yoshimasa Takahashi, Masato Kubo
Nat Commun. 2021;12(1):3789. Published 2021 Jun 18.
doi:10.1038/s41467-021-24090-z


Sjögren’s syndrome-associated SNPs increase GTF2I expression in salivary gland cells to enhance inflammation development

Shuhei Shimoyama, Ikuma Nakagawa, Jing-Jing Jiang, Isao Matsumoto, John A Chiorini, Yoshinori Hasegawa, Osamu Ohara, Rie Hasebe, Mitsutoshi Ota, Mona Uchida, Daisuke Kamimura, Shintaro Hojyo, Yuki Tanaka, Tatsuya Atsumi, Masaaki Murakami
Int Immunol. 2021;33(8):423-434.
doi:10.1093/intimm/dxab025


Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India

Deepti Suri, Rashmi Rikhi, Ankur K Jindal, Amit Rawat, Murugan Sudhakar, Pandiarajan Vignesh, Anju Gupta, Anit Kaur, Jyoti Sharma, Jasmina Ahluwalia, Prateek Bhatia, Alka Khadwal, Revathi Raj, Ramya Uppuluri, Mukesh Desai, Prasad Taur, Ambreen A Pandrowala, Vijaya Gowri, Manisha R Madkaikar, Harsha Prasada Lashkari, Sagar Bhattad, Harish Kumar, Sanjeev Verma, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Koon W Chan, Pamela P Lee, Yu Lung Lau, Surjit Singh
Front Immunol. 2021;12:627651. Published 2021 Apr 16.
doi:10.3389/fimmu.2021.627651


Staphylococcus cohnii is a potentially biotherapeutic skin commensal alleviating skin inflammation

Yoshihiro Ito, Takashi Sasaki, Youxian Li, Takeshi Tanoue, Yuki Sugiura, Ashwin N Skelly, Wataru Suda, Yusuke Kawashima, Nobuyuki Okahashi, Eiichiro Watanabe, Hiroto Horikawa, Aiko Shiohama, Rina Kurokawa, Eiryo Kawakami, Hachiro Iseki, Hiroshi Kawasaki, Yoichiro Iwakura, Atsushi Shiota, Liansheng Yu, Junzo Hisatsune, Haruhiko Koseki, Motoyuki Sugai, Makoto Arita, Osamu Ohara, Takeshi Matsui, Makoto Suematsu, Masahira Hattori, Koji Atarashi, Masayuki Amagai, Kenya Honda
Cell Rep. 2021 Apr 27;35(4):109052.
doi: 10.1016/j.celrep.2021.109052.


Genomics analysis of leukaemia predisposition in X-linked agammaglobulinaemia

Akira Nishimura, Takuya Naruto, Satoshi Miyamoto, Andrew Grigg, Julian J Bosco, Akihiro Hoshino, Keishiro Amano, Shotaro Iwamoto, Masahiro Hirayama, Masahiro Migita, Osamu Ohara, Masatoshi Takagi, Tomohiro Morio, Menno C van Zelm, Hirokazu Kanegane
Br J Haematol. 2021;193(6):1277-1281.
doi:10.1111/bjh.17459


ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor

Yuri Kanamaru, Toru Uchiyama, Tadashi Kaname, Kumiko Yanagi, Osamu Ohara, Shinji Kunishima, Akira Ishiguro
Int J Hematol. 2021;114(2):297-300.
doi:10.1007/s12185-021-03136-4


Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants

Yoshitaka Honda , Yukako Maeda , Kazushi Izawa, Takeshi Shiba, Takayuki Tanaka, Haruna Nakaseko, Keisuke Nishimura, Hiroki Mukoyama, Masahiko Isa-Nishitani, Takayuki Miyamoto, Hiroshi Nihira, Hirofumi Shibata, Eitaro Hiejima, Osamu Ohara, Junko Takita, Takahiro Yasumi, Ryuta Nishikomori
J Clin Immunol. 2021;41(6):1187-1197.
doi:10.1007/s10875-021-01021-7


Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India

Amit Rawat, Pandiarajan Vignesh, Murugan Sudhakar, Madhubala Sharma, Deepti Suri, Ankur Jindal, Anju Gupta, Jitendra Kumar Shandilya, Sathish Kumar Loganathan, Gurjit Kaur, Sanchi Chawla, Pratap Kumar Patra, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Vaishali Aggarwal, Prasad Taur, Ambreen Pandrowala, Vijaya Gowri, Mukesh Desai, Manasi Kulkarni, Gauri Hule, Umair Bargir, Priyanka Kambli, Manisha Madkaikar, Sagar Bhattad, Chetan Ginigeri, Harish Kumar, Ananthvikas Jayaram, Deenadayalan Munirathnam, Meena Sivasankaran, Revathi Raj, Ramya Uppuluri, Fouzia Na, Biju George, Harsha Prasada Lashkari, Manas Kalra, Anupam Sachdeva, Shishir Seth, Tapas Sabui, Aman Gupta, Karin van Leeuwen, Martin de Boer, Koon Wing Chan, Kohsuke Imai, Osamu Ohara, Shigeaki Nonoyama, Yu Lung Lau, Surjit Singh
Front Immunol. 2021;12:625320. Published 2021 Feb 25.
doi:10.3389/fimmu.2021.625320


Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India

Pandiarajan Vignesh, Amit Rawat, Rajni Kumrah, Ankita Singh, Anjani Gummadi, Madhubala Sharma, Anit Kaur, Johnson Nameirakpam, Ankur Jindal, Deepti Suri, Anju Gupta, Alka Khadwal, Biman Saikia, Ranjana Walker Minz, Kaushal Sharma, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Pandrowala, Aparna Dalvi, Neha Jodhawat, Priyanka Kambli, Manisha Rajan Madkaikar, Sagar Bhattad, Stalin Ramprakash, Raghuram CP, Ananthvikas Jayaram, Meena Sivasankaran, Deenadayalan Munirathnam, Sarath Balaji, Aruna Rajendran, Amita Aggarwal, Komal Singh, Fouzia Na, Biju George, Ankit Mehta, Harsha Prasada Lashkari, Ramya Uppuluri, Revathi Raj, Sandip Bartakke, Kirti Gupta, Sreejesh Sreedharanunni, Yumi Ogura, Tamaki Kato, Kohsuke Imai, Koon Wing Chan, Daniel Leung, Osamu Ohara, Shigeaki Nonoyama, Michael Hershfield, Yu-Lung Lau, Surjit Singh
Front Immunol. 2021;11:619146. Published 2021 Feb 8.
doi:10.3389/fimmu.2020.619146

Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India
Amit Rawat, Ankur Kumar Jindal, Deepti Suri, Pandiarajan Vignesh, Anju Gupta, Biman Saikia, Ranjana W Minz, Aaqib Zaffar Banday, Rahul Tyagi, Kanika Arora, Vibhu Joshi, Sanjib Mondal, Jitendra Kumar Shandilya, Madhubala Sharma, Mukesh Desai, Prasad Taur, Ambreen Pandrowala, Vijaya Gowri, Sneha Sawant-Desai, Maya Gupta, Aparna Dhondi Dalvi, Manisha Madkaikar, Amita Aggarwal, Revathi Raj, Ramya Uppuluri, Sagar Bhattad, Ananthvikas Jayaram, Harsha Prasad Lashkari, Liza Rajasekhar, Deenadayalan Munirathnam, Manas Kalra, Anuj Shukla, Ruchi Saka, Rajni Sharma, Ravinder Garg, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Pamela P Lee, Koon Wing Chan, Yu-Lung Lau, Surjit Singh
Front Immunol. 2021;11:612323. Published 2021 Jan 15.
doi:10.3389/fimmu.2020.612323


Targeting critical kinases and anti-apoptotic molecules overcomes steroid resistance in MLL-rearranged leukaemia

