J
Junya Fujimura
Researcher at Kobe University
Publications - 23
Citations - 266
Junya Fujimura is an academic researcher from Kobe University. The author has contributed to research in topics: RNA splicing & Minigene. The author has an hindex of 8, co-authored 23 publications receiving 163 citations.
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Journal ArticleDOI
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome
Tomoko Horinouchi,Kandai Nozu,Tomohiko Yamamura,Shogo Minamikawa,Takashi Omori,Keita Nakanishi,Junya Fujimura,Akira Ashida,Mineaki Kitamura,Mitsuhiro Kawano,Wataru Shimabukuro,Chizuko Kitabayashi,Aya Imafuku,Keiichi Tamagaki,Koichi Kamei,Kenjirou Okamoto,Shuichiro Fujinaga,Masafumi Oka,Toru Igarashi,Akinori Miyazono,Emi Sawanobori,Rika Fujimaru,Koichi Nakanishi,Yuko Shima,Masafumi Matsuo,Ming Juan Ye,Yoshimi Nozu,Naoya Morisada,Hiroshi Kaito,Kazumoto Iijima +29 more
TL;DR: Unpredictable atypical splicing in the COL4A5 gene in male patients with XLAS is reported and renal prognosis differs significantly for patients with truncating versus nontruncating splicing abnormalities, suggesting that splicing modulation should be explored as a therapy for XLAS with truncation mutations.
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Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
Junya Fujimura,Kandai Nozu,Tomohiko Yamamura,Shogo Minamikawa,Keita Nakanishi,Tomoko Horinouchi,China Nagano,Nana Sakakibara,Koichi Nakanishi,Yuko Shima,Kenichi Miyako,Yoshimi Nozu,Naoya Morisada,Hiroaki Nagase,Takeshi Ninchoji,Hiroshi Kaito,Kazumoto Iijima +16 more
TL;DR: Clinical characteristics and genotype–phenotype correlation in genetically proven GS cases with homozygous or compound heterozygous variants in SLC12A3 are revealed for the first time, including prevalence of complications.
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Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.
China Nagano,Kandai Nozu,Naoya Morisada,Masahiko Yazawa,Daisuke Ichikawa,Keita Numasawa,Hiroyo Kourakata,Chieko Matsumura,Satoshi Tazoe,Ryojiro Tanaka,Tomohiko Yamamura,Shogo Minamikawa,Tomoko Horinouchi,Keita Nakanishi,Junya Fujimura,Nana Sakakibara,Yoshimi Nozu,Ming Juan Ye,Hiroshi Kaito,Kazumoto Iijima +19 more
TL;DR: The NGS-based CNV detection method is useful for comprehensive screening of CNVs, and the results revealed that, for a certain proportion of cases, CNV analysis is necessary for accurate genetic diagnosis.
Journal ArticleDOI
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome
Natsuki Matsunoshita,Kandai Nozu,Masahide Yoshikane,Azusa Kawaguchi,Naoya Fujita,Naoya Morisada,Shingo Ishimori,Tomohiko Yamamura,Shogo Minamikawa,Tomoko Horinouchi,Keita Nakanishi,Junya Fujimura,Takeshi Ninchoji,Ichiro Morioka,Hiroaki Nagase,Mariko Taniguchi-Ikeda,Hiroshi Kaito,Kazumoto Iijima +17 more
TL;DR: Target sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p/s/GS with alternative genetic origins.
Journal ArticleDOI
Cryptic exon activation in SLC12A3 in Gitelman syndrome
Kandai Nozu,Yoshimi Nozu,Keita Nakanishi,Takao Konomoto,Tomoko Horinouchi,Akemi Shono,Naoya Morisada,Shogo Minamikawa,Tomohiko Yamamura,Junya Fujimura,Koichi Nakanishi,Takeshi Ninchoji,Hiroshi Kaito,Ichiro Morioka,Mariko Taniguchi-Ikeda,Igor Vorechovsky,Kazumoto Iijima +16 more
TL;DR: The power of next-generation sequencing to identify causal mutations in intronic regions in asymptomatic individuals at risk of developing potentially fatal disease complications is illustrated, improving clinical management of these cases.