Zobrazeno 1 - 10
of 196
pro vyhledávání: '"Shin-ya Nishio"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract To investigate the association between hereditary hearing loss and vestibular function, we compared vestibular function and symptoms among patients with GJB2, SLC26A4, and CDH23 variants. Thirty-nine patients with sensory neural hearing loss
Externí odkaz:
https://doaj.org/article/1b651f939f6347afa5228656a084c32e
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-19 (2024)
Abstract The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2). However, the prevalence
Externí odkaz:
https://doaj.org/article/11434a0f98a946f09cb5d69b659ecfa3
Autor:
Daisuke Arai, Mikako Takahashi-Shibata, Takao Ukaji, Harumi Tsutsumi, Shori Tajima, Shin-ya Nishio, Kei-ichi Ishikawa, Wado Akamatsu, Fumihiko Matsumoto, Katsuhisa Ikeda, Shin-ichi Usami, Kazusaku Kamiya
Publikováno v:
Stem Cell Research, Vol 79, Iss , Pp 103471- (2024)
Cadherin 23 (CDH23) is one of the most common genes responsible for hereditary hearing loss; a mutation of CDH23 can cause a wide range of symptoms depending on the variant. In this study, an iPSC line was generated from a patient with late-onset, pr
Externí odkaz:
https://doaj.org/article/10553afe703f4cb898b9b6f4dda62ffe
Autor:
Ikuyo Miyanohara, Junichiro Ohori, Minako Tabuchi, Shin-ya Nishio, Masaru Yamashita, Shin-ichi Usami
Publikováno v:
Genes, Vol 15, Iss 5, p 571 (2024)
Hearing loss (HL) is a common and multi-complex etiological deficit that can occur at any age and can be caused by genetic variants, aging, toxic drugs, noise, injury, viral infection, and other factors. Recently, a high incidence of genetic etiologi
Externí odkaz:
https://doaj.org/article/1e4cb465c3ba4c3dba82590403f5741e
Autor:
Naoko Sakuma, Shin-ya Nishio, Shin-ichi Goto, Yohei Honkura, Kiyoshi Oda, Hidehiko Takeda, Marina Kobayashi, Kozo Kumakawa, Satoshi Iwasaki, Masahiro Takahashi, Taku Ito, Yasuhiro Arai, Yasuhiro Isono, Natsuko Obara, Takeshi Matsunobu, Kimihiro Okubo, Shin-ichi Usami
Publikováno v:
Genes, Vol 15, Iss 4, p 489 (2024)
The PTPRQ gene has been identified as one of the genes responsible for non-syndromic sensorineural hearing loss (SNHL), and assigned as DFNA73 and DFNB84. To date, about 30 causative PTPRQ variants have been reported to cause SNHL. However, the detai
Externí odkaz:
https://doaj.org/article/b0c01e38a5644460a5ff2f20c0e6e309
Autor:
Claudia Steinacher, Dietmar Rieder, Jasmin E. Turner, Nita Solanky, Shin-ya Nishio, Shin-ichi Usami, Barbara Hausott, Anneliese Schrott-Fischer, Jozsef Dudas
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2907 (2024)
A comprehensive gene expression investigation requires high-quality RNA extraction, in sufficient amounts for real-time quantitative polymerase chain reaction and next-generation sequencing. In this work, we compared different RNA extraction methods
Externí odkaz:
https://doaj.org/article/57c276aa22f7452c83f1313a4add9f3e
Autor:
Shin-ya Nishio, Shin-ichi Usami
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract The STRC gene, located on chromosome 15q15.3, is one of the genetic causes of autosomal recessive mild-to-moderate sensorineural hearing loss. One of the unique characteristics of STRC-associated hearing loss is the high prevalence of long d
Externí odkaz:
https://doaj.org/article/124730e6fa994476802e4dc51d259efb
Autor:
Masayuki Kawakita, Satoshi Iwasaki, Hideaki Moteki, Shin-ya Nishio, Tomoki Kosho, Shin-ichi Usami
Publikováno v:
Genes, Vol 14, Iss 7, p 1350 (2023)
Musculocontractural Ehlers–Danlos syndrome (EDS) caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. A recent international collabor
Externí odkaz:
https://doaj.org/article/63ae3bfe400d4ac98556f02f9ff18ffe
Publikováno v:
Laryngoscope Investigative Otolaryngology, Vol 6, Iss 5, Pp 958-967 (2021)
Abstract A number of genes are reportedly responsible for hereditary hearing loss, which accounts for over 50% of all congenital hearing loss cases. Recent advances in genetic testing have enabled the identification of pathogenic variants in many cas
Externí odkaz:
https://doaj.org/article/bc9b5aafe7d04f828957e1b33487a77c
Autor:
Mengnan Li, Shin-ya Nishio, Chie Naruse, Meghan Riddell, Sabrina Sapski, Tatsuya Katsuno, Takao Hikita, Fatemeh Mizapourshafiyi, Fiona M. Smith, Leanne T. Cooper, Min Goo Lee, Masahide Asano, Thomas Boettger, Marcus Krueger, Astrid Wietelmann, Johannes Graumann, Bryan W. Day, Andrew W. Boyd, Stefan Offermanns, Shin-ichiro Kitajiri, Shin-ichi Usami, Masanori Nakayama
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations. Here the authors identify EPHA2 as another causativ
Externí odkaz:
https://doaj.org/article/2394b397faac4471be86a22fa110d8db