K
Kanji Yamamoto
Researcher at Shinshu University
Publications - 37
Citations - 1421
Kanji Yamamoto is an academic researcher from Shinshu University. The author has contributed to research in topics: Aceruloplasminemia & Ceruloplasmin. The author has an hindex of 17, co-authored 37 publications receiving 1377 citations.
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Journal ArticleDOI
A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans.
Kunihiro Yoshida,Kenichi Furihata,Shin'ichi Takeda,Akinori Nakamura,Kanji Yamamoto,Hiroshi Morita,Shuichi Hiyamuta,Shu-ichi Ikeda,Norikazu Shimizu,Nobuo Yanagisawa +9 more
TL;DR: The mutation in the Cp gene is associated with systemic hemosiderosis in humans because of a premature termination codon at the amino acid position 991 by defective splicing.
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Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a japanese family
Hiroshi Morita,Shu-ichi Ikeda,Kanji Yamamoto,Sayuri Morita,Kunihiro Yoshida,Shozo Nomoto,Masahiro Kato,Nobuo Yanagisawa +7 more
TL;DR: Examination of the central nervous system revealed severe destruction of the basal ganglia and dentate nucleus, with considerable iron deposition in neuronal and glial cells, whereas the cerebral cortex showed mildIron deposition in glial Cells without neuronal involvement.
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Effective restoration of dystrophin‐associated proteins in vivo by adenovirus‐mediated transfer of truncated dystrophin cDNAs
Katsutoshi Yuasa,Yuko Miyagoe,Kanji Yamamoto,Yo-ichi Nabeshima,George Dickson,Shin'ichi Takeda +5 more
TL;DR: A series of truncated dystrophin cDNAs introduced into skeletal muscle of adult mdx mice using the adenovirus vector with a strong CAG promoter expressed themselves successfully and recovered dyStrophin‐associated proteins effectively and offers the possibility of an approach utilizing newly developed virus vectors toward gene therapy of Duchenne muscular dystrophy.
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Hypersomnia and low CSF hypocretin-1 (orexin-A) concentration in a patient with multiple sclerosis showing bilateral hypothalamic lesions.
Takashi Kato,Takashi Kanbayashi,Kanji Yamamoto,Takeshi Nakano,Tetsuo SfflMIZU,Takao Hashimoto,Shu-ichi Ikeda +6 more
TL;DR: Findings suggest that the hypothalamic hypocretin (orexin) system may be crucial to maintaining the arousal level and that lesions in the system can cause hypersomnia in MS.
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A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.
TL;DR: Strong evidence is shown that anticipation in the transmission of Met30-TTR FAP is a true biological phenomenon and not all ascertainment biases could be eliminated.