Anne P de Groot, Yoriko Saito, Eiryo Kawakami, Mari Hashimoto, Yuki Aoki, Rintaro Ono, Ikuko Ogahara, Saera Fujiki, Akiko Kaneko, Kaori Sato, Hiroshi Kajita, Takashi Watanabe, Masatoshi Takagi, Daisuke Tomizawa, Katsuyoshi Koh, Mariko Eguchi, Eiichi Ishii, Osamu Ohara, Leonard D Shultz, Shuki Mizutani, Fumihiko Ishikawa
EBioMedicine. 2021;64:103235.
doi:10.1016/j.ebiom.2021.103235


Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings

Yusuke Imanaka, Maki Taniguchi, Takehiko Doi, Miyuki Tsumura, Rie Nagaoka, Maiko Shimomura, Takaki Asano, Reiko Kagawa, Yoko Mizoguchi, Shuhei Karakawa, Koji Arihiro, Kohsuke Imai, Tomohiro Morio, Jean-Laurent Casanova, Anne Puel, Osamu Ohara, Katsuhiko Kamei, Masao Kobayashi, Satoshi Okada
J Clin Immunol. 2021;41(5):975-986.
doi:10.1007/s10875-021-00988-7


Genetic alterations in squamous cell lung cancer associated with idiopathic pulmonary fibrosis

Atsushi Hata, Takahiro Nakajima, Keisuke Matsusaka, Masaki Fukuyo, Manabu Nakayama, Junichi Morimoto, Yuki Ito, Takayoshi Yamamoto, Yuichi Sakairi, Bahityar Rahmutulla, Satoshi Ota, Hironobu Wada, Hidemi Suzuki, Takekazu Iwata, Hisahiro Matsubara, Osamu Ohara, Ichiro Yoshino, Atsushi Kaneda
Int J Cancer. 2021;148(12):3008-3018.
doi:10.1002/ijc.33499


Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation

Hiroshi Nihira, Kazushi Izawa, Moeko Ito, Hiroaki Umebayashi, Tsubasa Okano, Shunsuke Kajikawa, Etsuro Nanishi, Dai Keino, Kosaku Murakami, Masahiko Isa-Nishitani, Takeshi Shiba, Yoshitaka Honda, Atsushi Hijikata, Tadateru Yasu, Tomohiro Kubota, Yoshinori Hasegawa, Yusuke Kawashima, Naoko Nakano, Hidetoshi Takada, Shouichi Ohga, Toshio Heike, Junko Takita, Osamu Ohara, Syuji Takei, Makio Takahashi, Hirokazu Kanegane, Tomohiro Morio, Sachiko Iwaki-Egawa, Yoji Sasahara, Ryuta Nishikomori, Takahiro Yasumi
J Allergy Clin Immunol. 2021;148(2):550-562.
doi:10.1016/j.jaci.2021.01.018


Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3

Kay Tanita , Fumiaki Sakura , Ryusuke Nambu , Miyuki Tsumura, Yusuke Imanaka, Hidenori Ohnishi, Zenichiro Kato, Jie Pan, Akihiro Hoshino, Koji Suzuki, Motoko Yasutomi, Shuichiro Umetsu, Chizuru Okada, Masatoshi Takagi, Kohsuke Imai, Osamu Ohara, Alexo M Muise, Satoshi Okada, Tomohiro Morio, Hirokazu Kanegane
J Clin Immunol. 2021;41(4):780-790.
doi:10.1007/s10875-021-00975-y

TAS4464, a NEDD8-activating enzyme inhibitor, activates both intrinsic and extrinsic apoptotic pathways via c-Myc-mediated regulation in acute myeloid leukemia
Hiroaki Ochiiwa , Guzhanuer Ailiken , Masataka Yokoyama, Kazuyuki Yamagata, Hidekazu Nagano, Chihoko Yoshimura, Hiromi Muraoka, Keiji Ishida, Tomonori Haruma, Akitoshi Nakayama, Naoko Hashimoto, Kazutaka Murata, Motoi Nishimura, Yusuke Kawashima, Osamu Ohara, Shuichi Ohkubo, Tomoaki Tanaka
Oncogene. 2021;40(7):1217-1230.
doi:10.1038/s41388-020-01586-4


Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India

Pandiarajan Vignesh, Sathish Kumar Loganathan, Murugan Sudhakar, Himanshi Chaudhary, Amit Rawat, Megha Sharma, Aravind Shekar, Kim Vaiphei, Narender Kumar, Man-Updesh Singh Sachdeva, Ankur Kumar Jindal, Deepti Suri, Anju Gupta, Pallab Ray, Kohsuke Imai, Osamu Ohara, Shigeaki Nonoyama, Yu Lung Lau, Surjit Singh
J Allergy Clin Immunol Pract. 2021;9(2):771-782.e3.
doi:10.1016/j.jaip.2020.11.041


IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation

Shiho Nishimura , Yoshiyuki Kobayashi , Hidenori Ohnishi, Kunihiko Moriya, Miyuki Tsumura, Sonoko Sakata, Yoko Mizoguchi, Hidetoshi Takada, Zenichiro Kato, Vanessa Sancho-Shimizu, Capucine Picard, Sarosh R Irani, Osamu Ohara, Jean-Laurent Casanova, Anne Puel, Nobutsune Ishikawa, Satoshi Okada, Masao Kobayashi
J Clin Immunol. 2021;41(1):125-135. doi:10.1007/s10875-020-00885-5
doi:10.1007/s10875-020-00885-5


Combined inhibition of XIAP and BCL2 drives maximal therapeutic efficacy in genetically diverse aggressive acute myeloid leukemia

Mari Hashimoto , Yoriko Saito , Ryo Nakagawa, Ikuko Ogahara, Shinsuke Takagi, Sadaaki Takata, Hanae Amitani, Mikiko Endo, Hitomi Yuki, Jordan A Ramilowski, Jessica Severin, Ri-Ichiroh Manabe, Takashi Watanabe, Kokoro Ozaki, Akiko Kaneko, Hiroshi Kajita, Saera Fujiki, Kaori Sato, Teruki Honma, Naoyuki Uchida, Takehiro Fukami, Yasushi Okazaki, Osamu Ohara, Leonard D Shultz, Makoto Yamada, Shuichi Taniguchi, Paresh Vyas, Michiel de Hoon, Yukihide Momozawa, Fumihiko Ishikawa
Nat Cancer. 2021;2(3):340-356. doi:10.1038/s43018-021-00177-w
doi:10.1038/s43018-021-00177-w


Establishment of mouse stem cells that can recapitulate the developmental potential of primitive endoderm

Yasuhide Ohinata, Takaho A Endo, Hiroki Sugishita, Takashi Watanabe, Yusuke Iizuka, Yurie Kawamoto, Atsunori Saraya, Mami Kumon, Yoko Koseki, Takashi Kondo, Osamu Ohara, Haruhiko Koseki
Science. 2022;375(6580):574-578.
doi:10.1126/science.aay3325


Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Pulmonary Sarcoidosis

Keiichiro Yoshioka, Hironori Sato, Takeshi Kawasaki, Daisuke Ishii, Takuro Imamoto, Mitsuhiro Abe, Yoshinori Hasegawa, Osamu Ohara, Koichiro Tatsumi, Takuji Suzuki
Front Med (Lausanne). 2022;9:822094. Published 2022 Jan 24.
doi:10.3389/fmed.2022.822094

2020

Simple and Sensitive Analysis for Dried Blood Spot Proteins by Sodium Carbonate Precipitation for Clinical Proteomics
Daisuke Nakajima, Yusuke Kawashima, Hirofumi Shibata, Takahiro Yasumi, Masahiko Isa, Kazushi Izawa, Ryuta Nishikomori, Toshio Heike, Osamu Ohara
J Proteome Res. 2020;19(7):2821-2827.
doi:10.1021/acs.jproteome.0c00271

