Tokushima University / Educator and Researcher Directory --- Nazere, Keyoumu

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Tokushima University ⟩ Graduate School of Biomedical Sciences ⟩ 医学域 ⟩ 先端基礎医学教育研究プロジェクト ⟩
Tokushima University ⟩ Graduate School of Biomedical Sciences ⟩ 医学域 ⟩ Medical Science ⟩ Physiological Sciences ⟩ 遺伝情報医学 ⟩

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Research

Field of Study

Subject of Study

Book / Paper

Academic Paper (Judged Full Paper):

1.	Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto and Yuishin Izumi : Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report., Human Genome Variation, Vol.11, No.1, 2024. (Summary) Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes. (Tokushima University Institutional Repository) ● Metadata: 2012806 (Link to Publication Site) ● Publication site (DOI): 10.1038/s41439-024-00287-8 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 39143067 ● Search Scopus @ Elsevier (PMID): 39143067 ● Search Scopus @ Elsevier (DOI): 10.1038/s41439-024-00287-8 (Tokushima University Institutional Repository: 2012806, DOI: 10.1038/s41439-024-00287-8, PubMed: 39143067)
2.	Takafumi Tomenaga, Shinobu Minatani, Hiroto Namba, Akitoshi Takeda, Takahito Yoshizaki, Joji Kawabe, Keyoumu Nazere, Hiroyuki Morino, Makoto Higuchi, Tomoyasu Matsubara, Hiroyuki Hatsuta, Masato Hasegawa, Shigeo Murayama and Yoshiaki Itoh : An autopsy case of type A FTLD-TDP with a GRN mutation presenting with the logopenic variant of primary progressive aphasia at onset and with corticobasal syndrome subsequently., Neuropathology, 2024. (Summary) A 68-year-old woman presented with difficulty finding words and writing characters. Neurological examination led to clinical diagnosis at onset of the logopenic variant of primary progressive aphasia accompanied with ideomotor apraxia, visuospatial agnosia on the right, and Gerstmann syndrome. Bradykinesia and rigidity on the right with shuffling gait developed after one year. Treatment with L-dopa had no effect. The patient was diagnosed with corticobasal syndrome (CBS). Brain magnetic resonance imaging revealed diffuse cortical atrophy dominantly on the left, especially in the temporal, parietal, and occipital lobes. Positron emission tomography did not reveal any significant accumulation of amyloid β or tau protein. She died five years later. Neuropathological examination revealed diffuse cortical atrophy with severe neuronal loss and fibrous gliosis in the cortex. Neuronal cytoplasmic inclusions, short dystrophic neurites, and, most notably, neuronal intranuclear inclusions, all immunoreactive for phosphorylated TDP-43, were observed. Western blotting revealed a full length and fragments of phosphorylated TDP-43 at 45 and 23kDa, respectively, confirming the pathological diagnosis of type A FTLD-TDP. Whole exome sequencing revealed a pathogenic mutation in GRN (c.87dupC). FTLD-TDP should be included in the differential diagnosis of CBS. (Link to Publication Site) ● Publication site (DOI): 10.1111/neup.12980 (Link to Search Site for Scientific Articles) ● PubMed @ National Institutes of Health, US National Library of Medicine (PMID): 38715398 ● Search Scopus @ Elsevier (PMID): 38715398 ● Search Scopus @ Elsevier (DOI): 10.1111/neup.12980 (DOI: 10.1111/neup.12980, PubMed: 38715398)

Proceeding of International Conference:

1.	山内翔葵, 橘このか, Ryosuke Miyamoto, Nagako Murase, 武藤浩平, 福本竜也, Yuki Kuwano, Keyoumu Nazere, Ryuji Kaji, Hiroyuki Morino and Yuishin Izumi : 本邦におけるVPS16ジストニア (DYT-VPS16) の臨床的特徴, 第65回日本神経学会学術大会/AOCN2024, Jun. 2024.
2.	Keyoumu Nazere, Konoka Tachibana, Yuki Kuwano, Ryosuke Miyamoto, Ryuji Kaji, Yuishin Izumi and Hiroyuki Morino : The identification and functional analysis of novel variants in ADCY5- related movement disorders, 第65回日本神経学会学術大会/AOCN2024, May 2024.
3.	Yuki Kuwano, Keyoumu Nazere and Hiroyuki Morino : The biological role of m6A RNA methylation in cytoplasmic localization of TDP-43, 第65回日本神経学会学術大会/AOCN2024, May 2024.

Proceeding of Domestic Conference:

1.	Yuki Kuwano, Keyoumu Nazere, Kensei Nishida and Hiroyuki Morino : 抗老化RNA uc.138 のm6Aメチル化修飾を介した大腸がん悪性化メカニズム, 第46回日本分子生物学会年会, Dec. 2023.
2.	YAMAUCHI Shoma, Ryosuke Miyamoto, MUTO Kohei, Yuki Kuwano, Keyoumu Nazere, Kensei Nishida, TACHIBANA Konoka, Yuishin Izumi and Hiroyuki Morino : Search for Pathogenic Variant of ALS by Prioritization based on Phenotype, 第64回日本神経学会学術大会, Jun. 2023.

Et cetera, Workshop:

1.	Yuki Kuwano, Keyoumu Nazere and Hiroyuki Morino : m6A RNAメチル化がトリガーするALS原因因子TDP-43の細胞質封入体形成の調節機構, 先端酵素学研究所交流シンポジウム, Aug. 2024.

Grants-in-Aid for Scientific Research (KAKEN Grants Database @ NII.ac.jp)

Search by Researcher Number (60976108)