Phosphate promotes osteogenic differentiation through non-canonical Wnt signaling pathway in human mesenchymal stem cells.

Shumin Rui, Takuo Kubota, Yasuhisa Ohata, Kenichi Yamamoto, Makoto Fujiwara, Shinji Takeyari, Keiichi Ozono

Bone　Vol. 164　p. 116525-116525　2022/08/18　Research paper (scientific journal)

Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium.

Bridget M Lin, Kelsey E Grinde, Jennifer A Brody, Charles E Breeze, Laura M Raffield, Josyf C Mychaleckyj, Timothy A Thornton, James A Perry, Leslie J Baier, Lisa de Las Fuentes, Xiuqing Guo, Benjamin D Heavner, Robert L Hanson, Yi-Jen Hung, Huijun Qian, Chao A Hsiung, Shih-Jen Hwang, Margaret R Irvin, Deepti Jain, Tanika N Kelly, Sayuko Kobes, Leslie Lange, James P Lash, Yun Li, Xiaoming Liu, Xuenan Mi, Solomon K Musani, George J Papanicolaou, Afshin Parsa, Alex P Reiner, Shabnam Salimi, Wayne H-H Sheu, Alan R Shuldiner, Kent D Taylor, Albert V Smith, Jennifer A Smith, Adrienne Tin, Dhananjay Vaidya, Robert B Wallace, Kenichi Yamamoto, Saori Sakaue, Koichi Matsuda, Yoichiro Kamatani, Yukihide Momozawa, Lisa R Yanek, Betsi A Young, Wei Zhao, Yukinori Okada, Gonzalo Abecasis, Bruce M Psaty, Donna K Arnett, Eric Boerwinkle, Jianwen Cai, Ida Yii-Der Chen, Adolfo Correa, L Adrienne Cupples, Jiang He, Sharon Lr Kardia, Charles Kooperberg, Rasika A Mathias, Braxton D Mitchell, Deborah A Nickerson, Steve T Turner, Ramachandran S Vasan, Jerome I Rotter, Daniel Levy, Holly J Kramer, Anna Köttgen, Nhlbi Trans-Omics For Precision Medicine TOPMed Consortium, TOPMed Kidney Working Group, Stephen S Rich, Dan-Yu Lin, Sharon R Browning, Nora Franceschini

EBioMedicine　Vol. 63　p. 103157-103157　2021/01　Research paper (scientific journal)

Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population.

Kenichi Yamamoto, Saori Sakaue, Koichi Matsuda, Yoshinori Murakami, Yoichiro Kamatani, Keiichi Ozono, Yukihide Momozawa, Yukinori Okada

Communications biology　Vol. 3　No. 1　p. 104-104　2020/03/05　Research paper (scientific journal)

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy.

Kenichi Yamamoto, Takuo Kubota, Shinji Takeyari, Taichi Kitaoka, Kei Miyata, Yukako Nakano, Hirofumi Nakayama, Yasuhisa Ohata, Kumiko Yanagi, Tadashi Kaname, Yukinori Okada, Keiichi Ozono

American journal of medical genetics. Part A　Vol. 182　No. 3　p. 454-460　2020/03　Research paper (scientific journal)

Dissecting cross-population polygenic heterogeneity across respiratory and cardiometabolic diseases

Yuji Yamamoto, Yuya Shirai, Kyuto Sonehara, Shinichi Namba, Takafumi Ojima, Kenichi Yamamoto, Ryuya Edahiro, Ken Suzuki, Akinori Kanai, Koichi Matsuda, Takayuki Morisaki, Yukinori Okada, Yoshiya Oda, Yutaka Suzuki, Takayuki Morisaki, Akira Narita, Yoshito Takeda, Gen Tamiya, Masayuki Yamamoto, Koichi Matsuda, Atsushi Kumanogoh, Toshimasa Yamauchi, Takashi Kadowaki, Yukinori Okada

Nature Communications　2025/04/28　Research paper (scientific journal)

Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder

Tomohiro Yata, Go Sato, Kotaro Ogawa, Tatsuhiko Naito, Kyuto Sonehara, Ryunosuke Saiki, Ryuya Edahiro, Shinichi Namba, Mitsuru Watanabe, Yuya Shirai, Kenichi Yamamoto, Ho NamKoong, Tomoko Nakanishi, Yuji Yamamoto, Akiko Hosokawa, Mamoru Yamamoto, Eri Oguro-Igashira, Takuro Nii, Yuichi Maeda, Kimiko Nakajima, Rika Nishikawa, Hiroaki Tanaka, Shingo Nakayamada, Koichi Matsuda, Chikako Nishigori, Shigetoshi Sano, Makoto Kinoshita, Ryuji Koike, Akinori Kimura, Seiya Imoto, Satoru Miyano, Koichi Fukunaga, Masahito Mihara, Yuko Shimizu, Izumi Kawachi, Katsuichi Miyamoto, Yoshiya Tanaka, Atsushi Kumanogoh, Masaaki Niino, Yuji Nakatsuji, Seishi Ogawa, Takuya Matsushita, Jun-ichi Kira, Hideki Mochizuki, Noriko Isobe, Tatsusada Okuno, Yukinori Okada

Cell Genomics　p. 100776-100776　2025/02　Research paper (scientific journal)

Blood DNA virome associates with autoimmune diseases and COVID-19.

Noah Sasa, Shohei Kojima, Rie Koide, Takanori Hasegawa, Ho Namkoong, Tomomitsu Hirota, Rei Watanabe, Yuumi Nakamura, Eri Oguro-Igashira, Kotaro Ogawa, Tomohiro Yata, Kyuto Sonehara, Kenichi Yamamoto, Toshihiro Kishikawa, Saori Sakaue, Ryuya Edahiro, Yuya Shirai, Yuichi Maeda, Takuro Nii, Shotaro Chubachi, Hiromu Tanaka, Haruka Yabukami, Akari Suzuki, Kimiko Nakajima, Noriko Arase, Takashi Okamoto, Rika Nishikawa, Shinichi Namba, Tatsuhiko Naito, Ippei Miyagawa, Hiroaki Tanaka, Masanobu Ueno, Yosuke Ishitsuka, Junichi Furuta, Kayo Kunimoto, Ikko Kajihara, Satoshi Fukushima, Hideaki Miyachi, Hiroyuki Matsue, Masahiro Kamata, Mami Momose, Toshinori Bito, Hiroshi Nagai, Tetsuya Ikeda, Tatsuya Horikawa, Atsuko Adachi, Tsukasa Matsubara, Kyoko Ikumi, Emi Nishida, Ikuma Nakagawa, Mayu Yagita-Sakamaki, Maiko Yoshimura, Shiro Ohshima, Makoto Kinoshita, Satoru Ito, Toru Arai, Masaki Hirose, Yoshinori Tanino, Takefumi Nikaido, Toshio Ichiwata, Shinya Ohkouchi, Taizou Hirano, Toshinori Takada, Ryushi Tazawa, Konosuke Morimoto, Masahiro Takaki, Satoshi Konno, Masaru Suzuki, Keisuke Tomii, Atsushi Nakagawa, Tomohiro Handa, Kiminobu Tanizawa, Haruyuki Ishii, Manabu Ishida, Toshiyuki Kato, Naoya Takeda, Koshi Yokomura, Takashi Matsui, Akifumi Uchida, Hiromasa Inoue, Kazuyoshi Imaizumi, Yasuhiro Goto, Hiroshi Kida, Tomoyuki Fujisawa, Takafumi Suda, Takashi Yamada, Yasuomi Satake, Hidenori Ibata, Mika Saigusa, Toshihiro Shirai, Nobuyuki Hizawa, Koh Nakata, Shinichi Imafuku, Yayoi Tada, Yoshihide Asano, Shinichi Sato, Chikako Nishigori, Masatoshi Jinnin, Hironobu Ihn, Akihiko Asahina, Hidehisa Saeki, Tatsuyoshi Kawamura, Shinji Shimada, Ichiro Katayama, Hannah M Poisner, Taralynn M Mack, Alexander G Bick, Koichiro Higasa, Tatsusada Okuno, Hideki Mochizuki, Makoto Ishii, Ryuji Koike, Akinori Kimura, Emiko Noguchi, Shigetoshi Sano, Hidenori Inohara, Manabu Fujimoto, Yoshikazu Inoue, Etsuro Yamaguchi, Seishi Ogawa, Takanori Kanai, Akimichi Morita, Fumihiko Matsuda, Mayumi Tamari, Atsushi Kumanogoh, Yoshiya Tanaka, Koichiro Ohmura, Koichi Fukunaga, Seiya Imoto, Satoru Miyano, Nicholas F Parrish, Yukinori Okada

Nature genetics　2025/01/03　Research paper (scientific journal)

Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance.

Qingbo S Wang, Takanori Hasegawa, Ho Namkoong, Ryunosuke Saiki, Ryuya Edahiro, Kyuto Sonehara, Hiromu Tanaka, Shuhei Azekawa, Shotaro Chubachi, Yugo Takahashi, Saori Sakaue, Shinichi Namba, Kenichi Yamamoto, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Hideki Makishima, Yasuhito Nannya, Zicong Zhang, Rika Tsujikawa, Ryuji Koike, Tomomi Takano, Makoto Ishii, Akinori Kimura, Fumitaka Inoue, Takanori Kanai, Koichi Fukunaga, Seishi Ogawa, Seiya Imoto, Satoru Miyano, Yukinori Okada

Nature genetics　Vol. 56　No. 10　p. 2054-2067　2024/10　Research paper (scientific journal)

Primary Aldosteronism and Risk of Cardiovascular Outcomes: Genome‐Wide Association and Mendelian Randomization Study

Kosuke Inoue, Tatsuhiko Naito, Ryosuke Fuji, Kyuto Sonehara, Kenichi Yamamoto, Ryuta Baba, Takaya Kodama, Yu Otagaki, Akira Okada, Kiyotaka Itcho, Kazuhiro Kobuke, Haruya Ohno, Takayuki Morisaki, Noboru Hattori, Atsushi Goto, Tetsuo Nishikawa, Kenji Oki, Yukinori Okada

Journal of the American Heart Association　2024/08/05　Research paper (scientific journal)

Quantification of escape from X chromosome inactivation with single-cell omics data reveals heterogeneity across cell types and tissues

Tomofuji Y, Edahiro R, Sonehara K, Shirai Y, Kock KH, Wang QS, Namba S, Moody J, Ando Y, Suzuki A, Yata T, Ogawa K, Naito T, Namkoong H, Xuan Lin QX, Buyamin EV, Tan LM, Sonthalia R, Han KY, Tanaka H, Lee H, Asian Immune Diversity Atlas Network, Japan COVID, Task Force, The BioBank, Japan Projec, Okuno T, Liu B, Matsuda K, Fukunaga K, Mochizuki H, Park WY, Yamamoto K, Hon CC, Shin JW, Prabhakar S, Kumanogoh A, Okada Y

Cell Genomics　p. 100625-100625　2024/07　Research paper (scientific journal)

Body mass index stratification optimizes polygenic prediction of type 2 diabetes in cross-biobank analyses

Takafumi Ojima, Shinichi Namba, Ken Suzuki, Kenichi Yamamoto, Kyuto Sonehara, Akira Narita, Yoichiro Kamatani, Gen Tamiya, Masayuki Yamamoto, Toshimasa Yamauchi, Takashi Kadowaki, Yukinori Okada

Nature Genetics　2024/06/11　Research paper (scientific journal)

低ホスファターゼ症患児における成長障害の臨床的特性

藤原 誠, 植田 郁実, 石見 壮史, 山田 知絵子, 中野 由佳子, 山本 賢一, 中山 尋文, 大幡 泰久, 北岡 太一, 秋山 倫之, 大薗 恵一, 窪田 拓生

日本内分泌学会雑誌　Vol. 100　No. 1　p. 390-390　2024/05

軟骨低形成症に対する成長ホルモン投与が身長に及ぼす効果

中山 尋文, 窪田 拓生, 北岡 太一, 植田 郁実, 石見 壮史, 中道 龍哉, 山田 知絵子, 中野 由佳子, 齋藤 広幸, 山本 賢一, 藤原 誠, 大幡 泰久, 山村 なつみ, 道上 敏美, 山本 勝輔, 大薗 恵一

日本内分泌学会雑誌　Vol. 100　No. 1　p. 422-422　2024/05

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.

Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam, Henry J Taylor, Xianyong Yin, Kim M Lorenz, Ravi Mandla, Alicia Huerta-Chagoya, Giorgio E M Melloni, Stavroula Kanoni, Nigel W Rayner, Ozvan Bocher, Ana Luiza Arruda, Kyuto Sonehara, Shinichi Namba, Simon S K Lee, Michael H Preuss, Lauren E Petty, Philip Schroeder, Brett Vanderwerff, Mart Kals, Fiona Bragg, Kuang Lin, Xiuqing Guo, Weihua Zhang, Jie Yao, Young Jin Kim, Mariaelisa Graff, Fumihiko Takeuchi, Jana Nano, Amel Lamri, Masahiro Nakatochi, Sanghoon Moon, Robert A Scott, James P Cook, Jung-Jin Lee, Ian Pan, Daniel Taliun, Esteban J Parra, Jin-Fang Chai, Lawrence F Bielak, Yasuharu Tabara, Yang Hai, Gudmar Thorleifsson, Niels Grarup, Tamar Sofer, Matthias Wuttke, Chloé Sarnowski, Christian Gieger, Darryl Nousome, Stella Trompet, Soo-Heon Kwak, Jirong Long, Meng Sun, Lin Tong, Wei-Min Chen, Suraj S Nongmaithem, Raymond Noordam, Victor J Y Lim, Claudia H T Tam, Yoonjung Yoonie Joo, Chien-Hsiun Chen, Laura M Raffield, Bram Peter Prins, Aude Nicolas, Lisa R Yanek, Guanjie Chen, Jennifer A Brody, Edmond Kabagambe, Ping An, Anny H Xiang, Hyeok Sun Choi, Brian E Cade, Jingyi Tan, K Alaine Broadaway, Alice Williamson, Zoha Kamali, Jinrui Cui, Manonanthini Thangam, Linda S Adair, Adebowale Adeyemo, Carlos A Aguilar-Salinas, Tarunveer S Ahluwalia, Sonia S Anand, Alain Bertoni, Jette Bork-Jensen, Ivan Brandslund, Thomas A Buchanan, Charles F Burant, Adam S Butterworth, Mickaël Canouil, Juliana C N Chan, Li-Ching Chang, Miao-Li Chee, Ji Chen, Shyh-Huei Chen, Yuan-Tsong Chen, Zhengming Chen, Lee-Ming Chuang, Mary Cushman, John Danesh, Swapan K Das, H Janaka de Silva, George Dedoussis, Latchezar Dimitrov, Ayo P Doumatey, Shufa Du, Qing Duan, Kai-Uwe Eckardt, Leslie S Emery, Daniel S Evans, Michele K Evans, Krista Fischer, James S Floyd, Ian Ford, Oscar H Franco, Timothy M Frayling, Barry I Freedman, Pauline Genter, Hertzel C Gerstein, Vilmantas Giedraitis, Clicerio González-Villalpando, Maria Elena González-Villalpando, Penny Gordon-Larsen, Myron Gross, Lindsay A Guare, Sophie Hackinger, Liisa Hakaste, Sohee Han, Andrew T Hattersley, Christian Herder, Momoko Horikoshi, Annie-Green Howard, Willa Hsueh, Mengna Huang, Wei Huang, Yi-Jen Hung, Mi Yeong Hwang, Chii-Min Hwu, Sahoko Ichihara, Mohammad Arfan Ikram, Martin Ingelsson, Md Tariqul Islam, Masato Isono, Hye-Mi Jang, Farzana Jasmine, Guozhi Jiang, Jost B Jonas, Torben Jørgensen, Frederick K Kamanu, Fouad R Kandeel, Anuradhani Kasturiratne, Tomohiro Katsuya, Varinderpal Kaur, Takahisa Kawaguchi, Jacob M Keaton, Abel N Kho, Chiea-Chuen Khor, Muhammad G Kibriya, Duk-Hwan Kim, Florian Kronenberg, Johanna Kuusisto, Kristi Läll, Leslie A Lange, Kyung Min Lee, Myung-Shik Lee, Nanette R Lee, Aaron Leong, Liming Li, Yun Li, Ruifang Li-Gao, Symen Ligthart, Cecilia M Lindgren, Allan Linneberg, Ching-Ti Liu, Jianjun Liu, Adam E Locke, Tin Louie, Jian'an Luan, Andrea O Luk, Xi Luo, Jun Lv, Julie A Lynch, Valeriya Lyssenko, Shiro Maeda, Vasiliki Mamakou, Sohail Rafik Mansuri, Koichi Matsuda, Thomas Meitinger, Olle Melander, Andres Metspalu, Huan Mo, Andrew D Morris, Filipe A Moura, Jerry L Nadler, Michael A Nalls, Uma Nayak, Ioanna Ntalla, Yukinori Okada, Lorena Orozco, Sanjay R Patel, Snehal Patil, Pei Pei, Mark A Pereira, Annette Peters, Fraser J Pirie, Hannah G Polikowsky, Bianca Porneala, Gauri Prasad, Laura J Rasmussen-Torvik, Alexander P Reiner, Michael Roden, Rebecca Rohde, Katheryn Roll, Charumathi Sabanayagam, Kevin Sandow, Alagu Sankareswaran, Naveed Sattar, Sebastian Schönherr, Mohammad Shahriar, Botong Shen, Jinxiu Shi, Dong Mun Shin, Nobuhiro Shojima, Jennifer A Smith, Wing Yee So, Alena Stančáková, Valgerdur Steinthorsdottir, Adrienne M Stilp, Konstantin Strauch, Kent D Taylor, Barbara Thorand, Unnur Thorsteinsdottir, Brian Tomlinson, Tam C Tran, Fuu-Jen Tsai, Jaakko Tuomilehto, Teresa Tusie-Luna, Miriam S Udler, Adan Valladares-Salgado, Rob M van Dam, Jan B van Klinken, Rohit Varma, Niels Wacher-Rodarte, Eleanor Wheeler, Ananda R Wickremasinghe, Ko Willems van Dijk, Daniel R Witte, Chittaranjan S Yajnik, Ken Yamamoto, Kenichi Yamamoto, Kyungheon Yoon, Canqing Yu, Jian-Min Yuan, Salim Yusuf, Matthew Zawistowski, Liang Zhang, Wei Zheng, Leslie J Raffel, Michiya Igase, Eli Ipp, Susan Redline, Yoon Shin Cho, Lars Lind, Michael A Province, Myriam Fornage, Craig L Hanis, Erik Ingelsson, Alan B Zonderman, Bruce M Psaty, Ya-Xing Wang, Charles N Rotimi, Diane M Becker, Fumihiko Matsuda, Yongmei Liu, Mitsuhiro Yokota, Sharon L R Kardia, Patricia A Peyser, James S Pankow, James C Engert, Amélie Bonnefond, Philippe Froguel, James G Wilson, Wayne H H Sheu, Jer-Yuarn Wu, M Geoffrey Hayes, Ronald C W Ma, Tien-Yin Wong, Dennis O Mook-Kanamori, Tiinamaija Tuomi, Giriraj R Chandak, Francis S Collins, Dwaipayan Bharadwaj, Guillaume Paré, Michèle M Sale, Habibul Ahsan, Ayesha A Motala, Xiao-Ou Shu, Kyong-Soo Park, J Wouter Jukema, Miguel Cruz, Yii-Der Ida Chen, Stephen S Rich, Roberta McKean-Cowdin, Harald Grallert, Ching-Yu Cheng, Mohsen Ghanbari, E-Shyong Tai, Josee Dupuis, Norihiro Kato, Markku Laakso, Anna Köttgen, Woon-Puay Koh, Donald W Bowden, Colin N A Palmer, Jaspal S Kooner, Charles Kooperberg, Simin Liu, Kari E North, Danish Saleheen, Torben Hansen, Oluf Pedersen, Nicholas J Wareham, Juyoung Lee, Bong-Jo Kim, Iona Y Millwood, Robin G Walters, Kari Stefansson, Emma Ahlqvist, Mark O Goodarzi, Karen L Mohlke, Claudia Langenberg, Christopher A Haiman, Ruth J F Loos, Jose C Florez, Daniel J Rader, Marylyn D Ritchie, Sebastian Zöllner, Reedik Mägi, Nicholas A Marston, Christian T Ruff, David A van Heel, Sarah Finer, Joshua C Denny, Toshimasa Yamauchi, Takashi Kadowaki, John C Chambers, Maggie C Y Ng, Xueling Sim, Jennifer E Below, Philip S Tsao, Kyong-Mi Chang, Mark I McCarthy, James B Meigs, Anubha Mahajan, Cassandra N Spracklen, Josep M Mercader, Michael Boehnke, Jerome I Rotter, Marijana Vujkovic, Benjamin F Voight, Andrew P Morris, Eleftheria Zeggini

Nature　Vol. 627　No. 8003　p. 347-357　2024/03　Research paper (scientific journal)

成長ホルモン分泌を精査したMcCune-Albright syndromeの女児例

植田 郁実, 石見 壮史, 山田 知絵子, 中道 龍哉, 中野 由佳子, 山本 賢一, 中山 尋文, 藤原 誠, 大幡 泰久, 北岡 太一, 大薗 恵一, 窪田 拓生

近畿小児内分泌症例検討会プログラム・抄録集　Vol. 1回　p. 3-2　2024/02

X連鎖性低リン血症性くる病・骨軟化症(XLH)の小児期および成人期における臨床像

藤原 誠, 植田 郁実, 中道 龍哉, 石見 壮史, 齋藤 広幸, 山田 知絵子, 中野 由佳子, 中山 尋文, 山本 賢一, 大幡 泰久, 北岡 太一, 窪田 拓生, 大薗 恵一

日本小児科学会雑誌　Vol. 128　No. 2　p. 226-226　2024/02　Research paper (conference, symposium, etc.)

成長ホルモン分泌を精査したMcCune-Albright syndromeの女児例

植田 郁実, 石見 壮史, 山田 知絵子, 中道 龍哉, 中野 由佳子, 山本 賢一, 中山 尋文, 藤原 誠, 大幡 泰久, 北岡 太一, 大薗 恵一, 窪田 拓生

近畿小児内分泌症例検討会プログラム・抄録集　Vol. 1回　p. 3-2　2024/02　Research paper (conference, symposium, etc.)

HKDC1, a target of TFEB, is essential to maintain both mitochondrial and lysosomal homeostasis, preventing cellular senescence

Mengying Cui, Koji Yamano, Kenichi Yamamoto, Hitomi Yamamoto-Imoto, Satoshi Minami, Takeshi Yamamoto, Sho Matsui, Tatsuya Kaminishi, Takayuki Shima, Monami Ogura, Megumi Tsuchiya, Kohei Nishino, Brian T. Layden, Hisakazu Kato, Hidesato Ogawa, Shinya Oki, Yukinori Okada, Yoshitaka Isaka, Hidetaka Kosako, Noriyuki Matsuda, Tamotsu Yoshimori, Shuhei Nakamura

Proceedings of the National Academy of Sciences　Vol. 121　No. 2　2024/01/03　Research paper (scientific journal)

Analysis of gut microbiome, host genetics, and plasma metabolites reveals gut microbiome-host interactions in the Japanese population.

Yoshihiko Tomofuji, Toshihiro Kishikawa, Kyuto Sonehara, Yuichi Maeda, Kotaro Ogawa, Shuhei Kawabata, Eri Oguro-Igashira, Tatsusada Okuno, Takuro Nii, Makoto Kinoshita, Masatoshi Takagaki, Kenichi Yamamoto, Noriko Arase, Mayu Yagita-Sakamaki, Akiko Hosokawa, Daisuke Motooka, Yuki Matsumoto, Hidetoshi Matsuoka, Maiko Yoshimura, Shiro Ohshima, Shota Nakamura, Manabu Fujimoto, Hidenori Inohara, Haruhiko Kishima, Hideki Mochizuki, Kiyoshi Takeda, Atsushi Kumanogoh, Yukinori Okada

Cell reports　p. 113324-113324　2023/10/30　Research paper (scientific journal)

Extracting immunological and clinical heterogeneity across autoimmune rheumatic diseases by cohort-wide immunophenotyping.

