Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss
Namba, Kazunori, Mutai, Hideki, Matsunaga, Tatsuo, Kaneko, Hiroki
Published in BMC research notes (10.05.2024)
Published in BMC research notes (10.05.2024)
Get full text
Journal Article
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans
Mutai, Hideki, Wasano, Koichiro, Momozawa, Yukihide, Kamatani, Yoichiro, Miya, Fuyuki, Masuda, Sawako, Morimoto, Noriko, Nara, Kiyomitsu, Takahashi, Satoe, Tsunoda, Tatsuhiko, Homma, Kazuaki, Kubo, Michiaki, Matsunaga, Tatsuo
Published in PLoS genetics (01.04.2020)
Published in PLoS genetics (01.04.2020)
Get full text
Journal Article
Apoptosis of type I spiral ganglion neuron cells in Otof-mutant mice
Tsuzuki, Nobuyoshi, Namba, Kazunori, Saegusa, Chika, Mutai, Hideki, Nishiyama, Takanori, Oishi, Naoki, Matsunaga, Tatsuo, Fujioka, Masato, Ozawa, Hiroyuki
Published in Neuroscience letters (23.04.2023)
Published in Neuroscience letters (23.04.2023)
Get full text
Journal Article
Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
Masuda, Masatsugu, Kanno, Ayako, Nara, Kiyomitsu, Mutai, Hideki, Morisada, Naoya, Iijima, Kazumoto, Morimoto, Noriko, Nakano, Atsuko, Sugiuchi, Tomoko, Okamoto, Yasuhide, Masuda, Sawako, Katsunuma, Sayaka, Ogawa, Kaoru, Matsunaga, Tatsuo
Published in Scientific reports (19.01.2022)
Published in Scientific reports (19.01.2022)
Get full text
Journal Article
Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants
Wasano, Koichiro, Takahashi, Satoe, Rosenberg, Samuel K., Kojima, Takashi, Mutai, Hideki, Matsunaga, Tatsuo, Ogawa, Kaoru, Homma, Kazuaki
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
Get full text
Journal Article
Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea
Udagawa, Tomokatsu, Takahashi, Erisa, Tatsumi, Norifumi, Mutai, Hideki, Saijo, Hiroki, Kondo, Yuko, Atkinson, Patrick J., Matsunaga, Tatsuo, Yoshikawa, Mamoru, Kojima, Hiromi, Okabe, Masataka, Cheng, Alan G.
Published in Scientific reports (26.01.2024)
Published in Scientific reports (26.01.2024)
Get full text
Journal Article
Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis
Yamamoto, Nobuko, Mutai, Hideki, Namba, Kazunori, Goto, Fumiyuki, Ogawa, Kaoru, Matsunaga, Tatsuo
Published in Otology & neurotology (01.07.2020)
Published in Otology & neurotology (01.07.2020)
Get more information
Journal Article
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes
Mutai, Hideki, Momozawa, Yukihide, Kamatani, Yoichiro, Nakano, Atsuko, Sakamoto, Hirokazu, Takiguchi, Tetsuya, Nara, Kiyomitsu, Kubo, Michiaki, Matsunaga, Tatsuo
Published in Orphanet journal of rare diseases (05.03.2022)
Published in Orphanet journal of rare diseases (05.03.2022)
Get full text
Journal Article
Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis
Oishi, Naoki, Noguchi, Masaru, Fujioka, Masato, Nara, Kiyomitsu, Wasano, Koichiro, Mutai, Hideki, Kawakita, Rie, Tamura, Ryota, Karatsu, Kosuke, Morimoto, Yukina, Toda, Masahiro, Ozawa, Hiroyuki, Matsunaga, Tatsuo
Published in Scientific reports (22.04.2023)
Published in Scientific reports (22.04.2023)
Get full text
Journal Article
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study
Mutai, Hideki, Suzuki, Naohiro, Shimizu, Atsushi, Torii, Chiharu, Namba, Kazunori, Morimoto, Noriko, Kudoh, Jun, Kaga, Kimitaka, Kosaki, Kenjiro, Matsunaga, Tatsuo
