Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Chie, Oshikawa"'
Autor:
Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-Ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-Ichi Usami
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193359 (2018)
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible f
Externí odkaz:
https://doaj.org/article/d12e1603260240488c28c6206135a593
Autor:
Hidekane Yoshimura, Satoshi Iwasaki, Shin-Ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-Ichi Usami
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90688 (2014)
Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack o
Externí odkaz:
https://doaj.org/article/079832764be845509f62076b09ea6131
Autor:
Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e63231 (2013)
The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) summarize clinical characteristics. In ad
Externí odkaz:
https://doaj.org/article/6e2c9738fca64aa9baed05ddad10ee62
Autor:
Tetsuo Ikezono, Shin-ichi Usami, Nobuhiko Okamoto, Shin-ya Nishio, Satoko Abe, Maiko Miyagawa, Natsumi Uehara, Hideaki Moteki, Misako Hyogo, Shin-ichiro Kitajiri, Shinya Morita, Timothy F. Day, Chie Oshikawa, Shinichiro Oka, Shuji Izumi, Jun Nakayama
Publikováno v:
Genes
Volume 11
Issue 3
Genes, Vol 11, Iss 3, p 273 (2020)
Volume 11
Issue 3
Genes, Vol 11, Iss 3, p 273 (2020)
MYO6 is known as a genetic cause of autosomal dominant and autosomal recessive inherited hearing loss. In this study, to clarify the frequency and clinical characteristics of hearing loss caused by MYO6 gene mutations, a large-scale genetic analysis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72dce062f08743536d46f59f4ac3bc87
Autor:
Hirofumi Sakaguchi, Yuika Sakurai, Chie Oshikawa, Kenji Ohyama, Shin-ya Nishio, Yasuhiro Arai, Hideaki Moteki, Jun Shinagawa, Takashi Ishino, Shin-ichi Usami, Satoshi Iwasaki, Masahiro Takahashi, Natsumi Uehara, Koshi Otsuki, Yumi Ohta, Shin Masuda, Satoko Abe, Naoko Sakuma
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Variants in the EYA4 gene are known to lead to autosomal dominant non-syndromic hereditary hearing loss, DFNA10. To date, 30 variants have been shown to be responsible for hearing loss in a diverse set of nationalities. To better understand the clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6882427eeb9f5eb4fd13ff316c8376cc
http://europepmc.org/articles/PMC7046659
http://europepmc.org/articles/PMC7046659
Autor:
Reiko, Kishikawa, Eiko, Koto, Chie, Oshikawa, Nobuo, So, Terufumi, Shimoda, Akemi, Saito, Norio, Sahashi, Tadao, Enomoto, Atsushi, Usami, Hidetoyo, Teranishi, Yohko, Fujisaki, Toshitaka, Yokoyama, Kohji, Murayama, Satoshi, Honjo, Yuma, Fukutomi, Tohru, Imai, Masami, Taniguchi, Makoto, Yoshida, Tomoaki, Iwanaga
Publikováno v:
Arerugi = [Allergy]. 68(10)
In 1986, the Ministry of Health and Welfare started an airborne pollen survey as part of measures against JC pollinosis. We reported the important tree pollen antigens in 2016. We have now estimated the longitudinal investigated results for successfu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a79ecc8debe273da2ce92c2275656128
https://pubmed.ncbi.nlm.nih.gov/31827031
https://pubmed.ncbi.nlm.nih.gov/31827031
Autor:
Shinichiro Oka, Shin-ichi Usami, Chie Oshikawa, Mayuri Okami, Shin Ichi Goto, Satoshi Iwasaki, Naoko Sakuma, Yohei Honkura, Karuna Maekawa, Yumiko Kobayashi, Masayuki Shirakura, Hajime Sano, Yukihiko Kanda, Satoko Abe, Shin-ya Nishio, Natsumi Uehara
Publikováno v:
Genes, Vol 10, Iss 10, p 735 (2019)
Genes
Volume 10
Issue 10
Genes
Volume 10
Issue 10
Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f44594faf1007e168b5279391e89171f
https://www.mdpi.com/2073-4425/10/10/735
https://www.mdpi.com/2073-4425/10/10/735
Autor:
Yasushi Naito, Hiroaki Sato, Hideaki Moteki, Yumiko Kobayashi, Tomoo Watanabe, Shin-ya Nishio, Maiko Miyagawa, Shin-ichi Usami, Chie Oshikawa, Mitsuru Hattori
Publikováno v:
Annals of Otology, Rhinology & Laryngology. 124:158S-168S
Objectives: Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population. Methods: Genetic analysis of 63 previously r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06fe5b9022b0ebfb102b11f01bd491f7
https://doi.org/10.1177/0003489415575058
https://doi.org/10.1177/0003489415575058
Publikováno v:
Annals of Otology, Rhinology & Laryngology. 124:94S-99S
Objective: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. Methods: Genetic analysis using massively parallel DNA sequencing (MPS) was c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a646cf356517b9900f4d66dfe7ac09f
https://doi.org/10.1177/0003489415574069
https://doi.org/10.1177/0003489415574069
Autor:
Tetsuya Tono, Haruo Takahashi, Kenji Ohyama, Maiko Miyagawa, Hideaki Moteki, Taro Fujikawa, Yuki Nagano, Shin-ichi Usami, Shinya Morita, Kotaro Ishikawa, Hirofumi Sakaguchi, Yoshihiro Noguchi, Yasushi Naito, Akiko Sugaya, Masafumi Kobayashi, Masahiro Takahashi, Yukihiko Kanda, Shin-ya Nishio, Ikuyo Miyanohara, Chie Oshikawa, Chiharu Kihara
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193359 (2018)
PLoS ONE
PLoS ONE
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::938e76342d9c2b50ecd4c6678b48d057
http://europepmc.org/articles/PMC5846739?pdf=render
http://europepmc.org/articles/PMC5846739?pdf=render