Hiroaki Tanaka, Yukinori Okada, Shingo Nakayamada, Yusuke Miyazaki, Kyuto Sonehara, Shinichi Namba, Suguru Honda, Yuya Shirai, Kenichi Yamamoto, Satoshi Kubo, Katsunori Ikari, Masayoshi Harigai, Koshiro Sonomoto, Yoshiya Tanaka

Annals of the rheumatic diseases　2023/10/30　Research paper (scientific journal)

Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins

Jumpei Taniguchi, Tatsuo Masuda, Yoshinori Iwatani, Kenichi Yamamoto, Norio Sakai, Yukinori Okada, Mikio Watanabe

Clinical Genetics　Vol. 105　No. 2　p. 159-172　2023/10/29　Research paper (scientific journal)

40代で酵素補充療法導入となった乳児型低ホスファターゼ症男性例

大幡 泰久, 中野 由佳子, 山本 賢一, 藤原 誠, 北岡 太一, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 99　No. 2　p. 606-606　2023/10　Research paper (conference, symposium, etc.)

全エクソーム解析で病的バリアント未同定な骨形成不全症患者に対するゲノム解析の有用性の検討

山本 賢一, 大幡 泰久, 藤原 誠, 武鑓 真司, 石見 壮史, 山田 知絵子, 齋藤 広幸, 中野 由佳子, 中山 尋文, 北岡 太一, 窪田 拓生, 大薗 恵一

日本骨代謝学会学術集会プログラム抄録集　Vol. 41回　p. 155-155　2023/07　Research paper (conference, symposium, etc.)

本邦におけるFGF23関連低リン血症性くる病・骨軟化症患者の臨床像の解析

藤原 誠, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 中山 尋文, 大幡 泰久, 北岡 太一, 窪田 拓生, 大薗 恵一

日本骨代謝学会学術集会プログラム抄録集　Vol. 41回　p. 175-175　2023/07　Research paper (conference, symposium, etc.)

Genome-wide association study identifies risk loci within the major histocompatibility complex region for Hunner-type interstitial cystitis

Yoshiyuki Akiyama, Kyuto Sonehara, Daichi Maeda, Hiroto Katoh, Tatsuhiko Naito, Kenichi Yamamoto, Takayuki Morisaki, Shumpei Ishikawa, Tetsuo Ushiku, Haruki Kume, Yukio Homma, Yukinori Okada, Koichi Matsuda, Yuji Yamanashi, Yoichi Furukawa, Takayuki Morisaki, Yoshinori Murakami, Yoichiro Kamatani, Kaori Muto, Akiko Nagai, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Sinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune

Cell Reports Medicine　Vol. 4　No. 7　p. 101114-101114　2023/07　Research paper (scientific journal)

Reconstruction of the personal information from human genome reads in gut metagenome sequencing data.

Yoshihiko Tomofuji, Kyuto Sonehara, Toshihiro Kishikawa, Yuichi Maeda, Kotaro Ogawa, Shuhei Kawabata, Takuro Nii, Tatsusada Okuno, Eri Oguro-Igashira, Makoto Kinoshita, Masatoshi Takagaki, Kenichi Yamamoto, Takashi Kurakawa, Mayu Yagita-Sakamaki, Akiko Hosokawa, Daisuke Motooka, Yuki Matsumoto, Hidetoshi Matsuoka, Maiko Yoshimura, Shiro Ohshima, Shota Nakamura, Hidenori Inohara, Haruhiko Kishima, Hideki Mochizuki, Kiyoshi Takeda, Atsushi Kumanogoh, Yukinori Okada

Nature microbiology　Vol. 8　No. 6　p. 1079-1094　2023/05/15　Research paper (scientific journal)

当科XLH患者に対するブロスマブ治療長期効果の検討

大幡 泰久, 山田 知絵子, 中野 由佳子, 山本 賢一, 武鑓 真司, 藤原 誠, 北岡 太一, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 99　No. 1　p. 329-329　2023/05　Research paper (conference, symposium, etc.)

Single-cell analyses and host genetics highlight the role of innate immune cells in COVID-19 severity

Ryuya Edahiro, Yuya Shirai, Yusuke Takeshima, Shuhei Sakakibara, Yuta Yamaguchi, Teruaki Murakami, Takayoshi Morita, Yasuhiro Kato, Yu-Chen Liu, Daisuke Motooka, Yoko Naito, Ayako Takuwa, Fuminori Sugihara, Kentaro Tanaka, James B. Wing, Kyuto Sonehara, Yoshihiko Tomofuji, Qingbo S. Wang, Takanori Hasegawa, Ryunosuke Saiki, Takayoshi Hyugaji, Eigo Shimizu, Kotoe Katayama, Masahiro Kanai, Tatsuhiko Naito, Noah Sasa, Kenichi Yamamoto, Kazuhisa Takahashi, Norihiro Harada, Toshio Naito, Makoto Hiki, Yasushi Matsushita, Haruhi Takagi, Masako Ichikawa, Ai Nakamura, Sonoko Harada, Yuuki Sandhu, Hiroki Kabata, Katsunori Masaki, Hirofumi Kamata, Shinnosuke Ikemura, Shotaro Chubachi, Satoshi Okamori, Hideki Terai, Atsuho Morita, Takanori Asakura, Junichi Sasaki, Hiroshi Morisaki, Yoshifumi Uwamino, Kosaku Nanki, Sho Uchida, Shunsuke Uno, Tomoyasu Nishimura, Takashi Ishiguro, Taisuke Isono, Shun Shibata, Yuma Matsui, Chiaki Hosoda, Kenji Takano, Takashi Nishida, Yoichi Kobayashi, Yotaro Takaku, Noboru Takayanagi, Soichiro Ueda, Ai Tada, Masayoshi Miyawaki, Masaomi Yamamoto, Eriko Yoshida, Reina Hayashi, Tomoki Nagasaka, Sawako Arai, Yutaro Kaneko, Kana Sasaki, Etsuko Tagaya, Masatoshi Kawana, Ken Arimura, Kunihiko Takahashi, Tatsuhiko Anzai, Satoshi Ito, Akifumi Endo, Yuji Uchimura, Yasunari Miyazaki, Takayuki Honda, Tomoya Tateishi, Shuji Tohda, Naoya Ichimura, Kazunari Sonobe, Chihiro Tani Sassa, Jun Nakajima, Yasushi Nakano, Yukiko Nakajima, Ryusuke Anan, Ryosuke Arai, Yuko Kurihara, Yuko Harada, Kazumi Nishio, Tetsuya Ueda, Masanori Azuma, Ryuichi Saito, Toshikatsu Sado, Yoshimune Miyazaki, Ryuichi Sato, Yuki Haruta, Tadao Nagasaki, Yoshinori Yasui, Yoshinori Hasegawa, Yoshikazu Mutoh, Tomoki Kimura, Tomonori Sato, Reoto Takei, Satoshi Hagimoto, Yoichiro Noguchi, Yasuhiko Yamano, Hajime Sasano, Sho Ota, Yasushi Nakamori, Kazuhisa Yoshiya, Fukuki Saito, Tomoyuki Yoshihara, Daiki Wada, Hiromu Iwamura, Syuji Kanayama, Shuhei Maruyama, Takashi Yoshiyama, Ken Ohta, Hiroyuki Kokuto, Hideo Ogata, Yoshiaki Tanaka, Kenichi Arakawa, Masafumi Shimoda, Takeshi Osawa, Hiroki Tateno, Isano Hase, Shuichi Yoshida, Shoji Suzuki, Miki Kawada, Hirohisa Horinouchi, Fumitake Saito, Keiko Mitamura, Masao Hagihara, Junichi Ochi, Tomoyuki Uchida, Rie Baba, Daisuke Arai, Takayuki Ogura, Hidenori Takahashi, Shigehiro Hagiwara, Genta Nagao, Shunichiro Konishi, Ichiro Nakachi, Koji Murakami, Mitsuhiro Yamada, Hisatoshi Sugiura, Hirohito Sano, Shuichiro Matsumoto, Nozomu Kimura, Yoshinao Ono, Hiroaki Baba, Yusuke Suzuki, Sohei Nakayama, Keita Masuzawa, Shinichi Namba, Takayuki Shiroyama, Yoshimi Noda, Takayuki Niitsu, Yuichi Adachi, Takatoshi Enomoto, Saori Amiya, Reina Hara, Tomoki Kuge, Kinnosuke Matsumoto, Yuji Yamamoto, Makoto Yamamoto, Midori Yoneda, Kazunori Tomono, Kazuto Kato, Hidefumi Koh, Tadashi Manabe, Yohei Funatsu, Fumimaro Ito, Takahiro Fukui, Keisuke Shinozuka, Sumiko Kohashi, Masatoshi Miyazaki, Tomohisa Shoko, Mitsuaki Kojima, Tomohiro Adachi, Motonao Ishikawa, Kenichiro Takahashi, Takashi Inoue, Toshiyuki Hirano, Keigo Kobayashi, Hatsuyo Takaoka, Kazuyoshi Watanabe, Naoki Miyazawa, Yasuhiro Kimura, Reiko Sado, Hideyasu Sugimoto, Akane Kamiya, Naota Kuwahara, Akiko Fujiwara, Tomohiro Matsunaga, Yoko Sato, Takenori Okada, Yoshihiro Hirai, Hidetoshi Kawashima, Atsuya Narita, Kazuki Niwa, Yoshiyuki Sekikawa, Koichi Nishi, Masaru Nishitsuji, Mayuko Tani, Junya Suzuki, Hiroki Nakatsumi, Takashi Ogura, Hideya Kitamura, Eri Hagiwara, Kota Murohashi, Hiroko Okabayashi, Takao Mochimaru, Shigenari Nukaga, Ryosuke Satomi, Yoshitaka Oyamada, Nobuaki Mori, Tomoya Baba, Yasutaka Fukui, Mitsuru Odate, Shuko Mashimo, Yasushi Makino, Kazuma Yagi, Mizuha Hashiguchi, Junko Kagyo, Tetsuya Shiomi, Satoshi Fuke, Hiroshi Saito, Tomoya Tsuchida, Shigeki Fujitani, Mumon Takita, Daiki Morikawa, Toru Yoshida, Takehiro Izumo, Minoru Inomata, Naoyuki Kuse, Nobuyasu Awano, Mari Tone, Akihiro Ito, Yoshihiko Nakamura, Kota Hoshino, Junichi Maruyama, Hiroyasu Ishikura, Tohru Takata, Toshio Odani, Masaru Amishima, Takeshi Hattori, Yasuo Shichinohe, Takashi Kagaya, Toshiyuki Kita, Kazuhide Ohta, Satoru Sakagami, Kiyoshi Koshida, Kentaro Hayashi, Tetsuo Shimizu, Yutaka Kozu, Hisato Hiranuma, Yasuhiro Gon, Namiki Izumi, Kaoru Nagata, Ken Ueda, Reiko Taki, Satoko Hanada, Kodai Kawamura, Kazuya Ichikado, Kenta Nishiyama, Hiroyuki Muranaka, Kazunori Nakamura, Naozumi Hashimoto, Keiko Wakahara, Sakamoto Koji, Norihito Omote, Akira Ando, Nobuhiro Kodama, Yasunari Kaneyama, Shunsuke Maeda, Takashige Kuraki, Takemasa Matsumoto, Koutaro Yokote, Taka-Aki Nakada, Ryuzo Abe, Taku Oshima, Tadanaga Shimada, Masahiro Harada, Takeshi Takahashi, Hiroshi Ono, Toshihiro Sakurai, Takayuki Shibusawa, Yoshifumi Kimizuka, Akihiko Kawana, Tomoya Sano, Chie Watanabe, Ryohei Suematsu, Hisako Sageshima, Ayumi Yoshifuji, Kazuto Ito, Saeko Takahashi, Kota Ishioka, Morio Nakamura, Makoto Masuda, Aya Wakabayashi, Hiroki Watanabe, Suguru Ueda, Masanori Nishikawa, Yusuke Chihara, Mayumi Takeuchi, Keisuke Onoi, Jun Shinozuka, Atsushi Sueyoshi, Yoji Nagasaki, Masaki Okamoto, Sayoko Ishihara, Masatoshi Shimo, Yoshihisa Tokunaga, Yu Kusaka, Takehiko Ohba, Susumu Isogai, Aki Ogawa, Takuya Inoue, Satoru Fukuyama, Yoshihiro Eriguchi, Akiko Yonekawa, Keiko Kan-o, Koichiro Matsumoto, Kensuke Kanaoka, Shoichi Ihara, Kiyoshi Komuta, Yoshiaki Inoue, Shigeru Chiba, Kunihiro Yamagata, Yuji Hiramatsu, Hirayasu Kai, Koichiro Asano, Tsuyoshi Oguma, Yoko Ito, Satoru Hashimoto, Masaki Yamasaki, Yu Kasamatsu, Yuko Komase, Naoya Hida, Takahiro Tsuburai, Baku Oyama, Minoru Takada, Hidenori Kanda, Yuichiro Kitagawa, Tetsuya Fukuta, Takahito Miyake, Shozo Yoshida, Shinji Ogura, Shinji Abe, Yuta Kono, Yuki Togashi, Hiroyuki Takoi, Ryota Kikuchi, Shinichi Ogawa, Tomouki Ogata, Shoichiro Ishihara, Arihiko Kanehiro, Shinji Ozaki, Yasuko Fuchimoto, Sae Wada, Nobukazu Fujimoto, Kei Nishiyama, Mariko Terashima, Satoru Beppu, Kosuke Yoshida, Osamu Narumoto, Hideaki Nagai, Nobuharu Ooshima, Mitsuru Motegi, Akira Umeda, Kazuya Miyagawa, Hisato Shimada, Mayu Endo, Yoshiyuki Ohira, Masafumi Watanabe, Sumito Inoue, Akira Igarashi, Masamichi Sato, Hironori Sagara, Akihiko Tanaka, Shin Ohta, Tomoyuki Kimura, Yoko Shibata, Yoshinori Tanino, Takefumi Nikaido, Hiroyuki Minemura, Yuki Sato, Yuichiro Yamada, Takuya Hashino, Masato Shinoki, Hajime Iwagoe, Hiroshi Takahashi, Kazuhiko Fujii, Hiroto Kishi, Masayuki Kanai, Tomonori Imamura, Tatsuya Yamashita, Masakiyo Yatomi, Toshitaka Maeno, Shinichi Hayashi, Mai Takahashi, Mizuki Kuramochi, Isamu Kamimaki, Yoshiteru Tominaga, Tomoo Ishii, Mitsuyoshi Utsugi, Akihiro Ono, Toru Tanaka, Takeru Kashiwada, Kazue Fujita, Yoshinobu Saito, Masahiro Seike, Hiroko Watanabe, Hiroto Matsuse, Norio Kodaka, Chihiro Nakano, Takeshi Oshio, Takatomo Hirouchi, Shohei Makino, Moritoki Egi, Yosuke Omae, Yasuhito Nannya, Takafumi Ueno, Tomomi Takano, Kazuhiko Katayama, Masumi Ai, Toshiro Sato, Naoki Hasegawa, Katsushi Tokunaga, Makoto Ishii, Ryuji Koike, Yuko Kitagawa, Akinori Kimura, Seiya Imoto, Satoru Miyano, Seishi Ogawa, Takanori Kanai, Ho Namkoong, Hiromu Tanaka, Ho Lee, Koichi Fukunaga, Haruhiko Hirata, Yoshito Takeda, Daisuke Okuzaki, Atsushi Kumanogoh, Yukinori Okada