Published in Orphanet journal of rare diseases (28.10.2013)
Published in Orphanet journal of rare diseases (28.10.2013)
Get full text
Journal Article
Mitochondrial mutations in maternally inherited hearing loss
Mutai, Hideki, Watabe, Takahisa, Kosaki, Kenjiro, Ogawa, Kaoru, Matsunaga, Tatsuo
Published in BMC medical genetics (20.03.2017)
Published in BMC medical genetics (20.03.2017)
Get full text
Journal Article
Generation of four induced pluripotent stem cell lines (KEIUi004-A, KEIUi005-A, KEIUi006-A, and KEIUi007-A) from patients with sensorineural hearing loss with mutation in EYA4 gene
Saegusa, Chika, Mutai, Hideki, Saeki, Tsubasa, Matsuzaki, Saeko, Mizukoshi, Akifumi, Kitajiri, Shin-ichiro, Matsunaga, Tatsuo, Hosoya, Makoto, Okano, Hideyuki, Fujioka, Masato
Published in Stem cell research (01.09.2024)
Published in Stem cell research (01.09.2024)
Get full text
Journal Article
Gene expression dataset for whole cochlea of Macaca fascicularis
Mutai, Hideki, Miya, Fuyuki, Shibata, Hiroaki, Yasutomi, Yasuhiro, Tsunoda, Tatsuhiko, Matsunaga, Tatsuo
Published in Scientific reports (22.10.2018)
Published in Scientific reports (22.10.2018)
Get full text
Journal Article
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10
Suzuki, Noriomi, Mutai, Hideki, Miya, Fuyuki, Tsunoda, Tatsuhiko, Terashima, Hiroshi, Morimoto, Noriko, Matsunaga, Tatsuo
Published in BMC pediatrics (23.05.2018)
Published in BMC pediatrics (23.05.2018)
Get full text
Journal Article
Attenuation of progressive hearing loss in DBA/2J mice by reagents that affect epigenetic modifications is associated with up-regulation of the zinc importer Zip4
Mutai, Hideki, Miya, Fuyuki, Fujii, Masato, Tsunoda, Tatsuhiko, Matsunaga, Tatsuo
Published in PloS one (14.04.2015)
Published in PloS one (14.04.2015)
Get full text
Journal Article
Frequency and specific characteristics of the incomplete partition type III anomaly in children
Kanno, Ayako, Mutai, Hideki, Namba, Kazunori, Morita, Noriko, Nakano, Atsuko, Ogahara, Noboru, Sugiuchi, Tomoko, Ogawa, Kaoru, Matsunaga, Tatsuo
Published in The Laryngoscope (01.07.2017)
Published in The Laryngoscope (01.07.2017)
Get more information
Journal Article
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss
Masuda, Sawako, Namba, Kazunori, Mutai, Hideki, Usui, Satoko, Miyanaga, Yuko, Kaneko, Hiroki, Matsunaga, Tatsuo
Published in Biochemical and biophysical research communications (09.05.2014)
Published in Biochemical and biophysical research communications (09.05.2014)
Get full text
Journal Article
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1
Morimoto, Noriko, Mutai, Hideki, Namba, Kazunori, Kaneko, Hiroki, Kosaki, Rika, Matsunaga, Tatsuo
Published in Auris, nasus, larynx (01.04.2018)
Published in Auris, nasus, larynx (01.04.2018)
Get full text
Journal Article
Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss
Yamamoto, Nobuko, Mutai, Hideki, Namba, Kazunori, Morita, Noriko, Masuda, Shin, Nishi, Yasuyuki, Nakano, Atsuko, Masuda, Sawako, Fujioka, Masato, Kaga, Kimitaka, Ogawa, Kaoru, Matsunaga, Tatsuo
Published in Orphanet journal of rare diseases (25.09.2017)
Published in Orphanet journal of rare diseases (25.09.2017)
Get full text
Journal Article