Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Tomonari Awaya"'
Autor:
Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya, Masahiko Ajiro, Atsuko Takeuchi, Hisahide Nishio, Masatoshi Hagiwara, Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-year-old female patient with
Externí odkaz:
https://doaj.org/article/cbd243c811c94a3bae270d869c03c41a
Autor:
Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada, Kenjiro Kosaki, Masatoshi Hagiwara
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-14 (2023)
Abstract Background Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic variants (approximately 1,5
Externí odkaz:
https://doaj.org/article/abe57e8f8eeb4c5d89716d6f96612afb
Autor:
Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, Ryosuke Takahashi, Ichizo Nishino, Masatoshi Hagiwara
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 404-412 (2023)
Fukutin (FKTN) c.647+2084G>T creates a pseudo-exon with a premature stop codon, which causes Fukuyama congenital muscular dystrophy (FCMD). We aimed to ameliorate aberrant splicing of FKTN caused by this variant. We screened compounds focusing on spl
Externí odkaz:
https://doaj.org/article/1c5129f55e474d49b6d07d5fc97c7b1d
Autor:
Motoyasu Hosokawa, Ryuta Mikawa, Atsuko Hagiwara, Yukiko Okuno, Tomonari Awaya, Yuki Yamamoto, Senye Takahashi, Haruka Yamaki, Mitsujiro Osawa, Yasuhiro Setoguchi, Megumu K. Saito, Shinji Abe, Toyohiro Hirai, Shimpei Gotoh, Masatoshi Hagiwara
Publikováno v:
iScience, Vol 26, Iss 10, Pp 107731- (2023)
Summary: Interstitial lung disease (ILD) represents a large group of diseases characterized by chronic inflammation and fibrosis of the lungs, for which therapeutic options are limited. Among several causative genes of familial ILD with autosomal dom
Externí odkaz:
https://doaj.org/article/268ac53d2aa14172adca53a90f86df67
Publikováno v:
Pediatrics and Neonatology, Vol 63, Iss 3, Pp 298-300 (2022)
Externí odkaz:
https://doaj.org/article/a24d1e72948d400ba3049a7d716e00be
Autor:
Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Rolenz Studer, Adrian R. Krainer, Masatoshi Hagiwara
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows
Externí odkaz:
https://doaj.org/article/41819a0db2e34aa3ab64cc45ca2565eb
Autor:
Masatoshi Nakata, Ryo Kimura, Yasuko Funabiki, Tomonari Awaya, Toshiya Murai, Masatoshi Hagiwara
Publikováno v:
Molecular Brain, Vol 12, Iss 1, Pp 1-4 (2019)
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. Owing to the difficulty of clinical diagnosis, ASD without intellectual disability (i.e., high-functioni
Externí odkaz:
https://doaj.org/article/955c5d10450141b9aaffc46cf7cbf477
Autor:
Yuji Kuramochi, Tomonari Awaya, Mami Matsuo-Takasaki, Miho Takami, Yuri An, Jingyue Li, Yasuko Hemmi, Tamami Wakabayashi, Yutaka Arai, Jun Inoue, Michiya Noguchi, Yukio Nakamura, Isao Asaka, Kazunori Akimoto, Megumu K. Saito, Yohei Hayashi
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102337- (2021)
Adrenoleukodystrophy (ALD) is an X-linked genetic disorder, characterized by demyelination in the central nervous system and adrenal insufficiency. Human induced pluripotent stem cell (hiPSC) lines derived from two Japanese male patients with ALD wer
Externí odkaz:
https://doaj.org/article/193cf00ce38e4473be44dc32ab02b779
Autor:
Masahiko Ajiro, Tomonari Awaya, Young Jin Kim, Kei Iida, Masatsugu Denawa, Nobuo Tanaka, Ryo Kurosawa, Shingo Matsushima, Saiko Shibata, Tetsunori Sakamoto, Lorenz Studer, Adrian R. Krainer, Masatoshi Hagiwara
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/72116892bc2c4600880add1bb0881b8e
Autor:
Ryo Kimura, Yuko Ishii, Kiyotaka Tomiwa, Tomonari Awaya, Masatoshi Nakata, Takeo Kato, Shin Okazaki, Toshio Heike, Masatoshi Hagiwara
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Williams–Beuren syndrome (WBS) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion on chromosome 7q11.23. Though at present there is a limited number of reports on WBS patients with tumors, most cases are related to blood
Externí odkaz:
https://doaj.org/article/53c7fed34ca64f7ab935c60947b44e90