Nature Genetics　Vol. 55　No. 5　p. 753-767　2023/04/24　Research paper (scientific journal)

Genetic Risk of Primary Aldosteronism and Its Contribution to Hypertension: A Cross-Ancestry Meta-Analysis of Genome-Wide Association Study

Tatsuhiko Naito, Kosuke Inoue, Kyuto Sonehara, Ryuta Baba, Takaya Kodama, Yu Otagaki, Akira Okada, Kiyotaka Itcho, Kazuhiro Kobuke, Shinji Kishimoto, Kenichi Yamamoto, Takayuki Morisaki, Yukihito Higashi, Nobuyuki Hinata, Koji Arihiro, Noboru Hattori, Yukinori Okada, Kenji Oki

Circulation　2023/02/21　Research paper (scientific journal)

酸素補充療法を施行した周産期重症型低ホスファターゼ症症例の長期経過

中山 尋文, 北岡 太一, 石見 壮史, 山田 知絵子, 中野 由佳子, 武鑓 真司, 山本 賢一, 藤原 誠, 大幡 泰久, 窪田 拓生, 大薗 恵一

日本小児科学会雑誌　Vol. 127　No. 2　p. 199-199　2023/02　Research paper (conference, symposium, etc.)

Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study.

Yasuhisa Ohata, Taichi Kitaoka, Takeshi Ishimi, Chieko Yamada, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Hirofumi Nakayama, Makoto Fujiwara, Takuo Kubota, Keiichi Ozono

PloS one　Vol. 18　No. 8　2023　Research paper (scientific journal)

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.

Shinji Takeyari, Kenichi Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Taichi Kitaoka, Takuo Kubota, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Keiichi Ozono

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology　Vol. 32　No. 2　p. 105-109　2023　Research paper (scientific journal)

Prokaryotic and viral genomes recovered from 787 Japanese gut metagenomes revealed microbial features linked to diets, populations, and diseases

Yoshihiko Tomofuji, Toshihiro Kishikawa, Yuichi Maeda, Kotaro Ogawa, Yuriko Otake-Kasamoto, Shuhei Kawabata, Takuro Nii, Tatsusada Okuno, Eri Oguro-Igashira, Makoto Kinoshita, Masatoshi Takagaki, Naoki Oyama, Kenichi Todo, Kenichi Yamamoto, Kyuto Sonehara, Mayu Yagita, Akiko Hosokawa, Daisuke Motooka, Yuki Matsumoto, Hidetoshi Matsuoka, Maiko Yoshimura, Shiro Ohshima, Shinichiro Shinzaki, Shota Nakamura, Hideki Iijima, Hidenori Inohara, Haruhiko Kishima, Tetsuo Takehara, Hideki Mochizuki, Kiyoshi Takeda, Atsushi Kumanogoh, Yukinori Okada

Cell Genomics　Vol. 2　No. 12　2022/12/14　Research paper (scientific journal)

Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.

Yasuhisa Ohata, Haruna Kakimoto, Yuko Seki, Yasuki Ishihara, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Makoto Fujiwara, Taichi Kitaoka, Satoshi Takakuwa, Takuo Kubota, Keiichi Ozono

Bone reports　Vol. 17　p. 101637-101637　2022/12　Research paper (scientific journal)

A common deletion at BAK1 reduces enhancer activity and confers risk of intracranial germ cell tumors

Kyuto Sonehara, Yui Kimura, Yoshiko Nakano, Tatsuya Ozawa, Meiko Takahashi, Ken Suzuki, Takashi Fujii, Yuko Matsushita, Arata Tomiyama, Toshihiro Kishikawa, Kenichi Yamamoto, Tatsuhiko Naito, Tomonari Suzuki, Shigeru Yamaguchi, Tomoru Miwa, Hikaru Sasaki, Masashi Kitagawa, Naoyuki Ohe, Junya Fukai, Hideki Ogiwara, Atsufumi Kawamura, Satoru Miyawaki, Fumihiko Matsuda, Nobutaka Kiyokawa, Koichi Ichimura, Ryo Nishikawa, Yukinori Okada, Keita Terashima

Nature Communications　Vol. 13　No. 1　p. 4478-4478　2022/12　Research paper (scientific journal)

Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.

Kazuyoshi Ishigaki, Saori Sakaue, Chikashi Terao, Yang Luo, Kyuto Sonehara, Kensuke Yamaguchi, Tiffany Amariuta, Chun Lai Too, Vincent A Laufer, Ian C Scott, Sebastien Viatte, Meiko Takahashi, Koichiro Ohmura, Akira Murasawa, Motomu Hashimoto, Hiromu Ito, Mohammed Hammoudeh, Samar Al Emadi, Basel K Masri, Hussein Halabi, Humeira Badsha, Imad W Uthman, Xin Wu, Li Lin, Ting Li, Darren Plant, Anne Barton, Gisela Orozco, Suzanne M M Verstappen, John Bowes, Alexander J MacGregor, Suguru Honda, Masaru Koido, Kohei Tomizuka, Yoichiro Kamatani, Hiroaki Tanaka, Eiichi Tanaka, Akari Suzuki, Yuichi Maeda, Kenichi Yamamoto, Satoru Miyawaki, Gang Xie, Jinyi Zhang, Christopher I Amos, Edward Keystone, Gertjan Wolbink, Irene van der Horst-Bruinsma, Jing Cui, Katherine P Liao, Robert J Carroll, Hye-Soon Lee, So-Young Bang, Katherine A Siminovitch, Niek de Vries, Lars Alfredsson, Solbritt Rantapää-Dahlqvist, Elizabeth W Karlson, Sang-Cheol Bae, Robert P Kimberly, Jeffrey C Edberg, Xavier Mariette, Tom Huizinga, Philippe Dieudé, Matthias Schneider, Martin Kerick, Joshua C Denny, Koichi Matsuda, Keitaro Matsuo, Tsuneyo Mimori, Fumihiko Matsuda, Keishi Fujio, Yoshiya Tanaka, Atsushi Kumanogoh, Matthew Traylor, Cathryn M Lewis, Stephen Eyre, Huji Xu, Richa Saxena, Thurayya Arayssi, Yuta Kochi, Katsunori Ikari, Masayoshi Harigai, Peter K Gregersen, Kazuhiko Yamamoto, S Louis Bridges Jr, Leonid Padyukov, Javier Martin, Lars Klareskog, Yukinori Okada, Soumya Raychaudhuri

Nature genetics　Vol. 54　No. 11　p. 1640-1651　2022/11　Research paper (scientific journal)

Author Correction: LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury.

Shuhei Nakamura, Saki Shigeyama, Satoshi Minami, Takayuki Shima, Shiori Akayama, Tomoki Matsuda, Alessandra Esposito, Gennaro Napolitano, Akiko Kuma, Tomoko Namba-Hamano, Jun Nakamura, Kenichi Yamamoto, Miwa Sasai, Ayaka Tokumura, Mika Miyamoto, Yukako Oe, Toshiharu Fujita, Seigo Terawaki, Atsushi Takahashi, Maho Hamasaki, Masahiro Yamamoto, Yukinori Okada, Masaaki Komatsu, Takeharu Nagai, Yoshitsugu Takabatake, Haoxing Xu, Yoshitaka Isaka, Andrea Ballabio, Tamotsu Yoshimori

Nature cell biology　Vol. 24　No. 11　p. 1677-1679　2022/10/04

クローン性造血と新型コロナ感染症重症化リスクの関連性

佐伯 龍之介, 枝廣 龍哉, 曽根原 究人, 王 青波, 南宮 湖, 田中 拓, 阿瀬川 周平, 中鉢 正太郎, 難波 真一, 山本 賢一, 垣内 伸之, 白石 友一, 千葉 健一, 田中 洋子, 牧島 秀樹, 南谷 泰仁, 小池 竜司, 高野 友美, 石井 誠, 木村 彰方, 井元 清哉, 宮野 悟, 金井 隆典, 福永 興壱, 岡田 随象, 小川 誠司

日本血液学会学術集会　Vol. 84回　p. 51-51　2022/10

海綿骨スコアと骨塩見かけ密度は小児骨形成不全症の骨評価に有用

大幡 泰久, 北岡 太一, 石見 壮史, 山田 知絵子, 中野 由佳子, 武鑓 真司, 山本 賢一, 中山 尋文, 藤原 誠, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 98　No. 2　p. 556-556　2022/10

The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force.