Discovery of Candidate Stool Biomarker Proteins for Biliary Atresia Using Proteome Analysis by Data-Independent Acquisition Mass Spectrometry
Eiichiro Watanabe, Yusuke Kawashima, Wataru Suda, Tomo Kakihara, Shinya Takazawa, Daisuke Nakajima, Ren Nakamura, Akira Nishi, Kan Suzuki, Osamu Ohara, Jun Fujishiro
Proteomes. 2020;8(4):36. Published 2020 Nov 27.
doi:10.3390/proteomes8040036

白血病関連遺伝子検査の外部精度評価の試み
糸賀 栄
医療検査と自動化 45(5): 503-512 (2020)

【遺伝情報と遺伝カウンセリング】遺伝学的検査の保険制度下での実施にかかわる取り組み
小原 收
小児内科 52(8) 1128-1130 2020 年 8 月
doi: 10.24479/J00648.2020362535

【臨床検査からみたタンパク欠損症】タンパク欠損症とオミックス解析
川島祐介, 小原 收
臨床化学 49(3) 192-198 2020 年 7 月

オミックス検査学における質量分析の役割-現状と展望-(4) オミックス検査学の潮流 : ゲノムファーストからオミックスファーストへ
川島祐介, 小原 收
臨床病理 68(7) 621-627 2020 年 7 月

【ビッグデータ時代のゲノム医学】ゲノム医学の進歩 ゲノム医学におけるオミックス解析
小原 收
生体の科学 71(2) 114-118 2020 年 4 月

細胞社会の秩序とアレルギー オミックス計測からのアプローチ
小原 收
日本小児アレルギー学会誌 34(1) 32-36 2020 年 3 月

【変わりつつある免疫不全症】免疫不全症の診断 免疫不全症の遺伝子解析の現状と今後
小原 收
小児科診療
83(3) 315-320 2020 年 3 月

Monoamine oxidase B rs1799836 G allele polymorphism is a risk factor for early development of levodopa-induced dyskinesia in Parkinson’s disease
Shoko Kakinuma, Minako Beppu, Setsu Sawai, Akitoshi Nakayama, Shigeki Hirano, Yoshitaka Yamanaka, Tatsuya Yamamoto, Chigusa Masafumi, Xiamuxiya Aisihaer, Alimasi Aersilan, Yue Gao, Kenichi Sato, Itoga Sakae, Takayuki Ishige, Motoi Nishimura, Kazuyuki Matsushita, Mamoru Satoh, Fumio Nomura, Satoshi Kuwabara, Tomoaki Tanaka
eNeurologicalSci. 2020;19:100239. Published 2020 Apr 6.
doi:10.1016/j.ensci.2020.100239

Pathogenesis of liver lesions in Theileria orientalis-inoculated cattle and severe combined immunodeficiency mice with bovine erythrocyte transfusion
Kikumi Ogihara, Yuko Naya, Masaru Kurotori, Tomoki Tsurumaru, Kieko Ishizawa, Sakae Itoga, Kazuyuki Sogawa, Akinori Shimada
Biomed Res. 2020;41(4):169-178.
doi:10.2220/biomedres.41.169

Differential gene analysis during the development of obliterative bronchiolitis in a murine orthotopic lung transplantation model: A comprehensive transcriptome-based analysis
Atsushi Hata, Hidemi Suzuki, Takahiro Nakajima, Taiki Fujiwara, Yuki Shiina, Taisuke Kaiho, Takahide Toyoda, Terunaga Inage, Takamasa Ito, Yuichi Sakairi, Hajime Tamura, Hironobu Wada, Yoshito Yamada, Masako Chiyo, Keisuke Matsusaka, Masaki Fukuyo, Ken-Ichi Shinohara, Sakae Itoga, Shinichiro Motohashi, Kazuyuki Matsushita, Atsushi Kaneda, Ichiro Yoshino
PLoS ONE 15(5): e0232884.
doi: 10.1371/journal.pone.0232884

