Zobrazeno 1 - 10
of 209
pro vyhledávání: '"Tatsuo Matsunaga"'
Publikováno v:
BMC Research Notes, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Objectives The crystal structure of the six protomers of gap junction protein beta 2 (GJB2) enables prediction of the effect(s) of an amino acid substitution, thereby facilitating investigation of molecular pathogenesis of missense variants
Externí odkaz:
https://doaj.org/article/f1290a6c499d4b849999321a6c86750c
Autor:
Chika Saegusa, Hideki Mutai, Tsubasa Saeki, Saeko Matsuzaki, Akifumi Mizukoshi, Shin-ichiro Kitajiri, Tatsuo Matsunaga, Makoto Hosoya, Hideyuki Okano, Masato Fujioka
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103489- (2024)
Disease-related cells differentiated from patient-derived iPSCs are useful for elucidating the pathophysiological mechanisms underlying these diseases. In this study, four iPSC lines were established from independent patients with sensorineural heari
Externí odkaz:
https://doaj.org/article/7fec7d0c2ef64f9eb5fda29de5d42d28
Autor:
Yusuke Masano, Chika Saegusa, Mitsuru Ishikawa, Tatsuo Matsunaga, Hideyuki Okano, Masato Fujioka
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103452- (2024)
We report the establishment of a human induced pluripotent stem cell (iPSC) line from a 54-year-old male patient with an A1555G mutation in the mitochondrial 12S ribosomal RNA gene (MTRNR1), associated with sensorineural hearing loss. The established
Externí odkaz:
https://doaj.org/article/a3fc1b1467a04b1eabb9cad2805855bd
Autor:
Tomokatsu Udagawa, Erisa Takahashi, Norifumi Tatsumi, Hideki Mutai, Hiroki Saijo, Yuko Kondo, Patrick J. Atkinson, Tatsuo Matsunaga, Mamoru Yoshikawa, Hiromi Kojima, Masataka Okabe, Alan G. Cheng
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Cochlear melanocytes are intermediate cells in the stria vascularis that generate endocochlear potentials required for auditory function. Human PAX3 mutations cause Waardenburg syndrome and abnormalities of skin and retinal melanocytes, mani
Externí odkaz:
https://doaj.org/article/56000f44d60b4f52be0cf622884bfdc6
Autor:
Naoki Oishi, Masaru Noguchi, Masato Fujioka, Kiyomitsu Nara, Koichiro Wasano, Hideki Mutai, Rie Kawakita, Ryota Tamura, Kosuke Karatsu, Yukina Morimoto, Masahiro Toda, Hiroyuki Ozawa, Tatsuo Matsunaga
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract NF2-related schwannomatosis (NF2) is an autosomal dominant genetic disorder caused by variants in the NF2 gene. Approximately 50% of NF2 patients inherit pathogenic variants, and the remainder acquire de novo variants. NF2 is characterized b
Externí odkaz:
https://doaj.org/article/c7430bcd3051471daf89fb06f12545aa
Autor:
Hideki Mutai, Yukihide Momozawa, Yoichiro Kamatani, Atsuko Nakano, Hirokazu Sakamoto, Tetsuya Takiguchi, Kiyomitsu Nara, Michiaki Kubo, Tatsuo Matsunaga
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-17 (2022)
Abstract Background Heterogeneous genetic loci contribute to hereditary hearing loss; more than 100 deafness genes have been identified, and the number is increasing. To detect pathogenic variants in multiple deafness genes, in addition to novel cand
Externí odkaz:
https://doaj.org/article/ea37ea9188d24a9bb98645768f046570
Autor:
Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
Abstract Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not satisfy the diagnostic criteria, despite carrying a pathogenic variant (P variant) or a likely pathogenic variant (LP variant) of a causative gene. P/LP
Externí odkaz:
https://doaj.org/article/4493ac24dd0e4f55b506ef65f709bc2f
Autor:
Kazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, Hidenori Haruna, Satomi Inoue, Haruka Murakami, Tatsuo Matsunaga, Takeshi Iwata, Kazushige Tsunoda, Kaoru Fujinami
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract 2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood on
Externí odkaz:
https://doaj.org/article/1a70d1b9a71d4787b13f5b984bedb2c3
Autor:
Makoto Hosoya, Tsubasa Saeki, Chika Saegusa, Tatsuo Matsunaga, Hideyuki Okano, Masato Fujioka, Kaoru Ogawa
Publikováno v:
Regenerative Therapy, Vol 10, Iss , Pp 54-63 (2019)
Introduction: Pendred syndrome is an autosomal-recessive disease characterized by congenital hearing loss and thyroid goiter. Previously, cell stress susceptibilities were shown to increase in patient-derived cells with intracellular aggregation usin
Externí odkaz:
https://doaj.org/article/6a16fb8e4af04d7ea2e54693838fd84c
Autor:
Hideki Mutai, Koichiro Wasano, Yukihide Momozawa, Yoichiro Kamatani, Fuyuki Miya, Sawako Masuda, Noriko Morimoto, Kiyomitsu Nara, Satoe Takahashi, Tatsuhiko Tsunoda, Kazuaki Homma, Michiaki Kubo, Tatsuo Matsunaga
Publikováno v:
PLoS Genetics, Vol 16, Iss 4, p e1008643 (2020)
Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the causative genes. Further, some genes involved in hereditary hearing loss have yet to be identified. Using whole-exome analysis of three families with congenital, s
Externí odkaz:
https://doaj.org/article/a1fd6ee65284460e8b9ac7c9e5a2b959