Qingbo S Wang, Ryuya Edahiro, Ho Namkoong, Takanori Hasegawa, Yuya Shirai, Kyuto Sonehara, Hiromu Tanaka, Ho Lee, Ryunosuke Saiki, Takayoshi Hyugaji, Eigo Shimizu, Kotoe Katayama, Masahiro Kanai, Tatsuhiko Naito, Noah Sasa, Kenichi Yamamoto, Yasuhiro Kato, Takayoshi Morita, Kazuhisa Takahashi, Norihiro Harada, Toshio Naito, Makoto Hiki, Yasushi Matsushita, Haruhi Takagi, Masako Ichikawa, Ai Nakamura, Sonoko Harada, Yuuki Sandhu, Hiroki Kabata, Katsunori Masaki, Hirofumi Kamata, Shinnosuke Ikemura, Shotaro Chubachi, Satoshi Okamori, Hideki Terai, Atsuho Morita, Takanori Asakura, Junichi Sasaki, Hiroshi Morisaki, Yoshifumi Uwamino, Kosaku Nanki, Sho Uchida, Shunsuke Uno, Tomoyasu Nishimura, Takashri Ishiguro, Taisuke Isono, Shun Shibata, Yuma Matsui, Chiaki Hosoda, Kenji Takano, Takashi Nishida, Yoichi Kobayashi, Yotaro Takaku, Noboru Takayanagi, Soichiro Ueda, Ai Tada, Masayoshi Miyawaki, Masaomi Yamamoto, Eriko Yoshida, Reina Hayashi, Tomoki Nagasaka, Sawako Arai, Yutaro Kaneko, Kana Sasaki, Etsuko Tagaya, Masatoshi Kawana, Ken Arimura, Kunihiko Takahashi, Tatsuhiko Anzai, Satoshi Ito, Akifumi Endo, Yuji Uchimura, Yasunari Miyazaki, Takayuki Honda, Tomoya Tateishi, Shuji Tohda, Naoya Ichimura, Kazunari Sonobe, Chihiro Tani Sassa, Jun Nakajima, Yasushi Nakano, Yukiko Nakajima, Ryusuke Anan, Ryosuke Arai, Yuko Kurihara, Yuko Harada, Kazumi Nishio, Tetsuya Ueda, Masanori Azuma, Ryuichi Saito, Toshikatsu Sado, Yoshimune Miyazaki, Ryuichi Sato, Yuki Haruta, Tadao Nagasaki, Yoshinori Yasui, Yoshinori Hasegawa, Yoshikazu Mutoh, Tomoki Kimura, Tomonori Sato, Reoto Takei, Satoshi Hagimoto, Yoichiro Noguchi, Yasuhiko Yamano, Hajime Sasano, Sho Ota, Yasushi Nakamori, Kazuhisa Yoshiya, Fukuki Saito, Tomoyuki Yoshihara, Daiki Wada, Hiromu Iwamura, Syuji Kanayama, Shuhei Maruyama, Takashi Yoshiyama, Ken Ohta, Hiroyuki Kokuto, Hideo Ogata, Yoshiaki Tanaka, Kenichi Arakawa, Masafumi Shimoda, Takeshi Osawa, Hiroki Tateno, Isano Hase, Shuichi Yoshida, Shoji Suzuki, Miki Kawada, Hirohisa Horinouchi, Fumitake Saito, Keiko Mitamura, Masao Hagihara, Junichi Ochi, Tomoyuki Uchida, Rie Baba, Daisuke Arai, Takayuki Ogura, Hidenori Takahashi, Shigehiro Hagiwara, Genta Nagao, Shunichiro Konishi, Ichiro Nakachi, Koji Murakami, Mitsuhiro Yamada, Hisatoshi Sugiura, Hirohito Sano, Shuichiro Matsumoto, Nozomu Kimura, Yoshinao Ono, Hiroaki Baba, Yusuke Suzuki, Sohei Nakayama, Keita Masuzawa, Shinichi Namba, Takayuki Shiroyama, Yoshimi Noda, Takayuki Niitsu, Yuichi Adachi, Takatoshi Enomoto, Saori Amiya, Reina Hara, Yuta Yamaguchi, Teruaki Murakami, Tomoki Kuge, Kinnosuke Matsumoto, Yuji Yamamoto, Makoto Yamamoto, Midori Yoneda, Kazunori Tomono, Kazuto Kato, Haruhiko Hirata, Yoshito Takeda, Hidefumi Koh, Tadashi Manabe, Yohei Funatsu, Fumimaro Ito, Takahiro Fukui, Keisuke Shinozuka, Sumiko Kohashi, Masatoshi Miyazaki, Tomohisa Shoko, Mitsuaki Kojima, Tomohiro Adachi, Motonao Ishikawa, Kenichiro Takahashi, Takashi Inoue, Toshiyuki Hirano, Keigo Kobayashi, Hatsuyo Takaoka, Kazuyoshi Watanabe, Naoki Miyazawa, Yasuhiro Kimura, Reiko Sado, Hideyasu Sugimoto, Akane Kamiya, Naota Kuwahara, Akiko Fujiwara, Tomohiro Matsunaga, Yoko Sato, Takenori Okada, Yoshihiro Hirai, Hidetoshi Kawashima, Atsuya Narita, Kazuki Niwa, Yoshiyuki Sekikawa, Koichi Nishi, Masaru Nishitsuji, Mayuko Tani, Junya Suzuki, Hiroki Nakatsumi, Takashi Ogura, Hideya Kitamura, Eri Hagiwara, Kota Murohashi, Hiroko Okabayashi, Takao Mochimaru, Shigenari Nukaga, Ryosuke Satomi, Yoshitaka Oyamada, Nobuaki Mori, Tomoya Baba, Yasutaka Fukui, Mitsuru Odate, Shuko Mashimo, Yasushi Makino, Kazuma Yagi, Mizuha Hashiguchi, Junko Kagyo, Tetsuya Shiomi, Satoshi Fuke, Hiroshi Saito, Tomoya Tsuchida, Shigeki Fujitani, Mumon Takita, Daiki Morikawa, Toru Yoshida, Takehiro Izumo, Minoru Inomata, Naoyuki Kuse, Nobuyasu Awano, Mari Tone, Akihiro Ito, Yoshihiko Nakamura, Kota Hoshino, Junichi Maruyama, Hiroyasu Ishikura, Tohru Takata, Toshio Odani, Masaru Amishima, Takeshi Hattori, Yasuo Shichinohe, Takashi Kagaya, Toshiyuki Kita, Kazuhide Ohta, Satoru Sakagami, Kiyoshi Koshida, Kentaro Hayashi, Tetsuo Shimizu, Yutaka Kozu, Hisato Hiranuma, Yasuhiro Gon, Namiki Izumi, Kaoru Nagata, Ken Ueda, Reiko Taki, Satoko Hanada, Kodai Kawamura, Kazuya Ichikado, Kenta Nishiyama, Hiroyuki Muranaka, Kazunori Nakamura, Naozumi Hashimoto, Keiko Wakahara, Sakamoto Koji, Norihito Omote, Akira Ando, Nobuhiro Kodama, Yasunari Kaneyama, Shunsuke Maeda, Takashige Kuraki, Takemasa Matsumoto, Koutaro Yokote, Taka-Aki Nakada, Ryuzo Abe, Taku Oshima, Tadanaga Shimada, Masahiro Harada, Takeshi Takahashi, Hiroshi Ono, Toshihiro Sakurai, Takayuki Shibusawa, Yoshifumi Kimizuka, Akihiko Kawana, Tomoya Sano, Chie Watanabe, Ryohei Suematsu, Hisako Sageshima, Ayumi Yoshifuji, Kazuto Ito, Saeko Takahashi, Kota Ishioka, Morio Nakamura, Makoto Masuda, Aya Wakabayashi, Hiroki Watanabe, Suguru Ueda, Masanori Nishikawa, Yusuke Chihara, Mayumi Takeuchi, Keisuke Onoi, Jun Shinozuka, Atsushi Sueyoshi, Yoji Nagasaki, Masaki Okamoto, Sayoko Ishihara, Masatoshi Shimo, Yoshihisa Tokunaga, Yu Kusaka, Takehiko Ohba, Susumu Isogai, Aki Ogawa, Takuya Inoue, Satoru Fukuyama, Yoshihiro Eriguchi, Akiko Yonekawa, Keiko Kan-O, Koichiro Matsumoto, Kensuke Kanaoka, Shoichi Ihara, Kiyoshi Komuta, Yoshiaki Inoue, Shigeru Chiba, Kunihiro Yamagata, Yuji Hiramatsu, Hirayasu Kai, Koichiro Asano, Tsuyoshi Oguma, Yoko Ito, Satoru Hashimoto, Masaki Yamasaki, Yu Kasamatsu, Yuko Komase, Naoya Hida, Takahiro Tsuburai, Baku Oyama, Minoru Takada, Hidenori Kanda, Yuichiro Kitagawa, Tetsuya Fukuta, Takahito Miyake, Shozo Yoshida, Shinji Ogura, Shinji Abe, Yuta Kono, Yuki Togashi, Hiroyuki Takoi, Ryota Kikuchi, Shinichi Ogawa, Tomouki Ogata, Shoichiro Ishihara, Arihiko Kanehiro, Shinji Ozaki, Yasuko Fuchimoto, Sae Wada, Nobukazu Fujimoto, Kei Nishiyama, Mariko Terashima, Satoru Beppu, Kosuke Yoshida, Osamu Narumoto, Hideaki Nagai, Nobuharu Ooshima, Mitsuru Motegi, Akira Umeda, Kazuya Miyagawa, Hisato Shimada, Mayu Endo, Yoshiyuki Ohira, Masafumi Watanabe, Sumito Inoue, Akira Igarashi, Masamichi Sato, Hironori Sagara, Akihiko Tanaka, Shin Ohta, Tomoyuki Kimura, Yoko Shibata, Yoshinori Tanino, Takefumi Nikaido, Hiroyuki Minemura, Yuki Sato, Yuichiro Yamada, Takuya Hashino, Masato Shinoki, Hajime Iwagoe, Hiroshi Takahashi, Kazuhiko Fujii, Hiroto Kishi, Masayuki Kanai, Tomonori Imamura, Tatsuya Yamashita, Masakiyo Yatomi, Toshitaka Maeno, Shinichi Hayashi, Mai Takahashi, Mizuki Kuramochi, Isamu Kamimaki, Yoshiteru Tominaga, Tomoo Ishii, Mitsuyoshi Utsugi, Akihiro Ono, Toru Tanaka, Takeru Kashiwada, Kazue Fujita, Yoshinobu Saito, Masahiro Seike, Hiroko Watanabe, Hiroto Matsuse, Norio Kodaka, Chihiro Nakano, Takeshi Oshio, Takatomo Hirouchi, Shohei Makino, Moritoki Egi, Yosuke Omae, Yasuhito Nannya, Takafumi Ueno, Tomomi Takano, Kazuhiko Katayama, Masumi Ai, Atsushi Kumanogoh, Toshiro Sato, Naoki Hasegawa, Katsushi Tokunaga, Makoto Ishii, Ryuji Koike, Yuko Kitagawa, Akinori Kimura, Seiya Imoto, Satoru Miyano, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada

Nature communications　Vol. 13　No. 1　p. 4830-4830　2022/08/22　Research paper (scientific journal)

低ホスファターゼ症患児における成長障害とALP活性低下の影響の解析

藤原 誠, 石見 壮史, 山田 知絵子, 中野 由佳子, 武鑓 真司, 山本 賢一, 中山 尋文, 大幡 泰久, 北岡 太一, 秋山 倫之, 窪田 拓生, 大薗 恵一

日本骨粗鬆症学会雑誌　Vol. 8　No. Suppl.1　p. 195-195　2022/08　Research paper (conference, symposium, etc.)

測定法変更に伴う血清アルカリホスファターゼ値の評価について

北岡 太一, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 中山 尋文, 藤原 誠, 大幡 泰久, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 98　No. Suppl.Update　p. 36-38　2022/07

Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study.