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
Tsubasa Okano, Kohsuke Imai, Takuya Naruto, Satoshi Okada, Motoi Yamashita, Tzu-Wen Yeh, Shintaro Ono, Keisuke Tanaka, Keisuke Okamoto, Kay Tanita, Kazuaki Matsumoto, Etsushi Toyofuku, Eri Kumaki-Matsumoto, Miko Okamura, Hiroo Ueno, Seishi Ogawa, Osamu Ohara, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio
J Clin Immunol. 2020;40(5):729-740.
doi:10.1007/s10875-020-00798-3

PD-L1 Expression Affects Neoantigen Presentation
Masahiro Okada, Kanako Shimizu, Tomonori Iyoda, Shogo Ueda, Jun Shinga, Yoshiki Mochizuki, Takashi Watanabe, Osamu Ohara, Shin-Ichiro Fujii
iScience. 2020;23(6):101238.
doi:10.1016/j.isci.2020.101238

Generation and Profiling of 2,135 Human ESC Lines for the Systematic Analyses of Cell States Perturbed by Inducing Single Transcription Factors
Yuhki Nakatake, Shigeru B H Ko, Alexei A Sharov, Shunichi Wakabayashi, Miyako Murakami, Miki Sakota, Nana Chikazawa, Chiaki Ookura, Saeko Sato, Noriko Ito, Madoka Ishikawa-Hirayama, Siu Shan Mak, Lars Martin Jakt, Tomoo Ueno, Ken Hiratsuka, Misako Matsushita, Sravan Kumar Goparaju, Tomohiko Akiyama, Kei-Ichiro Ishiguro, Mayumi Oda, Norio Gouda, Akihiro Umezawa, Hidenori Akutsu, Kunihiro Nishimura, Ryo Matoba, Osamu Ohara, Minoru S H Ko
Cell Rep. 2020;31(7):107655.
doi:10.1016/j.celrep.2020.107655

Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice
Moe Tamaura, Naoko Satoh-Takayama, Miyuki Tsumura, Takaharu Sasaki, Satoshi Goda, Tomoko Kageyama, Seiichi Hayakawa, Shunsuke Kimura, Takaki Asano, Manabu Nakayama, Haruhiko Koseki, Osamu Ohara, Satoshi Okada, Hiroshi Ohno, Masao Kobayashi
Int Immunol. 2020;32(4):259-272.
doi:10.1093/intimm/dxz079

Novel HADHB mutations in a patient with mitochondrial trifunctional protein deficiency
Mina Nakama, Hideo Sasai, Mitsuru Kubota, Yuki Hasegawa, Ryoji Fujiki, Torayuki Okuyama, Osamu Ohara, Toshiyuki Fukao
Hum Genome Var. 2020;7:10. Published 2020 Apr 2.
doi:10.1038/s41439-020-0097-z

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era
Yael Shinar, Isabella Ceccherini, Dorota Rowczenio, Ivona Aksentijevich, Juan Arostegui, Eldad Ben-Chétrit, Guilaine Boursier, Marco Gattorno, Hasmik Hayrapetyan, Hiroaki Ida, Nobuo Kanazawa, Helen J Lachmann, Anna Mensa-Vilaro, Ryuta Nishikomori, Christian Oberkanins, Laura Obici, Osamu Ohara, Seza Ozen, Tamara Sarkisian, Katie Sheils, Nicola Wolstenholme, Evelien Zonneveld-Huijssoon, Marielle E van Gijn, Isabelle Touitou
Clin Chem. 2020;66(4):525-536.
doi:10.1093/clinchem/hvaa024

Microfluidic Immunoassays for Time-Resolved Measurement of Protein Secretion from Single Cells
Mai Yamagishi 1, Osamu Ohara 2 3 4, Yoshitaka Shirasaki 1 5
Annu Rev Anal Chem (Palo Alto Calif). 2020;13(1):67-84.
doi:10.1146/annurev-anchem-091619-101212

HaloTag-based conjugation of proteins to barcoding-oligonucleotides
Junshi Yazaki, Yusuke Kawashima, Taisaku Ogawa, Atsuo Kobayashi, Mayu Okoshi, Takashi Watanabe, Suguru Yoshida, Isao Kii, Shohei Egami, Masayuki Amagai, Takamitsu Hosoya, Katsuyuki Shiroguchi, Osamu Ohara
Nucleic Acids Res. 2020;48(2):e8.
doi:10.1093/nar/gkz1086

