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Naoki Harada
Researcher at Mitsubishi
Publications - 110
Citations - 4466
Naoki Harada is an academic researcher from Mitsubishi. The author has contributed to research in topics: Gene & Trisomy. The author has an hindex of 33, co-authored 108 publications receiving 4249 citations. Previous affiliations of Naoki Harada include Nagasaki University.
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Journal ArticleDOI
Heterozygous TGFBR2 mutations in Marfan syndrome
Takeshi Mizuguchi,Gwenaëlle Collod-Béroud,Takushi Akiyama,Marianne Abifadel,Naoki Harada,Takayuki Morisaki,Delphine Allard,Mathilde Varret,Mireille Claustres,Hiroko Morisaki,Makoto Ihara,Akira Kinoshita,Koh-ichiro Yoshiura,Claudine Junien,Tadashi Kajii,Guillaume Jondeau,Tohru Ohta,Tohru Ohta,Tatsuya Kishino,Yoichi Furukawa,Yusuke Nakamura,Norio Niikawa,Catherine Boileau,Naomichi Matsumoto,Naomichi Matsumoto +24 more
TL;DR: Results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders.
Journal ArticleDOI
Haploinsufficiency of NSD1 causes Sotos syndrome
Naohiro Kurotaki,Kiyoshi Imaizumi,Naoki Harada,Mitsuo Masuno,Tatsuro Kondoh,Toshiro Nagai,Hirofumi Ohashi,Kenji Naritomi,Masato Tsukahara,Yoshio Makita,Tateo Sugimoto,Tohru Sonoda,Tomoko Hasegawa,Yasuaki Chinen,Hiroaki Tomita,Akira Kinoshita,Tsuyoshi Mizuguchi,Koh-ichiro Yoshiura,Tohru Ohta,Tatsuya Kishino,Yoshimitsu Fukushima,Norio Niikawa,Naomichi Matsumoto +22 more
TL;DR: The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.
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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Norio Niikawa,Yoshikazu Kuroki,Tadashi Kajii,Nobuo Matsuura,Satoshi Ishikiriyama,Hidefumi Tonoki,Nobuyoshi Ishikawa,Yutaka Yamada,Masafumi Fujita,Hidehiko Umemoto,Yoshihiko Iwama,Ikuko Kondoh,Yoshimitsu Fukushima,Yasushi Nako,Ichiro Matsui,Tatsuhiko Urakami,Sekoiya Aritaki,Michiko Hara,Yasuyuki Suzuki,Hiroyuki Chyo,Yoshitsugu Sugio,Tomoko Hasegawa,Tsutomu Yamanaka,Ryuichi Tsukino,Akira Yoshida,Naoki Nomoto,Satomi Kawahito,Ryozo Aihara,Shigeki Toyota,Atsushi Ieshima,Hiromu Funaki,Kazuyuki Ishitobi,Satoshi Ogura,Toshiaki Furumae,Makoto Yoshino,Yoshiro Tsuji,Tatsuro Kondoh,Tadashi Matsumoto,Kyohko Abe,Naoki Harada,Teruhisa Miike,Shozo Ohdo,Kenji Naritomi,A. K. Abushwereb,O. H. Braun,Erich Schmid,John M. Opitz,James F. Reynolds +47 more
TL;DR: These 62 patients with the Kabuki make-up syndrome were collected in a collaborative study among 33 institutions and analyzed clinically, cytogenetically, and epidemiologically to delineate the phenotypic spectrum and to learn about its cause.
Journal ArticleDOI
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion
Naohiro Kurotaki,Naoki Harada,Osamu Shimokawa,Noriko Miyake,Hiroshi Kawame,Kimiaki Uetake,Yoshio Makita,Tatsuro Kondoh,Tsutomu Ogata,Tomoko Hasegawa,Toshiro Nagai,Takao Ozaki,Mayumi Touyama,Ruthie Shenhav,Hirofumi Ohashi,Livija Medne,Takashi Shiihara,Shigeyuki Ohtsu,Zen Ichiro Kato,Nobuhiko Okamoto,Junji Nishimoto,Dorit Lev,Yoko Miyoshi,Satoshi Ishikiriyama,Tohru Sonoda,Satoru Sakazume,Yoshimitsu Fukushima,Kenji Kurosawa,Jan Fang Cheng,Koh-ichiro Yoshiura,Tohru Ohta,Tatsuya Kishino,Norio Niikawa,Naomichi Matsumoto +33 more
TL;DR: A sequence‐based physical map was constructed and highly homologous sequences, i.e., possible low copy repeats (LCRs), in regions flanking proximal and distal breakpoints of the common deletion, suggests that LCRs may mediate the deletion.
Journal ArticleDOI
Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion
Remco Visser,Osamu Shimokawa,Naoki Harada,Akira Kinoshita,Tohru Ohta,Tohru Ohta,Norio Niikawa,Naomichi Matsumoto +7 more
TL;DR: The identification of a 3.0-kb major recombination hotspot within these LCRs is reported, in which several recombination-associated motifs were identified in the hotspot and/or its vicinity and a 10-fold average increase of a translin motif, as compared with the normal distribution within the L CRs, was recognized.