Shogo Dofuku, Kyuto Sonehara, Satoru Miyawaki, Saori Sakaue, Hideaki Imai, Masahiro Shimizu, Hiroki Hongo, Yuki Shinya, Kenta Ohara, Yu Teranishi, Atsushi Okano, Hideaki Ono, Hirofumi Nakatomi, Akira Teraoka, Kenichi Yamamoto, Yuichi Maeda, Takuro Nii, Toshihiro Kishikawa, Ken Suzuki, Jun Hirata, Meiko Takahashi, Koichi Matsuda, Atsushi Kumanogoh, Fumihiko Matsuda, Yukinori Okada, Nobuhito Saito

Translational stroke research　2022/06/14　Research paper (scientific journal)

小児骨形成不全症におけるビスホスホネート治療および体重は血清スクレロスチン値に影響する

藤原 誠, 北岡 太一, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 中山 尋文, 大幡 泰久, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 98　No. 1　p. 324-324　2022/04

当科における軟骨無形成症患者の成人身長に関する検討

中山 尋文, 窪田 拓生, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 藤原 誠, 大幡 泰久, 北岡 太一, 大薗 恵一

日本内分泌学会雑誌　Vol. 98　No. 1　p. 324-324　2022/04

当科における軟骨無形成症患者の成人身長に関する検討

中山 尋文, 窪田 拓生, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 藤原 誠, 大幡 泰久, 北岡 太一, 大薗 恵一

日本内分泌学会雑誌　Vol. 98　No. 1　p. 324-324　2022/04

小児骨形成不全症におけるビスホスホネート治療および体重は血清スクレロスチン値に影響する

藤原 誠, 北岡 太一, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 中山 尋文, 大幡 泰久, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 98　No. 1　p. 324-324　2022/04

GsαのPTH1R隣接部位に異常アミノ酸が付加されるGNAS遺伝子新規病的バリアントは偽性副甲状腺機能低下症をもたらす AlphaFold2を用いた非血縁2家系の検討

大幡 泰久, 柿本 令奈, 関 祐子, 石原 康貴, 中野 由佳子, 山本 賢一, 武鑓 真司, 藤原 誠, 北岡 太一, 窪田 拓生, 高桑 聖, 大薗 恵一

日本内分泌学会雑誌　Vol. 98　No. 1　p. 281-281　2022/04

線維芽細胞増殖因子23(FGF23)関連低リン血症に対しプロスマブを投与したMcCune-Albright症候群の1例

相良 壮馬, 窪田 拓生, 石見 壮史, 山田 知絵子, 中野 由佳子, 武鑓 真司, 山本 賢一, 中山 尋文, 藤原 誠, 大幡 泰久, 北岡 太一, 大薗 恵一

日本小児科学会雑誌　Vol. 126　No. 2　p. 371-371　2022/02

線維芽細胞増殖因子23(FGF23)関連低リン血症に対しプロスマブを投与したMcCune-Albright症候群の1例

相良 壮馬, 窪田 拓生, 石見 壮史, 山田 知絵子, 中野 由佳子, 武鑓 真司, 山本 賢一, 中山 尋文, 藤原 誠, 大幡 泰久, 北岡 太一, 大薗 恵一

日本小児科学会雑誌　Vol. 126　No. 2　p. 371-371　2022/02

Whole gut virome analysis of 476 Japanese revealed a link between phage and autoimmune disease

Yoshihiko Tomofuji, Toshihiro Kishikawa, Yuichi Maeda, Kotaro Ogawa, Takuro Nii, Tatsusada Okuno, Eri Oguro-Igashira, Makoto Kinoshita, Kenichi Yamamoto, Kyuto Sonehara, Mayu Yagita, Akiko Hosokawa, Daisuke Motooka, Yuki Matsumoto, Hidetoshi Matsuoka, Maiko Yoshimura, Shiro Ohshima, Shota Nakamura, Hidenori Inohara, Hideki Mochizuki, Kiyoshi Takeda, Atsushi Kumanogoh, Yukinori Okada

Annals of the Rheumatic Diseases　Vol. 81　No. 2　p. 278-288　2022/02　Research paper (scientific journal)

A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta.

Chieko Yamada, Takuo Kubota, Takeshi Ishimi, Shinji Takeyari, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Keiichi Ozono

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology　Vol. 31　No. 3　p. 205-208　2022　Research paper (scientific journal)

Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population.

Kyuto Sonehara, Saori Sakaue, Yuichi Maeda, Jun Hirata, Toshihiro Kishikawa, Kenichi Yamamoto, Hidetoshi Matsuoka, Maiko Yoshimura, Takuro Nii, Shiro Ohshima, Atsushi Kumanogoh, Yukinori Okada

Human molecular genetics　Vol. 31　No. 11　p. 1806-1820　2021/12/17　Research paper (scientific journal)

Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.

Yang Luo, Masahiro Kanai, Wanson Choi, Xinyi Li, Saori Sakaue, Kenichi Yamamoto, Kotaro Ogawa, Maria Gutierrez-Arcelus, Peter K Gregersen, Philip E Stuart, James T Elder, Lukas Forer, Sebastian Schönherr, Christian Fuchsberger, Albert V Smith, Jacques Fellay, Mary Carrington, David W Haas, Xiuqing Guo, Nicholette D Palmer, Yii-Der Ida Chen, Jerome I Rotter, Kent D Taylor, Stephen S Rich, Adolfo Correa, James G Wilson, Sekar Kathiresan, Michael H Cho, Andres Metspalu, Tonu Esko, Yukinori Okada, Buhm Han, Paul J McLaren, Soumya Raychaudhuri

Nature genetics　Vol. 53　No. 12　p. 1722-1722　2021/12

Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

Yasuki Ishihara, Yasuhisa Ohata, Shinji Takeyari, Taichi Kitaoka, Makoto Fujiwara, Yukako Nakano, Kenichi Yamamoto, Chieko Yamada, Katsusuke Yamamoto, Toshimi Michigami, Hiroyo Mabe, Takeshi Yamaguchi, Katsuyuki Matsui, Izumi Tamada, Noriyuki Namba, Akiko Yamamoto, Junya Etoh, Azusa Kawaguchi, Rieko Kosugi, Keiichi Ozono, Takuo Kubota

Bone　Vol. 153　p. 116135-116135　2021/12　Research paper (scientific journal)

測定法変更に伴う血清アルカリホスファターゼ値の評価について

北岡 太一, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 中山 尋文, 藤原 誠, 大幡 泰久, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 97　No. 2　p. 522-522　2021/10

A cross-population atlas of genetic associations for 220 human phenotypes.

Saori Sakaue, Masahiro Kanai, Yosuke Tanigawa, Juha Karjalainen, Mitja Kurki, Seizo Koshiba, Akira Narita, Takahiro Konuma, Kenichi Yamamoto, Masato Akiyama, Kazuyoshi Ishigaki, Akari Suzuki, Ken Suzuki, Wataru Obara, Ken Yamaji, Kazuhisa Takahashi, Satoshi Asai, Yasuo Takahashi, Takao Suzuki, Nobuaki Shinozaki, Hiroki Yamaguchi, Shiro Minami, Shigeo Murayama, Kozo Yoshimori, Satoshi Nagayama, Daisuke Obata, Masahiko Higashiyama, Akihide Masumoto, Yukihiro Koretsune, Kaoru Ito, Chikashi Terao, Toshimasa Yamauchi, Issei Komuro, Takashi Kadowaki, Gen Tamiya, Masayuki Yamamoto, Yusuke Nakamura, Michiaki Kubo, Yoshinori Murakami, Kazuhiko Yamamoto, Yoichiro Kamatani, Aarno Palotie, Manuel A Rivas, Mark J Daly, Koichi Matsuda, Yukinori Okada

Nature genetics　Vol. 53　No. 10　p. 1415-1424　2021/10　Research paper (scientific journal)

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.

Yang Luo, Masahiro Kanai, Wanson Choi, Xinyi Li, Saori Sakaue, Kenichi Yamamoto, Kotaro Ogawa, Maria Gutierrez-Arcelus, Peter K Gregersen, Philip E Stuart, James T Elder, Lukas Forer, Sebastian Schönherr, Christian Fuchsberger, Albert V Smith, Jacques Fellay, Mary Carrington, David W Haas, Xiuqing Guo, Nicholette D Palmer, Yii-Der Ida Chen, Jerome I Rotter, Kent D Taylor, Stephen S Rich, Adolfo Correa, James G Wilson, Sekar Kathiresan, Michael H Cho, Andres Metspalu, Tonu Esko, Yukinori Okada, Buhm Han, Paul J McLaren, Soumya Raychaudhuri

Nature genetics　Vol. 53　No. 10　p. 1504-1516　2021/10　Research paper (scientific journal)

Metagenome-wide association study revealed disease-specific landscape of the gut microbiome of systemic lupus erythematosus in Japanese.

Yoshihiko Tomofuji, Yuichi Maeda, Eri Oguro-Igashira, Toshihiro Kishikawa, Kenichi Yamamoto, Kyuto Sonehara, Daisuke Motooka, Yuki Matsumoto, Hidetoshi Matsuoka, Maiko Yoshimura, Mayu Yagita, Takuro Nii, Shiro Ohshima, Shota Nakamura, Hidenori Inohara, Kiyoshi Takeda, Atsushi Kumanogoh, Yukinori Okada

Annals of the rheumatic diseases　Vol. 80　No. 12　p. 1575-1583　2021/08/23　Research paper (scientific journal)

Japan COVID-19 Task Force: a nation-wide consortium to elucidate host genetics of COVID-19 pandemic in Japan