Prognostic factors for survival of herpes simplex virus-associated hemophagocytic lymphohistiocytosis
Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Shunsuke Kanno, Noriyuki Kaku, Hirosuke Inoue, Yoshitomo Motomura, Masayuki Ochiai, Yasunari Sakai, Manabu Nakayama, Osamu Ohara, Shouichi Ohga
Int J Hematol. 2020;111(1):131-136.
doi:10.1007/s12185-019-02738-3

Cysteinyl leukotriene metabolism of human eosinophils in allergic disease
Jun Miyata, Koichi Fukunaga, Yusuke Kawashima, Osamu Ohara, Makoto Arita
Allergol Int. 2020;69(1):28-34.
doi:10.1016/j.alit.2019.06.002

Epsin-mediated degradation of IP3R1 fuels atherosclerosis
Yunzhou Dong, Yang Lee, Kui Cui, Ming He, Beibei Wang, Sudarshan Bhattacharjee, Bo Zhu, Tadayuki Yago, Kun Zhang, Lin Deng, Kunfu Ouyang, Aiyun Wen, Douglas B Cowan, Kai Song, Lili Yu, Megan L Brophy, Xiaolei Liu, Jill Wylie-Sears, Hao Wu, Scott Wong, Guanglin Cui, Yusuke Kawashima, Hiroyuki Matsumoto, Yoshio Kodera, Richard J H Wojcikiewicz, Sanjay Srivastava, Joyce Bischoff, Da-Zhi Wang, Klaus Ley, Hong Chen
Nat Commun. 2020;11(1):3984. Published 2020 Aug 7.
doi:10.1038/s41467-020-17848-4

2019

Short DNA Probes Developed for Sample Tracking and Quality Assurance in Gene Panel Testing
Fujiki R, Ikeda M, Ohara O.
J Mol Diagn. 2019 Nov; 21(6):1079–1094. doi:10.1016/j.jmoldx.2019.07.003

2018

Assessing the accuracy of variant detection in cost-effective gene panel testing by next-generation sequencing
Fujiki R, Ikeda M, Yoshida A, Akiko M, Yao Y, Nishimura M, Matsushita K, Ichikawa T, Tanaka T, Morisaki H, Morisaki T, Ohara O.
J Mol Diagn. 2018 Sep; 20(5):572-582. doi:10.1016/j.jmoldx.2018.04.004.
Epub 2018 Jun 25. PubMed PMID: 29953964.

2017

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H.
J Allergy Clin Immunol. 2017 Dec 11. [Epub ahead of print]

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation.
Fujiki R, Hijikata A, Shirai T, Okada S, Kobayashi M, Ohara O.
J Biol Chem. 2017 Apr 14;292(15):6240-6254.

IκBNS enhances follicular helper T-cell differentiation and function downstream of ASCl2.
Hosokawa J, Suzuki K, Meguro K, Tanaka S, Maezawa Y, Suto A, Fujimura L, Sakamoto A, Clevers H, Ohara O, Nakajima H.
J Allergy Clin Immunol. 2017 Jul;140(1):288-291.e8.

2016

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Kagawa R, Fujiki R, Tsumura M, Sakata S, Nishimura S, Itan Y, Kong XF, Kato Z, Ohnishi H, Hirata O, Saito S, Ikeda M, El Baghdadi J, Bousfiha A, Fujiwara K, Oleastro M, Yancoski J, Perez L, Danielian S, Ailal F, Takada H, Hara T, Puel A, Boisson-Dupuis S, Bustamante J, Casanova JL, Ohara O, Okada S, Kobayashi M.
J Allergy Clin Immunol. 2017 Jul;140(1):232-241.

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al AliA, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camciogl Y, Celmeli F, Klein C, AlKhater SA, Casanova JL, Puel A.
Proc Natl Acad Sci USA. 2016 Dec 20;113(51):E8277-E8285.

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