Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Kana Hosoki"'
Autor:
Masanori Fujimoto, Yuji Nakamura, Kana Hosoki, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Ayako Hattori, Hideaki Shiraishi, Shinji Saitoh
Publikováno v:
HGG Advances, Vol 5, Iss 4, Pp 100342- (2024)
Summary: Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function of maternal UBE3A. The major cause of AS is a maternal deletion in 15q11.2-q13, and the minor causes are a UBE3A mutation, uniparental disomy (UPD)
Externí odkaz:
https://doaj.org/article/6a1cd99501b64c9ea6920a3c140d3c99
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disorder affecting motor neurons, and is currently the most frequent genetic cause of infant mortality. SMA is caused by a loss-of-function mutation in the survival motor neuron 1 (SMN1
Externí odkaz:
https://doaj.org/article/fe21411861714e70b228c74f8aefdfe3
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
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reports
Scientific Reports
Spinal muscular atrophy (SMA) is an autosomal recessive disorder affecting motor neurons, and is currently the most frequent genetic cause of infant mortality. SMA is caused by a loss-of-function mutation in the survival motor neuron 1 (SMN1) gene. S
Autor:
Diwei Ho, Amanda J. Blythe, Geraldine Kong, Tetsuro Hirose, Agata Sadowska, K. Swaminathan Iyer, Laura Trinkle-Mulcahy, Gavin J. Knott, Estella A. Newcombe, Taro Mannen, Naoki Goshima, Tetsuya Kawaguchi, Simon Kobelke, Danny M. Hatters, Charles S. Bond, Kana Hosoki, Sven Hennig, Archa H. Fox
Publikováno v:
The Journal of Cell Biology
Prion-like domains (PLDs) are low complexity sequences found in RNA binding proteins associated with the neurodegenerative disorder amyotrophic lateral sclerosis. Recently, PLDs have been implicated in mediating gene regulation via liquid-phase trans
Publikováno v:
Journal of human genetics. 63(3)
Oligonucleotide-mediated splicing modulation is a promising therapeutic approach for Duchenne muscular dystrophy (DMD). Recently, eteplirsen, a phosphorodiamidate morpholino oligomer-based splice-switching oligonucleotide (SSO) targeting DMD exon 51,
Autor:
Masashi Shiomi, Kana Hosoki, Satsuki Nishigaki, Norio Niikawa, Shinji Saitoh, Keinosuke Fujita, Tohru Ohta
Publikováno v:
Pediatrics International. 54:e22-e25
Publikováno v:
The Journal of Laryngology & Otology. 125:1282-1285
Objective:We present a patient with mitochondrial hearing loss and a novel mitochondrial DNA transition, who underwent successful cochlear implantation.Case report:An 11-year-old girl showed epilepsy and progressive hearing loss. Despite the use of h
Autor:
Kana Hosoki, Keisuke Nagasaki, Shinji Saitoh, Yu Kobayashi, Toshiyuki Yamamoto, Jun Tohyama, Noriyuki Akasaka, Tsukasa Ohashi
Publikováno v:
American Journal of Medical Genetics Part A. 155:2584-2588
FOXG1 on chromosome 14 has recently been suggested as a dosage-sensitive gene. Duplication of this gene could cause severe epilepsy and developmental delay, including infantile spasms. Here, we report on a female patient diagnosed with maternal unipa
Autor:
Kayoko Saito, Hiroshi Kanazawa, Yu-ichi Goto, Yumi Takahashi, Shinji Saitoh, Kana Hosoki, Makoto Funatsuka, Masafumi Matsushita
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 156:799-807
SLC9A6 mutations have been reported in families in whom X-linked mental retardation (XMR) mimics Angelman syndrome (AS). However, the relative importance of SLC9A6 mutations in patients with an AS-like phenotype or XMR has not been fully investigated