Ho Namkoong, Ryuya Edahiro, Koichi Fukunaga, Yuya Shirai, Kyuto Sonehara, Hiromu Tanaka, Ho Lee, Takanori Hasegawa, Masahiro Kanai, Tatsuhiko Naito, Kenichi Yamamoto, Ryunosuke Saiki, Takayoshi Hyugaji, Eigo Shimizu, Kotoe Katayama, Kazuhisa Takahashi, Norihiro Harada, Toshio Naito, Makoto Hiki, Yasushi Matsushita, Haruhi Takagi, Ryousuke Aoki, Ai Nakamura, Sonoko Harada, Hitoshi Sasano, Hiroki Kabata, Katsunori Masaki, Hirofumi Kamata, Shinnosuke Ikemura, Shotaro Chubachi, Satoshi Okamori, Hideki Terai, Atsuho Morita, Takanori Asakura, Junichi Sasaki, Hiroshi Morisaki, Yoshifumi Uwamino, Kosaku Nanki, Yohei Mikami, Sho Uchida, Shunsuke Uno, Rino Ishihara, Yuta Matsubara, Tomoyasu Nishimura, Takanori Ogawa, Takashi Ishiguro, Taisuke Isono, Shun Shibata, Yuma Matsui, Chiaki Hosoda, Kenji Takano, Takashi Nishida, Yoichi Kobayashi, Yotaro Takaku, Noboru Takayanagi, Soichiro Ueda, Ai Tada, Masayoshi Miyawaki, Masaomi Yamamoto, Eriko Yoshida, Reina Hayashi, Tomoki Nagasaka, Sawako Arai, Yutaro Kaneko, Kana Sasaki, Etsuko Tagaya, Masatoshi Kawana, Ken Arimura, Kunihiko Takahashi, Tatsuhiko Anzai, Satoshi Ito, Akifumi Endo, Yuji Uchimura, Yasunari Miyazaki, Takayuki Honda, Tomoya Tateishi, Shuji Tohda, Naoya Ichimura, Kazunari Sonobe, Chihiro Sassa, Jun Nakajima, Yasushi Nakano, Yukiko Nakajima, Ryusuke Anan, Ryosuke Arai, Yuko Kurihara, Yuko Harada, Kazumi Nishio, Tetsuya Ueda, Masanori Azuma, Ryuichi Saito, Toshikatsu Sado, Yoshimune Miyazaki, Ryuichi Sato, Yuki Haruta, Tadao Nagasaki, Yoshinori Yasui, Yoshinori Hasegawa, Yoshikazu Mutoh, Tomonori Sato, Reoto Takei, Satoshi Hagimoto, Yoichiro Noguchi, Yasuhiko Yamano, Hajime Sasano, Sho Ota, Yasushi Nakamori, Kazuhisa Yoshiya, Fukuki Saito, Tomoyuki Yoshihara, Daiki Wada, Hiromu Iwamura, Syuji Kanayama, Shuhei Maruyama, Takashi Yoshiyama, Ken Ohta, Hiroyuki Kokuto, Hideo Ogata, Yoshiaki Tanaka, Kenichi Arakawa, Masafumi Shimoda, Takeshi Osawa, Hiroki Tateno, Isano Hase, Shuichi Yoshida, Shoji Suzuki, Miki Kawada, Hirohisa Horinouchi, Fumitake Saito, Keiko Mitamura, Masao Hagihara, Junichi Ochi, Tomoyuki Uchida, Rie Baba, Daisuke Arai, Takayuki Ogura, Hidenori Takahashi, Shigehiro Hagiwara, Genta Nagao, Shunichiro Konishi, Ichiro Nakachi, Koji Murakami, Mitsuhiro Yamada, Hisatoshi Sugiura, Hirohito Sano, Shuichiro Matsumoto, Nozomu Kimura, Yoshinao Ono, Hiroaki Baba, Yusuke Suzuki, Sohei Nakayama, Keita Masuzawa, Shinichi Namba, Ken Suzuki, Nobuyuki Hizawa, Takayuki Shiroyama, Satoru Miyawaki, Yusuke Kawamura, Akiyoshi Nakayama, Hirotaka Matsuo, Yuichi Maeda, Takuro Nii, Yoshimi Noda, Takayuki Niitsu, Yuichi Adachi, Takatoshi Enomoto, Saori Amiya, Reina Hara, Toshihiro Kishikawa, Shuhei Yamada, Shuhei Kawabata, Noriyuki Kijima, Masatoshi Takagaki, Noa Sasa, Yuya Ueno, Motoyuki Suzuki, Norihiko Takemoto, Hirotaka Eguchi, Takahito Fukusumi, Takao Imai, Munehisa Fukushima, Haruhiko Kishima, Hidenori Inohara, Kazunori Tomono, Kazuto Kato, Meiko Takahashi, Fumihiko Matsuda, Haruhiko Hirata, Yoshito Takeda, Hidefumi Koh, Tadashi Manabe, Yohei Funatsu, Fumimaro Ito, Takahiro Fukui, Keisuke Shinozuka, Sumiko Kohashi, Masatoshi Miyazaki, Tomohisa Shoko, Mitsuaki Kojima, Tomohiro Adachi, Motonao Ishikawa, Kenichiro Takahashi, Takashi Inoue, Toshiyuki Hirano, Keigo Kobayashi, Hatsuyo Takaoka, Kazuyoshi Watanabe, Naoki Miyazawa, Yasuhiro Kimura, Reiko Sado, Hideyasu Sugimoto, Akane Kamiya, Naota Kuwahara, Akiko Fujiwara, Tomohiro Matsunaga, Yoko Sato, Takenori Okada, Yoshihiro Hirai, Hidetoshi Kawashima, Atsuya Narita, Kazuki Niwa, Yoshiyuki Sekikawa, Koichi Nishi, Masaru Nishitsuji, Mayuko Tani, Junya Suzuki, Hiroki Nakatsumi, Takashi Ogura, Hideya Kitamura, Eri Hagiwara, Kota Murohashi, Hiroko Okabayashi, Takao Mochimaru, Shigenari Nukaga, Ryosuke Satomi, Yoshitaka Oyamada, Nobuaki Mori, Tomoya Baba, Yasutaka Fukui, Mitsuru Odate, Shuko Mashimo, Yasushi Makino, Kazuma Yagi, Mizuha Hashiguchi, Junko Kagyo, Tetsuya Shiomi, Satoshi Fuke, Hiroshi Saito, Tomoya Tsuchida, Shigeki Fujitani, Mumon Takita, Daiki Morikawa, Toru Yoshida, Takehiro Izumo, Minoru Inomata, Naoyuki Kuse, Nobuyasu Awano, Mari Tone, Akihiro Ito, Yoshihiko Nakamura, Kota Hoshino, Junichi Maruyama, Hiroyasu Ishikura, Tohru Takata, Toshio Odani, Masaru Amishima, Takeshi Hattori, Yasuo Shichinohe, Takashi Kagaya, Toshiyuki Kita, Kazuhide Ohta, Satoru Sakagami, Kiyoshi Koshida, Kentaro Hayashi, Tetsuo Shimizu, Yutaka Kozu, Hisato Hiranuma, Yasuhiro Gon, Namiki Izumi, Kaoru Nagata, Ken Ueda, Reiko Taki, Satoko Hanada, Kodai Kawamura, Kazuya Ichikado, Kenta Nishiyama, Hiroyuki Muranaka, Kazunori Nakamura, Naozumi Hashimoto, Keiko Wakahara, Sakamoto Koji, Norihito Omote, Akira Ando, Nobuhiro Kodama, Yasunari Kaneyama, Shunsuke Maeda, Takashige Kuraki, Takemasa Matsumoto, Koutaro Yokote, Taka-Aki Nakada, Ryuzo Abe, Taku Oshima, Tadanaga Shimada, Masahiro Harada, Takeshi Takahashi, Hiroshi Ono, Toshihiro Sakurai, Takayuki Shibusawa, Yoshifumi Kimizuka, Akihiko Kawana, Tomoya Sano, Chie Watanabe, Ryohei Suematsu, Hisako Sageshima, Ayumi Yoshifuji, Kazuto Ito, Saeko Takahashi, Kota Ishioka, Morio Nakamura, Makoto Masuda, Aya Wakabayashi, Hiroki Watanabe, Suguru Ueda, Masanori Nishikawa, Yusuke Chihara, Mayumi Takeuchi, Keisuke Onoi, Jun Shinozuka, Atsushi Sueyoshi, Yoji Nagasaki, Masaki Okamoto, Sayoko Ishihara, Masatoshi Shimo, Yoshihisa Tokunaga, Yu Kusaka, Takehiko Ohba, Susumu Isogai, Aki Ogawa, Takuya Inoue, Satoru Fukuyama, Yoshihiro Eriguchi, Akiko Yonekawa, Keiko Kan-o, Koichiro Matsumoto, Kensuke Kanaoka, Shoichi Ihara, Kiyoshi Komuta, Yoshiaki Inoue, Shigeru Chiba, Kunihiro Yamagata, Yuji Hiramatsu, Hirayasu Kai, Koichiro Asano, Tsuyoshi Oguma, Yoko Ito, Satoru Hashimoto, Masaki Yamasaki, Yu Kasamatsu, Yuko Komase, Naoya Hida, Takahiro Tsuburai, Baku Oyama, Minoru Takada, Hidenori Kanda, Yuichiro Kitagawa, Tetsuya Fukuta, Takahito Miyake, Shozo Yoshida, Shinji Ogura, Shinji Abe, Yuta Kono, Yuki Togashi, Hiroyuki Takoi, Ryota Kikuchi, Shinichi Ogawa, Tomouki Ogata, Shoichiro Ishihara, Arihiko Kanehiro, Shinji Ozaki, Yasuko Fuchimo, Sae Wada, Nobukazu Fujimoto, Kei Nishiyama, Mariko Terashima, Satoru Beppu, Kosuke Yoshida, Osamu Narumoto, Hideaki Nagai, Nobuharu Ooshima, Mitsuru Motegi, Akira Umeda, Kazuya Miyagawa, Hisato Shimada, Mayu Endo, Yoshiyuki Ohira, Masafumi Watanabe, Sumito Inoue, Akira Igarashi, Masamichi Sato, Hironori Sagara, Akihiko Tanaka, Shin Ohta, Tomoyuki Kimura, Yoko Shibata, Yoshinori Tanino, Takefumi Nikaido, Hiroyuki Minemura, Yuki Sato, Yuichiro Yamada, Takuya Hashino, Masato Shinoki, Hajime Iwagoe, Hiroshi Takahashi, Kazuhiko Fujii, Hiroto Kishi, Masayuki Kanai, Tomonori Imamura, Tatsuya Yamashita, Masakiyo Yatomi, Toshitaka Maeno, Shinichi Hayashi, Mai Takahashi, Mizuki Kuramochi, Isamu Kamimaki, Yoshiteru Tominaga, Tomoo Ishii, Mitsuyoshi Utsugi, Akihiro Ono, Toru Tanaka, Takeru Kashiwada, Kazue Fujita, Yoshinobu Saito, Masahiro Seike, Yosuke Omae, Yasuhito Nannya, Takafumi Ueno, Tomomi Takano, Kazuhiko Katayama, Masumi Ai, Atsushi Kumanogoh, Toshiro Sato, Naoki Hasegawa, Katsushi Tokunaga, Makoto Ishii, Ryuji Koike, Yuko Kitagawa, Akinori Kimura, Seiya Imoto, Satoru Miyano, Seishi Ogawa, Takanori Kanai, Yukinori Okada

2021/05/18　Research paper (scientific journal)

当科におけるAlagille症候群12症例の腎合併症に関する検討

三好 宏昌, 藤原 誠, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中山 尋文, 大幡 泰久, 北岡 太一, 窪田 拓生, 別所 一彦, 大薗 恵一

日本小児腎臓病学会雑誌　Vol. 34　No. 1Suppl.　p. 125-125　2021/05

当科におけるAlagille症候群12症例の腎合併症に関する検討

三好 宏昌, 藤原 誠, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中山 尋文, 大幡 泰久, 北岡 太一, 窪田 拓生, 別所 一彦, 大薗 恵一

日本小児腎臓病学会雑誌　Vol. 34　No. 1Suppl.　p. 125-125　2021/05

Large-scale plasma-metabolome analysis identifies potential biomarkers of psoriasis and its clinical subtypes.

Toshihiro Kishikawa, Noriko Arase, Shigeyoshi Tsuji, Yuichi Maeda, Takuro Nii, Jun Hirata, Ken Suzuki, Kenichi Yamamoto, Tatsuo Masuda, Kotaro Ogawa, Shiro Ohshima, Hidenori Inohara, Atsushi Kumanogoh, Manabu Fujimoto, Yukinori Okada

Journal of dermatological science　Vol. 102　No. 2　p. 78-84　2021/05　Research paper (scientific journal)

長期管理中のStAR異常による46,XX先天性リポイド副腎過形成症の一例

大幡 泰久, 山本 賢一, 中野 由佳子, 石見 壮史, 武鑓 真司, 山田 知絵子, 藤原 誠, 北岡 太一, 三善 陽子, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 96　No. 4　p. 1042-1042　2021/04

Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis.

Saori Sakaue, Etsuro Yamaguchi, Yoshikazu Inoue, Meiko Takahashi, Jun Hirata, Ken Suzuki, Satoru Ito, Toru Arai, Masaki Hirose, Yoshinori Tanino, Takefumi Nikaido, Toshio Ichiwata, Shinya Ohkouchi, Taizou Hirano, Toshinori Takada, Satoru Miyawaki, Shogo Dofuku, Yuichi Maeda, Takuro Nii, Toshihiro Kishikawa, Kotaro Ogawa, Tatsuo Masuda, Kenichi Yamamoto, Kyuto Sonehara, Ryushi Tazawa, Konosuke Morimoto, Masahiro Takaki, Satoshi Konno, Masaru Suzuki, Keisuke Tomii, Atsushi Nakagawa, Tomohiro Handa, Kiminobu Tanizawa, Haruyuki Ishii, Manabu Ishida, Toshiyuki Kato, Naoya Takeda, Koshi Yokomura, Takashi Matsui, Masaki Watanabe, Hiromasa Inoue, Kazuyoshi Imaizumi, Yasuhiro Goto, Hiroshi Kida, Tomoyuki Fujisawa, Takafumi Suda, Takashi Yamada, Yasuomi Satake, Hidenori Ibata, Nobuyuki Hizawa, Hideki Mochizuki, Atsushi Kumanogoh, Fumihiko Matsuda, Koh Nakata, Tomomitsu Hirota, Mayumi Tamari, Yukinori Okada

Nature communications　Vol. 12　No. 1　p. 1032-1032　2021/02/15　Research paper (scientific journal)

新生児・乳児期に胆汁うっ滞を呈し複合下垂体機能低下症が判明した中隔視神経形成異常症の一例

石見 壮史, 山田 知絵子, 武鑓 真司, 中野 由佳子, 山本 賢一, 中山 尋文, 藤原 誠, 大幡 康久, 北岡 太一, 窪田 拓生, 大薗 恵一

日本小児科学会雑誌　Vol. 125　No. 2　p. 220-220　2021/02

Increased levels of plasma nucleotides in patients with rheumatoid arthritis.

