Publications by authors named "Kiyomitsu Nara"

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Clinical features of hearing loss and genotype-phenotype correlations in Alport syndrome caused by COL4A4 or COL4A5 variants.
Saeko Matsuzaki, Kiyomitsu Nara, Hideki Mutai, Sayaka Katsunuma, Hirokazu Sakamoto

Sci Rep· December 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Kiyomitsu Nara

Genet Med· October 2025

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Auditory neuropathy spectrum disorder and related auditory features in patients with hearing loss associated with the MT-TS1 m.7471dup variant.
Shujiro Minami, Amina Kida, Satomi Inoue, Haruka Murakami, Noriko Morita, Kiyomitsu Nara

Mitochondrion· September 2025

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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.
Kezang C Tshering, Marina T DiStefano, Andrea M Oza, Pamela Ajuyah, Ryan Webb, Kiyomitsu Nara

Genet Med· May 2025

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Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Hideki Mutai, Fuyuki Miya, Kiyomitsu Nara, Nobuko Yamamoto, Satomi Inoue

Hum Genet· January 2025

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Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.
Marie N Shimanuki, Makoto Hosoya, Takanori Nishiyama, Takeshi Wakabayashi, Masafumi Ueno, Kiyomitsu Nara

Auris Nasus Larynx· December 2024

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Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma.
Kosuke Hashimoto, Toru Miwa, Chie Ono, Kiyomitsu Nara, Hideki Mutai

Cureus· February 2024

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Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Naoki Oishi, Masaru Noguchi, Masato Fujioka, Kiyomitsu Nara, Koichiro Wasano

Sci Rep· April 2023

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

Orphanet J Rare Dis· March 2022

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Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.
Atsuko Nakano, Yukiko Arimoto, Hideki Mutai, Kiyomitsu Nara, Satomi Inoue

Int J Pediatr Otorhinolaryngol· January 2022

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Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome.
Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada

Sci Rep· January 2022

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Mayher J Patel, Marina T DiStefano, Andrea M Oza, Madeline Y Hughes, Emma H Wilcox, Kiyomitsu Nara

Genet Med· November 2021

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Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.
Makoto Hosoya, Masato Fujioka, Kiyomitsu Nara, Noriko Morimoto, Sawako Masuda

Int J Pediatr Otorhinolaryngol· October 2021

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Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations.
Masato Fujioka, Makoto Hosoya, Kiyomitsu Nara, Noriko Morimoto, Hirokazu Sakamoto

Auris Nasus Larynx· December 2020

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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
Hideki Mutai, Koichiro Wasano, Yukihide Momozawa, Yoichiro Kamatani, Fuyuki Miya, Kiyomitsu Nara

PLoS Genet· April 2020

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A clinical and genetic study of 16 Japanese families with Waardenburg syndrome.
Shujiro B Minami, Kiyomitsu Nara, Hideki Mutai, Noriko Morimoto, Hirokazu Sakamoto

Gene· July 2019

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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Kiyomitsu Nara

Hum Mutat· November 2018

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The first sporadic case of DFNA11 identified by next-generation sequencing.
Yuka Kaneko, Atsuko Nakano, Yukiko Arimoto, Kiyomitsu Nara, Hideki Mutai

Int J Pediatr Otorhinolaryngol· September 2017

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Lectin-dependent inhibition of antigen-antibody reaction: application for measuring α2,6-sialylated glycoforms of transferrin.
Kyoka Hoshi, Yoshinobu Kariya, Kiyomitsu Nara, Hiromi Ito, Kana Matsumoto

J Biochem· September 2013

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A unique N-glycan on human transferrin in CSF: a possible biomarker for iNPH.
Satoshi Futakawa, Kiyomitsu Nara, Masakazu Miyajima, Atsushi Kuno, Hiromi Ito

Neurobiol Aging· August 2012

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High Throughput ELISAs to Measure a Unique Glycan on Transferrin in Cerebrospinal Fluid: A Possible Extension toward Alzheimer's Disease Biomarker Development.
Keiro Shirotani, Satoshi Futakawa, Kiyomitsu Nara, Kyoka Hoshi, Toshie Saito

Int J Alzheimers Dis· November 2011

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['Glyco'-protein in cerebrospinal fluid as a diagnostic marker for dementia].
Satoshi Futakawa, Kiyomitsu Nara, Keiro Shirotani, Yasuhiro Hashimoto, Takashi Honda

Nihon Rinsho· October 2011

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A large-scale analysis of odor coding in the olfactory epithelium.
Kiyomitsu Nara, Luis R Saraiva, Xiaolan Ye, Linda B Buck

J Neurosci· June 2011

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Inhibition of ganglioside synthesis reduces the neuronal survival activity of astrocytes.
Yuko Akasako, Kiyomitsu Nara, Yoshitaka Nagai, Yasuhiro Hashimoto

Neurosci Lett· January 2011

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[Glycan biomaker in CSF].
Yasuhiro Hashimoto, Satoshi Futakawa, Masakazu Miyajima, Shinobu Kitazume, Kiyomitsu Nara

Rinsho Shinkeigaku· November 2010

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