Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Fumio Takada"'
Autor:
Nobuo Matsuura, Tadashi Kaname, Norio Niikawa, Yoshihide Ooyama, Osamu Shinohara, Yukifumi Yokota, Shigeyuki Ohtsu, Noriyuki Takubo, Kazuteru Kitsuda, Keiko Shibayama, Fumio Takada, Akemi Koike, Hitomi Sano, Yoshiya Ito, Kenji Ishikura
Publikováno v:
Endocrine Connections, Vol 11, Iss 10, Pp 1-9 (2022)
Objective: This study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is su
Externí odkaz:
https://doaj.org/article/63dadf17c2c844cfbeca1f4f723ed485
Autor:
Tomohiro Ishii, Masaki Takagi, Keisuke Nagasaki, Toshio Ohara, Kentaro Miyai, Tomoki Kosho, Fumio Takada, Gen Nishimura, Tomonobu Hasegawa
Publikováno v:
Endocrines, Vol 3, Iss 3, Pp 428-432 (2022)
Hypochondroplasia is an autosomal dominant genetic disorder due to a heterozygous pathogenic variant of the FGFR3 gene. The early diagnosis of hypochondroplasia is necessary, since growth hormone is effective for improving adult height. The genetic t
Externí odkaz:
https://doaj.org/article/9f9e93223aa640cd8433b10a80d515cf
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract Ankyloblepharon-ectodermal defect–cleft lip/palate syndrome and Rapp–Hodgkin syndrome are well-known TP63-related autosomal-dominant genetic disorders with various similar ectodermal dysplasias. In this study, whole-exome sequencing reve
Externí odkaz:
https://doaj.org/article/64c1d89f51aa450e92c87367057ef47f
Autor:
Asuka Hori, Hiroko Ogata-Kawata, Aiko Sasaki, Ken Takahashi, Kosuke Taniguchi, Ohsuke Migita, Akihiro Kawashima, Aikou Okamoto, Akihiko Sekizawa, Haruhiko Sago, Fumio Takada, Kazuhiko Nakabayashi, Kenichiro Hata
Publikováno v:
BMC Research Notes, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Objective We aimed to simplify our fetal RHD genotyping protocol by changing the method to attach Illumina’s sequencing adaptors to PCR products from the ligation-based method to a PCR-based method, and to improve its reliability and robus
Externí odkaz:
https://doaj.org/article/6ef6fc351f874c568de86fe1c3e83f01
Autor:
Asuka Hori, Ohsuke Migita, Rika Kawaguchi-Kawata, Yoko Narumi-Kishimoto, Fumio Takada, Kenichiro Hata
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple co
Externí odkaz:
https://doaj.org/article/a2889c71fc1641f9b11cf9b77fd7efd3
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shirou Matsumoto, Fumio Takada, Kazuya Tsuboi, Akira Ohtake, Fumio Endo, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background In Japan, newborn and high‐risk screening for Fabry disease (FD), an inherited X‐linked disorder caused by GLA mutations, using dried blood spots was initiated in 2006. In newborn screening, 599,711 newborns were screened by D
Externí odkaz:
https://doaj.org/article/08140c4e5266414f9f2ee3a4e3e8df16
Autor:
Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Onishi, Hiromi Kamura, Kazuaki Kojima, Hiroki Kikuchi, Miho Terao, Tohru Sugawara, Ohsuke Migita, Masayo Kagami, Tsuyoshi Isojima, Yu Yamaguchi, Keiko Wakui, Hirofumi Ohashi, Kenji Shimizu, Seiji Mizuno, Nobuhiko Okamoto, Yoshimitsu Fukushima, Fumio Takada, Kenjiro Kosaki, Shuji Takada, Hidenori Akutsu, Kiyoe Ura, Kazuhiko Nakabayashi, Kenichiro Hata
PurposeWolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by the hemizygous deletion of the distal short arm of chromosome 4 whereNSD2is, reportedly exhibits specific DNA methylation signatures in peripheral blood cells. However, respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bf314c316d110e2bb983466a7a44174
https://doi.org/10.1101/2023.01.06.522834
https://doi.org/10.1101/2023.01.06.522834
Autor:
Aiko Sasaki, Haruhiko Sago, Kazuhiko Nakabayashi, Kosuke Taniguchi, Aikou Okamoto, Akihiko Sekizawa, Asuka Hori, Ken Takahashi, Akihiro Kawashima, Kenichiro Hata, Ohsuke Migita, Fumio Takada, Hiroko Ogata-Kawata
Publikováno v:
BMC Research Notes, Vol 14, Iss 1, Pp 1-7 (2021)
BMC Research Notes
BMC Research Notes
Objective We aimed to simplify our fetal RHD genotyping protocol by changing the method to attach Illumina’s sequencing adaptors to PCR products from the ligation-based method to a PCR-based method, and to improve its reliability and robustness by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7f611e56d2bd132202ba0ec2a6f15d6
https://doaj.org/article/6ef6fc351f874c568de86fe1c3e83f01
https://doaj.org/article/6ef6fc351f874c568de86fe1c3e83f01
Autor:
Soichiro, Shimura, Hideyasu, Tsumura, Naomi, Araki, Rika, Kawada, Sho, Shimazu, Mina, Waraya, Tsutomu, Yoshida, Fumio, Takada, Masatsugu, Iwamura, Jiichiro, Sasaki
Publikováno v:
Gan to kagaku ryoho. Cancerchemotherapy. 49(10)
Prospective studies have demonstrated the efficacy of pembrolizumab in patients with previously treated unresectable or metastatic microsatellite instability-high(MSI-H)cancers. Pembrolizumab has been covered by the Japanese health insurance system s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6a4817b5c75aed437c70690759a93642
https://pubmed.ncbi.nlm.nih.gov/36281602
https://pubmed.ncbi.nlm.nih.gov/36281602
Autor:
Yoko Narumi-Kishimoto, Fumio Takada, Kenichiro Hata, Ohsuke Migita, Rika Kawaguchi-Kawata, Asuka Hori
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f96e26789a11df228bae71e2ddab8dd8
https://doi.org/10.1038/s41439-021-00166-6
https://doi.org/10.1038/s41439-021-00166-6