Toshihiro Kishikawa, Yuichi Maeda, Takuro Nii, Noriko Arase, Jun Hirata, Ken Suzuki, Kenichi Yamamoto, Tatsuo Masuda, Kotaro Ogawa, Shigeyoshi Tsuji, Masato Matsushita, Hidetoshi Matsuoka, Maiko Yoshimura, Shinichiro Tsunoda, Shiro Ohshima, Masashi Narazaki, Atsushi Ogata, Yukihiko Saeki, Hidenori Inohara, Atsushi Kumanogoh, Kiyoshi Takeda, Yukinori Okada

International immunology　Vol. 33　No. 2　p. 119-124　2021/01/28　Research paper (scientific journal)

血尿、蛋白尿の改善に乏しく診断に時間を要したAlport症候群の4例

石見 壮史, 北岡 太一, 山田 知絵子, 宮田 京, 中山 尋文, 武鑓 真司, 山本 賢一, 中野 由佳子, 藤原 誠, 大幡 泰久, 窪田 拓生, 山本 威久, 長野 智那, 野津 寛大, 飯島 一誠, 大薗 恵一

日本小児腎臓病学会雑誌　Vol. 33　No. 1Suppl.　p. 145-145　2020/12

A global atlas of genetic associations of 220 deep phenotypes

Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A, Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Finn Gen, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y

Nature Genetics　2020/10/27　Research paper (scientific journal)

LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury

Shuhei Nakamura, Saki Shigeyama, Satoshi Minami, Takayuki Shima, Shiori Akayama, Tomoki Matsuda, Alessandra Esposito, Gennaro Napolitano, Akiko Kuma, Tomoko Namba-Hamano, Jun Nakamura, Kenichi Yamamoto, Miwa Sasai, Ayaka Tokumura, Mika Miyamoto, Yukako Oe, Toshiharu Fujita, Seigo Terawaki, Atsushi Takahashi, Maho Hamasaki, Masahiro Yamamoto, Yukinori Okada, Masaaki Komatsu, Takeharu Nagai, Yoshitsugu Takabatake, Haoxing Xu, Yoshitaka Isaka, Andrea Ballabio, Tamotsu Yoshimori

Nature Cell Biology　Vol. 22　No. 10　p. 1252-1263　2020/10　Research paper (scientific journal)

小児骨形成不全症における血清スクレロスチン値の関連因子の解析

藤原 誠, 北岡 太一, 石見 壮史, 山田 知絵子, 武鑓 真司, 山本 賢一, 中野 由佳子, 中山 尋文, 大幡 泰久, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 96　No. 2　p. 550-550　2020/10

Gsαタンパクのβ6 strand/α5 helix部位に異常なアミノ酸配列が付加されるGNAS遺伝子新規変異は偽性副甲状腺機能低下症/偽性偽性副甲状腺機能低下症の原因となりうる 非血縁2家系症例の検討

大幡 泰久, 藤原 誠, 石原 康貴, 窪田 拓生, 北岡 太一, 中山 尋文, 武鑓 真司, 山本 賢一, 中野 由佳子, 大薗 恵一

日本骨代謝学会学術集会プログラム抄録集　Vol. 38回　p. 141-141　2020/10

パミドロン酸からゾレドロン酸に投与変更した小児骨疾患の検討

中山 尋文, 山田 知絵子, 宮田 京, 中野 由佳子, 山本 賢一, 武鑓 真司, 大幡 泰久, 藤原 誠, 北岡 太一, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 96　No. 1　p. 334-334　2020/08

当科におけるLowe症候群症例の腎機能と成人診療科への移行

中山 尋文, 藤原 誠, 窪田 拓生, 山田 知絵子, 宮田 京, 武鑓 真司, 中野 由佳子, 山本 賢一, 大幡 泰久, 北岡 太一, 大薗 恵一, 下村 明弘, 南 聡, 猪阪 善隆

日本小児腎不全学会雑誌　Vol. 40　p. 129-134　2020/07

Correction to: Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta (Osteoporosis International, (2019), 30, 11, (2333-2342), 10.1007/s00198-019-05076-6)

Y. Ohata, S. Takeyari, Y. Nakano, T. Kitaoka, H. Nakayama, V. Bizaoui, K. Yamamoto, K. Miyata, K. Yamamoto, M. Fujiwara, T. Kubota, T. Michigami, K. Yamamoto, T. Yamamoto, N. Namba, K. Ebina, H. Yoshikawa, K. Ozono

Osteoporosis International　Vol. 31　No. 6　2020/06/01　Research paper (scientific journal)

神経線維腫症1型に合併した腎血管性高血圧に対し狭窄部拡張術が有効であった症例

大井 遼, 藤原 誠, 山田 知絵子, 宮田 京, 中野 由佳子, 山本 賢一, 武鑓 真司, 中山 尋文, 大幡 泰久, 北岡 太一, 窪田 拓生, 大薗 恵一

日本小児科学会雑誌　Vol. 124　No. 2　p. 254-254　2020/02

神経線維腫症1型に合併した腎血管性高血圧に対し狭窄部拡張術が有効であった症例

大井 遼, 藤原 誠, 山田 知絵子, 宮田 京, 中野 由佳子, 山本 賢一, 武鑓 真司, 中山 尋文, 大幡 泰久, 北岡 太一, 窪田 拓生, 大薗 恵一

日本小児科学会雑誌　Vol. 124　No. 2　p. 254-254　2020/02

骨形成不全症患者における海綿骨スコア(TBS)についての検討

北岡 太一, 中野 由佳子, 大幡 泰久, 中山 尋文, 武鑓 真司, 山本 賢一, 藤原 誠, 窪田 拓生, 大薗 恵一

日本内分泌学会雑誌　Vol. 95　No. 3　p. 1137-1137　2020/01

A Metagenome-Wide Association Study of Gut Microbiome in Patients With Multiple Sclerosis Revealed Novel Disease Pathology.

Toshihiro Kishikawa, Kotaro Ogawa, Daisuke Motooka, Akiko Hosokawa, Makoto Kinoshita, Ken Suzuki, Kenichi Yamamoto, Tatsuo Masuda, Yuki Matsumoto, Takuro Nii, Yuichi Maeda, Shota Nakamura, Hidenori Inohara, Hideki Mochizuki, Tatsusada Okuno, Yukinori Okada

Frontiers in cellular and infection microbiology　Vol. 10　p. 585973-585973　2020　Research paper (scientific journal)

Suppression of autophagic activity by Rubicon is a signature of aging

Shuhei Nakamura, Masaki Oba, Mari Suzuki, Atsushi Takahashi, Tadashi Yamamuro, Mari Fujiwara, Kensuke Ikenaka, Satoshi Minami, Namine Tabata, Kenichi Yamamoto, Sayaka Kubo, Ayaka Tokumura, Kanako Akamatsu, Yumi Miyazaki, Tsuyoshi Kawabata, Maho Hamasaki, Koji Fukui, Kazunori Sango, Yoshihisa Watanabe, Yoshitsugu Takabatake, Tomoya S. Kitajima, Yukinori Okada, Hideki Mochizuki, Yoshitaka Isaka, Adam Antebi, Tamotsu Yoshimori

Nature Communications　Vol. 10　No. 1　2019/12　Research paper (scientific journal)

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

Y. Ohata, S. Takeyari, Y. Nakano, T. Kitaoka, H. Nakayama, V. Bizaoui, K. Yamamoto, K. Miyata, K. Yamamoto, M. Fujiwara, T. Kubota, T. Michigami, K. Yamamoto, T. Yamamoto, N. Namba, K. Ebina, H. Yoshikawa, K. Ozono

Osteoporosis International　Vol. 30　No. 11　p. 2333-2342　2019/11　Research paper (scientific journal)

酵素補充療法を導入した低ホスファターゼ症成人2症例の検討

中野 由佳子, 武鑓 真司, 北岡 太一, 大幡 泰久, 山本 賢一, 宮田 京, 中山 尋文, 藤原 誠, 窪田 拓生, 三善 陽子, 大薗 恵一

日本内分泌学会雑誌　Vol. 95　No. 2　p. 703-703　2019/10

日本人XLH患者37名のPHEX遺伝子解析結果と表現型相関の検討

大幡 泰久, 石原 康貴, 窪田 拓生, 武鑓 真司, 北岡 太一, 中山 尋文, 中野 由佳子, 山本 賢一, 藤原 誠, 道上 敏美, 難波 範行, 大薗 恵一

日本骨代謝学会学術集会プログラム抄録集　Vol. 37回　p. 213-213　2019/09

Genotype-phenotype characteristics in four families of type II collagenopathy in our hospital

Kenichi Yamamoto, Takuo Kubota, Shinji Takeyari, Yukako Nakano, Hirofumi Nakayama, Makoto Fujiwara, Yasuhisa Ohata, Taichi Kitaoka, Yoko Miyoshi, Keiichi Ozono

HORMONE RESEARCH IN PAEDIATRICS　Vol. 91　p. 210-210　2019/09

歯限局型低ホスファターゼ症の生化学的・遺伝学的検討

窪田 拓生, 大幡 泰久, 石原 康貴, 藤原 誠, 武鑓 真司, 山本 賢一, 中野 由佳子, 中山 尋文, 北岡 太一, 大薗 恵一

日本骨代謝学会学術集会プログラム抄録集　Vol. 37回　p. 215-215　2019/09

Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population.

Jun Hirata, Kazuyoshi Hosomichi, Saori Sakaue, Masahiro Kanai, Hirofumi Nakaoka, Kazuyoshi Ishigaki, Ken Suzuki, Masato Akiyama, Toshihiro Kishikawa, Kotaro Ogawa, Tatsuo Masuda, Kenichi Yamamoto, Makoto Hirata, Koichi Matsuda, Yukihide Momozawa, Ituro Inoue, Michiaki Kubo, Yoichiro Kamatani, Yukinori Okada

Nature genetics　Vol. 51　No. 3　p. 470-480　2019/03　Research paper (scientific journal)

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

Mohammad Saiful Islam, Noriyuki Namba, Yasuhisa Ohata, Makoto Fujiwara, Chiho Nakano, Shinji Takeyari, Kei Miyata, Yukako Nakano, Kenichi Yamamoto, Hirofumi Nakayama, Taichi Kitaoka, Takuo Kubota, Keiichi Ozono

Endocrine journal　Vol. 66　No. 1　p. 19-29　2019/01/28　Research paper (scientific journal)

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report.

Shinji Takeyari, Satoshi Takakuwa, Kei Miyata, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Takuo Kubota, Noriyuki Namba, Norio Sakai, Keiichi Ozono

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology　Vol. 28　No. 1　p. 1-7　2019　Research paper (scientific journal)

Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity.

Saori Sakaue, Jun Hirata, Yuichi Maeda, Eiryo Kawakami, Takuro Nii, Toshihiro Kishikawa, Kazuyoshi Ishigaki, Chikashi Terao, Ken Suzuki, Masato Akiyama, Naomasa Suita, Tatsuo Masuda, Kotaro Ogawa, Kenichi Yamamoto, Yukihiko Saeki, Masato Matsushita, Maiko Yoshimura, Hidetoshi Matsuoka, Katsunori Ikari, Atsuo Taniguchi, Hisashi Yamanaka, Hideya Kawaji, Timo Lassmann, Masayoshi Itoh, Hiroyuki Yoshitomi, Hiromu Ito, Koichiro Ohmura, Alistair R R Forrest, Yoshihide Hayashizaki, Piero Carninci, Atsushi Kumanogoh, Yoichiro Kamatani, Michiel de Hoon, Kazuhiko Yamamoto, Yukinori Okada

Nucleic acids research　Vol. 46　No. 22　p. 11898-11909　2018/12/14　Research paper (scientific journal)

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.

Shinji Takeyari, Takuo Kubota, Kei Miyata, Kenichi Yamamoto, Hirofumi Nakayama, Keiko Yamamoto, Yasuhisa Ohata, Taichi Kitaoka, Kumiko Yanagi, Tadashi Kaname, Keiichi Ozono

American journal of medical genetics. Part A　Vol. 176　No. 12　p. 2882-2886　2018/12　Research paper (scientific journal)

Seventeen-Year Observation in a Japanese Female Case of Tatton-Brown-Rahman Syndrome: An Overgrowth Syndrome with Intellectual Disability

Miyoshi Yoko, Yamamoto Keiko, Nakano Yukako, Yamamoto Kenichi, Kubota Takuo, Ozono Keiichi

HORMONE RESEARCH IN PAEDIATRICS　Vol. 90　2018

当院における膜性増殖性糸球体腎炎5例の検討

宮田 京, 山本 賢一, 中山 尋文, 藤原 誠, 北岡 太一, 高桑 聖, 窪田 拓生, 大薗 恵一

日本小児腎臓病学会雑誌　Vol. 30　No. 1Suppl.　p. 115-115　2017/05

X連鎖性低リン血症性くる病患者における血清FGF23濃度と関連するパラメータの検討

窪田 拓生, 山本 景子, 宮田 京, 武鑓 真司, 山本 賢一, 中山 尋文, 藤原 誠, 北岡 太一, 高桑 聖, 大薗 恵一

日本内分泌学会雑誌　Vol. 93　No. 1　p. 295-295　2017/04

長期寛解に至らず難渋している移植後再発の巣状分節性糸球体硬化症の一例

中山 尋文, 北岡 太一, 角田 洋一, 岡 樹史, 山本 賢一, 藤原 誠, 高桑 聖, 窪田 拓生, 水井 理之, 今村 亮一, 猪坂 善隆, 大薗 恵一

日本小児腎臓病学会雑誌　Vol. 29　No. 1Suppl.　p. 153-153　2016/06

新規遺伝子変異を認めた褐色細胞腫・傍神経節腫症候群の男児の一例

山本 賢一, 高桑 聖, 中山 尋文, 山本 景子, 藤原 誠, 北岡 太一, 窪田 拓生, 大薗 恵一, 児玉 匡, 奥山 宏臣, 馬越 洋宜, 臼井 健

日本内分泌学会雑誌　Vol. 92　No. 1　p. 227-227　2016/04