Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Tatsuya Kishino"'
Publikováno v:
Epigenetics, Vol 16, Iss 7, Pp 729-740 (2021)
Imprinted genes are differentially expressed in a parent-of-origin-specific manner. Parental origin of the alleles is discriminated by intragenic DNA polymorphisms. Comparisons of parental allelic expression have been analysed by semiquantitative RT-
Externí odkaz:
https://doaj.org/article/cee7d55d15ad40fcb710f8654d987308
Autor:
Yoshiro Morimoto, Shinji Ono, Shintaro Yoshida, Hiroyuki Mishima, Akira Kinoshita, Takeshi Tanaka, Yoshihiro Komohara, Naohiro Kurotaki, Tatsuya Kishino, Yuji Okazaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Akira Imamura
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Genetic and epidemiological evidence has suggested that genetic factors are important in schizophrenia, although its pathophysiology is poorly understood. This study used whole-exome sequencing to investigate potential novel schizophrenia-ca
Externí odkaz:
https://doaj.org/article/a4ec410821e14154a3dd5e8f9b9d61a8
Autor:
Kiyonori Miura, Tatsuya Kishino, En Li, Hayley Webber, Pieter Dikkes, Gregory L. Holmes, Joseph Wagstaff
Publikováno v:
Neurobiology of Disease, Vol 9, Iss 2, Pp 149-159 (2002)
Angelman syndrome (AS), characterized by motor dysfunction, mental retardation, and seizures, is caused by several genetic etiologies involving chromosome 15q11–q13, including mutations of the UBE3A gene. UBE3A encodes UBE3A/E6-AP, a ubiquitin-prot
Externí odkaz:
https://doaj.org/article/853ef29b3ca04dee881768324d588a4d
Autor:
Takeshi Tanaka, Koh-ichiro Yoshiura, Hiroki Ozawa, Yoshiro Morimoto, Akira Kinoshita, Shinji Ono, Tatsuya Kishino, Naohiro Kurotaki, Akira Imamura, Hiroyuki Mishima, Yuji Okazaki, Shintaro Yoshida, Yoshihiro Komohara
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021)
Translational Psychiatry
Translational Psychiatry
Genetic and epidemiological evidence has suggested that genetic factors are important in schizophrenia, although its pathophysiology is poorly understood. This study used whole-exome sequencing to investigate potential novel schizophrenia-causing gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d156a06232f0f97b3138a87eea1e24b
https://doaj.org/article/a4ec410821e14154a3dd5e8f9b9d61a8
https://doaj.org/article/a4ec410821e14154a3dd5e8f9b9d61a8
Autor:
Akira Kinoshita, Tatsuya Kishino, Ryoichi Mori, Naoko Asahina, Yutaka Negishi, Hideaki Shiraishi, Kana Hosoki, Koh-ichiro Yoshiura, Masahiro Nakashima, Kiyotaka Tomiwa, Katsuya Matsuda, Shinji Saitoh, Hiroyuki Mishima, Naoko Ishihara, Susumu Tanimura, Kaname Ohyama
Publikováno v:
Development. 148
Mutations in ITPR1 cause ataxia and aniridia in individuals with Gillespie syndrome (GLSP). However, the pathogenic mechanisms underlying aniridia remain unclear. We identified a de novo GLSP mutation hotspot in the 3′-region of ITPR1 in five indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1e41fcef1d28db166ddd512ce170472
https://doi.org/10.1242/dev.188755
https://doi.org/10.1242/dev.188755
Autor:
Tatsuya Kishino, Yoshihiro Komohara, Koh-ichiro Yoshiura, Naohiro Yamaguchi, Chisei Satoh, Miako Sakaguchi, Hiroyuki Mishima, Akira Imamura, Hiroki Ozawa, Masahiro Nakashima, Naohiro Kurotaki, Shintaro Yoshida, Takeshi Tanaka, Akira Kinoshita, Shinji Ono, Katsuya Matsuda, Yoshiro Morimoto
Publikováno v:
Neurology. 92:e2364-e2374
OBJECTIVE: To identify genes related to normal-pressure hydrocephalus (NPH) in one Japanese family with several members with NPH. METHODS:We performed whole-exome sequencing (WES) on a Japanese family with multiple individuals with NPH and identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad6cca92d39ffc9ebd8e96f7c0398351
https://doi.org/10.1212/wnl.0000000000007505
https://doi.org/10.1212/wnl.0000000000007505
Publikováno v:
Epigenetics
Imprinted genes are differentially expressed in a parent-of-origin-specific manner. Parental origin of the alleles is discriminated by intragenic DNA polymorphisms. Comparisons of parental allelic expression have been analysed by semiquantitative RT-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7eb6c82c1508491a7169dd6f14da9aa
https://pubmed.ncbi.nlm.nih.gov/32970510
https://pubmed.ncbi.nlm.nih.gov/32970510
Publikováno v:
The Proceedings of Conference of Kansai Branch. :2206
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cf763f582802d81cd6f89098f9025dc
https://doi.org/10.1299/jsmekansai.2021.96.2206
https://doi.org/10.1299/jsmekansai.2021.96.2206
Autor:
Yoshiro, Morimoto, Shintaro, Yoshida, Akira, Kinoshita, Chisei, Satoh, Hiroyuki, Mishima, Naohiro, Yamaguchi, Katsuya, Matsuda, Miako, Sakaguchi, Takeshi, Tanaka, Yoshihiro, Komohara, Akira, Imamura, Hiroki, Ozawa, Masahiro, Nakashima, Naohiro, Kurotaki, Tatsuya, Kishino, Koh-Ichiro, Yoshiura, Shinji, Ono
Publikováno v:
Neurology. 92(20)
To identify genes related to normal-pressure hydrocephalus (NPH) in one Japanese family with several members with NPH.We performed whole-exome sequencing (WES) on a Japanese family with multiple individuals with NPH and identified a candidate gene. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::454f7c190ffd3914e78194b3d2d41a06
https://pubmed.ncbi.nlm.nih.gov/31004073
https://pubmed.ncbi.nlm.nih.gov/31004073
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society. 29(9-10)
Necdin (Ndn) transgenic (Tg) mice were generated with a bacterial artificial chromosome (BAC) clone. Droplet digital PCR (ddPCR) and inverse PCR methods revealed that the transgene consisted of four fragments with a total length of 171 kb. Two of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08b51f5ae472c4821d21afa869588edf
https://pubmed.ncbi.nlm.nih.gov/30225647
https://pubmed.ncbi.nlm.nih.gov/30225647