Search Results - "MATSUNAGA, Tatsuo"

Clinical genetics, practice, and research of deafblindness: From uncollected experiences to the national registry in Japan by Matsunaga, Tatsuo

“…Deafblindness is a condition of combined vision and hearing loss that is extremely rare in children and young adults, as well as being a highly heterogeneous…”
Get full text

Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss by Namba, Kazunori, Mutai, Hideki, Matsunaga, Tatsuo, Kaneko, Hiroki

“…The crystal structure of the six protomers of gap junction protein beta 2 (GJB2) enables prediction of the effect(s) of an amino acid substitution, thereby…”
Get full text

Single nucleotide polymorphisms in tinnitus patients exhibiting severe distress by Watabe, Takahisa, Kanzaki, Sho, Sato, Noriko, Matsunaga, Tatsuo, Muramatsu, Masaaki, Ogawa, Kaoru

“…The association between distress caused by tinnitus and psychological factors such as depression and anxiety has been examined and reported. However,…”
Get full text

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans by 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

“…Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the causative genes. Further, some genes involved in hereditary hearing loss…”
Get full text

Apoptosis of type I spiral ganglion neuron cells in Otof-mutant mice by Tsuzuki, Nobuyoshi, Namba, Kazunori, Saegusa, Chika, Mutai, Hideki, Nishiyama, Takanori, Oishi, Naoki, Matsunaga, Tatsuo, Fujioka, Masato, Ozawa, Hiroyuki

“…•Otoftm1a/tm1a mice showed a reduction in spiral ganglion neurons (SGNs).•The reduction in SGNs was accompanied by apoptosis of type Ⅰ SGNs.•Otoftm1a/tm1a mice…”
Get full text

Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome by 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

“…Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not satisfy the diagnostic criteria, despite carrying a pathogenic variant…”
Get full text

Generation of an induced pluripotent stem cell line (KEIUi008-A) from a hearing loss patient with an A1555G mutation in mitochondrial DNA by Masano, Yusuke, Saegusa, Chika, Ishikawa, Mitsuru, Matsunaga, Tatsuo, Okano, Hideyuki, Fujioka, Masato

“…We report the establishment of a human induced pluripotent stem cell (iPSC) line from a 54-year-old male patient with an A1555G mutation in the mitochondrial…”
Get full text

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants by Wasano, Koichiro, Takahashi, Satoe, Rosenberg, Samuel K., Kojima, Takashi, Mutai, Hideki, Matsunaga, Tatsuo, Ogawa, Kaoru, Homma, Kazuaki

“…Thanks to the advent of rapid DNA sequencing technology and its prevalence, many disease‐associated genetic variants are rapidly identified in many genes from…”
Get full text

Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea by 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.

“…Cochlear melanocytes are intermediate cells in the stria vascularis that generate endocochlear potentials required for auditory function. Human PAX3 mutations…”
Get full text

Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis by Yamamoto, Nobuko, Mutai, Hideki, Namba, Kazunori, Goto, Fumiyuki, Ogawa, Kaoru, Matsunaga, Tatsuo

“…HYPOTHESIS:The phenotype of DFNA11 consists of specific features at diverse developmental and age stages. BACKGROUND:Only eight mutations have been identified…”
Get full text

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes by Mutai, Hideki, Momozawa, Yukihide, Kamatani, Yoichiro, Nakano, Atsuko, Sakamoto, Hirokazu, Takiguchi, Tetsuya, Nara, Kiyomitsu, Kubo, Michiaki, Matsunaga, Tatsuo

“…Heterogeneous genetic loci contribute to hereditary hearing loss; more than 100 deafness genes have been identified, and the number is increasing. To detect…”
Get full text

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis by 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

“…NF2 -related schwannomatosis (NF2) is an autosomal dominant genetic disorder caused by variants in the NF2 gene. Approximately 50% of NF2 patients inherit…”
Get full text

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study by Mutai, Hideki, Suzuki, Naohiro, Shimizu, Atsushi, Torii, Chiharu, Namba, Kazunori, Morimoto, Noriko, Kudoh, Jun, Kaga, Kimitaka, Kosaki, Kenjiro, Matsunaga, Tatsuo

“…Genetic tests for hereditary hearing loss inform clinical management of patients and can provide the first step in the development of therapeutics. However,…”
Get full text

Cochlear Cell Modeling Using Disease-Specific iPSCs Unveils a Degenerative Phenotype and Suggests Treatments for Congenital Progressive Hearing Loss by Hosoya, Makoto, Fujioka, Masato, Sone, Takefumi, Okamoto, Satoshi, Akamatsu, Wado, Ukai, Hideki, Ueda, Hiroki R., Ogawa, Kaoru, Matsunaga, Tatsuo, Okano, Hideyuki

“…Hearing impairments are the most common symptom of congenital defects, and they generally remain intractable to treatment. Pendred syndrome, the most frequent…”
Get full text

Mitochondrial mutations in maternally inherited hearing loss by Mutai, Hideki, Watabe, Takahisa, Kosaki, Kenjiro, Ogawa, Kaoru, Matsunaga, Tatsuo

“…Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL),…”
Get full text

Value of Genetic Testing in the Otological Approach for Sensorineural Hearing Loss by Matsunaga, Tatsuo

“…Sensorineural hearing loss (SNHL) is one of the most common disabilities in human, and genetics is an important aspect for SNHL, especially in children. In…”
Get full text

Elongated EABR wave latencies observed in patients with auditory neuropathy caused by OTOF mutation by Hosoya, Makoto, Minami, Shujiro B., Enomoto, Chieko, Matsunaga, Tatsuo, Kaga, Kimitaka

“…Objectives We sought to determine how the pathology altered electrically evoked auditory brainstem responses (EABRs) in patients with hearing loss by…”
Get full text

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 by Saegusa, Chika, Mutai, Hideki, Saeki, Tsubasa, Matsuzaki, Saeko, Mizukoshi, Akifumi, Kitajiri, Shin-ichiro, Matsunaga, Tatsuo, Hosoya, Makoto, Okano, Hideyuki, Fujioka, Masato

“…Disease-related cells differentiated from patient-derived iPSCs are useful for elucidating the pathophysiological mechanisms underlying these diseases. In this…”
Get full text

Gene expression dataset for whole cochlea of Macaca fascicularis by Mutai, Hideki, Miya, Fuyuki, Shibata, Hiroaki, Yasutomi, Yasuhiro, Tsunoda, Tatsuhiko, Matsunaga, Tatsuo

“…Macaca fascicularis is a highly advantageous model in which to study human cochlea with regard to both evolutionary proximity and physiological similarity of…”
Get full text

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 by Suzuki, Noriomi, Mutai, Hideki, Miya, Fuyuki, Tsunoda, Tatsuhiko, Terashima, Hiroshi, Morimoto, Noriko, Matsunaga, Tatsuo

“…Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due…”
Get full text