Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Kensaku Sasaki"'
Autor:
Michiko Matsuse, Kensaku Sasaki, Eijun Nishihara, Shigeki Minami, Chisa Hayashida, Hisayoshi Kondo, Keiji Suzuki, Vladimir Saenko, Koh-ichiro Yoshiura, Norisato Mitsutake, Shunichi Yamashita
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e36063 (2012)
The aim of the present study was to investigate chromosomal aberrations in sporadic Japanese papillary thyroid carcinomas (PTCs), concomitant with the analysis of oncogene mutational status. Twenty-five PTCs (11 with BRAF(V600E), 4 with RET/PTC1, and
Externí odkaz:
https://doaj.org/article/a4e478be86dc4af6a47555c9e8bfc019
Autor:
Yasufumi Ohtsuka, Nobuhiko Okamoto, Koh-ichiro Yoshiura, Hitomi Yatsuki, Yuichi Takama, Kensaku Sasaki, Akio Kubota, Tsunehiro Mukai, Hidenobu Soejima, H. Yoshinaga, Ken Higashimoto, Kosuke Jozaki, M. Nakayama, Keiichiro Joh, Kenichi Nishioka
Publikováno v:
Clinical Genetics. 88:261-266
Approximately 20% of Beckwith-Wiedemann syndrome (BWS) cases are caused by mosaic paternal uniparental disomy of chromosome 11 (pUPD11). Although pUPD11 is usually limited to the short arm of chromosome 11, a small minority of BWS cases show genome-w
Autor:
Chisei Satoh, Kensaku Sasaki, Takumi Kurabayashi, Koh-ichiro Yoshiura, Hideaki Masuzaki, Tatsuya Ishiguro, Kiyonori Miura
Publikováno v:
Journal of human genetics. 62(9)
The aim of this study was to investigate the parthenogenetic origin of fetiform teratoma by using molecular genetic studies and methylation status analyses. A fetiform teratoma was removed from a 35-year-old nulligravida woman. Genotyping of microsat
Publikováno v:
Gene. 512(2):267-274
Whole chromosomal and segmental uniparental disomy (UPD) is one of the causes of imprinting disorder and other recessive disorders. Most investigations of UPD were performed only using cases with relevant phenotypic features and included few markers.
Autor:
Shunichi Yamashita, Alan R. Lehmann, Akira Kinoshita, Shinji Ono, Kaname Ohyama, Norisato Mitsutake, Michiko Matsuse, Katsuya Takenaka, Tomoo Ogi, Hiroyuki Mishima, Yuka Nakazawa, Kensaku Sasaki, Ritsuko Masuyama, Satoshi Tateishi, Yoshito Takahashi, Koh-ichiro Yoshiura, Takashi Kudo, Atsushi Utani, Miria Stefanini, Masayo Nomura, Kosei Ito, Tiziana Nardo, Mayuko Shimada, Hanoch Slor
Publikováno v:
Nature Genetics. 44:586-592
UV-sensitive syndrome (UV SS) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma. Despite mild clinical features, cells from individuals with UV SS, like Cockayne syndrome cells, are very UV sensitive and are defic
Autor:
Osamu Shimokawa, Koh-ichiro Yoshiura, Kensaku Sasaki, Hiroyuki Mishima, Nobuhiko Okamoto, Kenjiro Kosaki, Tohru Yorifuji, Naoki Harada
Publikováno v:
Clinical Genetics. 80:478-483
We report a case of segmental uniparental maternal hetero- and isodisomy involving the whole of chromosome 6 (mat-hUPD6 and mat-iUPD6) and a cullin 7 (CUL7) gene mutation in a Japanese patient with 3M syndrome. 3M syndrome is a rare autosomal recessi
Publikováno v:
Journal of the Japan Society of Waste Management Experts. 15:19-27
砥材とその結合材であるフェノール樹脂 (PR) から構成される工業用砥石廃材から砥材を回収することを目的として, 砥石廃材 (砥石A: Al2O3/SiC/PRおよび砥石B: Al2O3/PR/FeS2/K2SO4/KCI/CaO/ガラス繊
Autor:
Norio Niikawa, Masanori Egashira, Hiroyuki Moriuchi, Naoki Harada, Ritsuko K Pooh, Koh-ichiro Yoshiura, Kensaku Sasaki, Osamu Shimokawa, Tatsuro Kondoh, Hideo Kuniba
Publikováno v:
American Journal of Medical Genetics Part A. :785-787
Autor:
Tomoo, Ogi, Yuka, Nakazawa, Kensaku, Sasaki, Chaowan, Guo, Koh-Ichiro, Yoshiura, Atsushi, Utani, Yuji, Nagayama
Publikováno v:
Seikagaku. The Journal of Japanese Biochemical Society. 85(3)
Autor:
Kensaku Sasaki, Toshimitsu Takayanagi, Ken Higashimoto, Akiko Hirose, Yoriko Watanabe, Kayoko Koide, Hitomi Yatsuki, Yasufumi Ohtsuka, Koh-ichiro Yoshiura, Hidenobu Soejima, Makoto Nomiyama, Junichiro Okada, Keiichiro Joh, Kenichi Nishioka, Ryuji Fukuzawa, Toshiyuki Maeda
Perlman syndrome is a rare, autosomal recessive overgrowth disorder. Recently, the deletion of exon 9 and other mutations of the DIS3L2 gene have been reported in patients; however, the mechanism behind this deletion is still unknown. We report the h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::837b55693227b4ad827c00adf1daefdc
https://europepmc.org/articles/PMC3798850/
https://europepmc.org/articles/PMC3798850/