T
Takanobu Otomo
Researcher at Kawasaki Medical School
Publications - 35
Citations - 6058
Takanobu Otomo is an academic researcher from Kawasaki Medical School. The author has contributed to research in topics: Mucolipidosis & Autophagy. The author has an hindex of 14, co-authored 30 publications receiving 5463 citations. Previous affiliations of Takanobu Otomo include Osaka University.
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Journal ArticleDOI
A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene
TL;DR: Based on clinical features, imaging findings and genetic abnormalities, this patient was diagnosed with hereditary spastic paraplegia 48 (SPG48), which is a pathogenic variant of adaptor-related protein complex 5 subunit zeta 1 (AP5Z1) that binds to both spastizin and spatacsin.
Journal ArticleDOI
Mucolipidosis II and III with neurological symptoms due to spinal cord compression.
Sachiko Nakaoka,Hidehito Kondo,Keiko Matsuoka,Toko Shibuya,Takanobu Otomo,Yusuke Hamada,Kenichi Sakamoto,Keiichi Ozono,Norio Sakai +8 more
TL;DR: In this article, spinal cord compression due to glycosaminoglycan (GAG) accumulation is a critical complication that can cause significant neurological and respiratory morbidities in patients with mucopolysaccharidoses.
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A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
V. A. Sofronova,Yu Fukushima,Mitsuo Masuno,Mami Naka,Miho Nagata,Yasuki Ishihara,Yohei Miyashita,Yoshihiro Asano,Takahito Moriwaki,Rina Iwata,Seigo Terawaki,Yasuko Yamanouchi,Takanobu Otomo +12 more
TL;DR: In this article , the authors reported a case of a 3-year 8-month-old male with a novel nonsense variant (NM_001374820.1:c.4282C > T, p(Gln 1428*)) in the ARID1B gene, which was identified with whole-exome sequencing.
Journal ArticleDOI
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
V. A. Sofronova,Yu Fukushima,Mitsuo Masuno,Mami Naka,Miho Nagata,Yasuki Ishihara,Yohei Miyashita,Yoshihiro Asano,Takahito Moriwaki,Rina Iwata,Seigo Terawaki,Yasuko Yamanouchi,Takanobu Otomo +12 more
TL;DR: In this article , the authors reported a case of a 3-year 8-month-old male with a novel nonsense variant (NM_001374820.1:c.4282C > T, p(Gln 1428*)) in the ARID1B gene, which was identified with whole-exome sequencing.
Journal ArticleDOI
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines
V. A. Sofronova,E. E. Gurinova,D. A. Petukhova,Hiroko Fukamatsu,Takenobu Yamamoto,Yumi Aoyama,Polina I. Golikova,Gavril Moskvitin,Roza Ivanova,Mira T Savvina,Filipp F Vasilev,Takahito Moriwaki,Seigo Terawaki,Aitalina Sukhomyasova,N. R. Maksimova,Takanobu Otomo +15 more
TL;DR: A case of an eight-year-old boy with mucopolysaccharidosis II with atypical skin lesions of hyperpigmented streaks along Blaschko's lines was reported in this paper .