K
Kazuhiro Sanpei
Researcher at Niigata University
Publications - 30
Citations - 2065
Kazuhiro Sanpei is an academic researcher from Niigata University. The author has contributed to research in topics: Trinucleotide repeat expansion & Spinocerebellar ataxia. The author has an hindex of 15, co-authored 28 publications receiving 1892 citations. Previous affiliations of Kazuhiro Sanpei include University of Tokyo.
Papers
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Journal ArticleDOI
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
Kazuhiro Sanpei,Hiroki Takano,Shuichi Igarashi,Tomoe Sato,Mutsuo Oyake,Hidenao Sasaki,Akemi Wakisaka,Kunio Tashiro,Y Ishida,Takeshi Ikeuchi,Reiji Koide,Masaaki Saito,Aki Sato,Toshihisa Tanaka,S Hanyu,Yoshihisa Takiyama,Masatoyo Nishizawa,N Shimizu,Yoshiko Nomura,Masaya Segawa,Kiyoshi Iwabuchi,I. Eguchi,Hirosato Tanaka,Hitoshi Takahashi,Shoji Tsuji +24 more
TL;DR: A novel strategy, the direct identification of repeat expansion and cloning technique (DIRECT), which allows selective detection of expanded GAG repeats and cloning of the genes involved and will dramatically accelerate the search for causative genes of neuropsychiatric diseases caused by trinucleotide repeat expansions.
Journal Article
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27
Hiroto Matsumine,Masaaki Saito,Satoe Shimoda-Matsubayashi,Hirosato Tanaka,A. Ishikawa,Y. Nakagawa-Hattori,M. Yokochi,T Kobayashi,Shuichi Igarashi,Hiroki Takano,Kazuhiro Sanpei,R Koike,H Mori,T Kondo,Y Mizutani,Alejandro A. Schäffer,Yasuhiro Yamamura,Shigenobu Nakamura,Shigeki Kuzuhara,Shoji Tsuji,Yoshikuni Mizuno +20 more
TL;DR: Strong evidence is discovered for the localization of the AR-JP gene at chromosome 6q25, including the SOD2 locus, by linkage analysis of diallelic polymorphism of the Mn-superoxide dismutase gene (SOD2).
Journal ArticleDOI
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura,Koichiro Doi,Jun Mitsui,Jun Yoshimura,Miho Matsukawa,Asao Fujiyama,Yasuko Toyoshima,Akiyoshi Kakita,Hitoshi Takahashi,Yutaka Suzuki,Sumio Sugano,Wei Qu,Kazuki Ichikawa,Hideaki Yurino,Koichiro Higasa,Shota Shibata,Aki Mitsue,Masaki Tanaka,Yaeko Ichikawa,Yuji Takahashi,Hidetoshi Date,Takashi Matsukawa,Junko Kanda,Fumiko Kusunoki Nakamoto,Mana Higashihara,Koji Abe,Ryoko Koike,Mutsuo Sasagawa,Yasuko Kuroha,Naoya Hasegawa,Norio Kanesawa,Takayuki Kondo,Takefumi Hitomi,Masayoshi Tada,Hiroki Takano,Yutaka Saito,Kazuhiro Sanpei,Osamu Onodera,Masatoyo Nishizawa,Masayuki Nakamura,Takeshi Yasuda,Yoshio Sakiyama,Mieko Otsuka,Akira Ueki,K. Kaida,Jun Shimizu,Ritsuko Hanajima,Toshihiro Hayashi,Yasuo Terao,Satomi Inomata-Terada,Masashi Hamada,Yuichiro Shirota,Akatsuki Kubota,Yoshikazu Ugawa,Kishin Koh,Yoshihisa Takiyama,Natsumi Ohsawa-Yoshida,Shoichi Ishiura,Shoichi Ishiura,Ryo Yamasaki,Akira Tamaoka,Hiroshi Akiyama,Taisuke Otsuki,Akira Sano,Akio Ikeda,Jun Goto,Shinichi Morishita,Shoji Tsuji,Shoji Tsuji +68 more
TL;DR: It is shown that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME), and RNA toxicity as the mechanism underlying disease pathogenesis is identified.
Journal ArticleDOI
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
Yoshihisa Takiyama,Shuichi Igarashi,Ekaterina Rogaeva,Kotaro Endo,Evgeny I. Rogaev,Hirosato Tanaka,R. Sherrington,Kazuhiro Sanpei,Yan Liang,Masaaki Saito +9 more
TL;DR: The disease phenotype is significantly more severe and had an early age of onset (16 years), which suggests that the expanded allele in the MJD1 gene could exert its effect either by a dominant negative effect (putatively excluded in HD) or by a gain of function effect as proposed for HD.
Journal ArticleDOI
Hypertrophic pachymeningitis: significance of myeloperoxidase anti-neutrophil cytoplasmic antibody
Akiko Yokoseki,Etsuji Saji,Musashi Arakawa,Takayuki Kosaka,Mariko Hokari,Yasuko Toyoshima,Kouichirou Okamoto,S. Takeda,Kazuhiro Sanpei,Hirotoshi Kikuchi,Shunsei Hirohata,Kouhei Akazawa,Akiyoshi Kakita,Hitoshi Takahashi,Masatoyo Nishizawa,Izumi Kawachi +15 more
TL;DR: Data indicate that most patients with myeloperoxidase-ANCA-positive hypertrophic pachymeningitis should be categorized as having the central nervous system-limited form of ANCA-associated vasculitis, consistent with the concept of ophthalmic-, pulmonary- or renal-limited vasculopathy.