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Nana Sakakibara
Researcher at Kobe University
Publications - 53
Citations - 505
Nana Sakakibara is an academic researcher from Kobe University. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 8, co-authored 39 publications receiving 211 citations.
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Journal ArticleDOI
Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.
Tomohiko Yamamura,Tomoko Horinouchi,China Nagano,Takashi Omori,Nana Sakakibara,Yuya Aoto,Shinya Ishiko,Koichi Nakanishi,Yuko Shima,Hiroaki Nagase,Hiroki Takeda,Rini Rossanti,Ming Juan Ye,Yoshimi Nozu,Shingo Ishimori,Takeshi Ninchoji,Hiroshi Kaito,Naoya Morisada,Kazumoto Iijima,Kandai Nozu +19 more
TL;DR: A strong genotype-phenotype correlation was confirmed in patients with male X-linked Alport syndrome as it was suggested that renin-angiotensin inhibitors could significantly delay ESKD progression.
Journal ArticleDOI
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
Tomohiko Yamamura,Tomoko Horinouchi,Tomomi Adachi,Maki Terakawa,Yutaka Takaoka,Kohei Omachi,Minoru Takasato,Kiyosumi Takaishi,Takao Shoji,Yoshiyuki Onishi,Yoshito Kanazawa,Makoto Koizumi,Yasuko Tomono,Aki Sugano,Akemi Shono,Shogo Minamikawa,China Nagano,Nana Sakakibara,Shinya Ishiko,Yuya Aoto,Misato Kamura,Yutaka Harita,Kenichiro Miura,Shoichiro Kanda,Naoya Morisada,Rini Rossanti,Ming Juan Ye,Yoshimi Nozu,Masafumi Matsuo,Hirofumi Kai,Kazumoto Iijima,Kandai Nozu +31 more
TL;DR: It is shown that exon skipping enabled trimer formation, leading to remarkable clinical and pathological improvements including expression of the α5 chain on glomerular and the tubular basement membrane, which suggests thatExon skipping may represent a promising therapeutic approach for treating severe male XLAS cases.
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Comprehensive genetic diagnosis of Japanese patients with severe proteinuria
China Nagano,Tomohiko Yamamura,Tomoko Horinouchi,Yuya Aoto,Shinya Ishiko,Nana Sakakibara,Yuko Shima,Koichi Nakanishi,Hiroaki Nagase,Kazumoto Iijima,Kandai Nozu +10 more
TL;DR: With various immunosuppressive or renoprotective therapies, remission of proteinuria in patients with unknown causative mutations was observed in 26% of patients, whereas only 5% of Patients with monogenic disease-causing mutations exhibited complete remission.
Journal ArticleDOI
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.
Journal ArticleDOI
Congenital Cytomegalovirus Infection in Children with Autism Spectrum Disorder: Systematic Review and Meta-Analysis
Kaori Maeyama,Kazumi Tomioka,Hiroaki Nagase,Mieko Yoshioka,Yasuko Takagi,Takeshi Kato,Masami Mizobuchi,Shinji Kitayama,Satoshi Takada,Masashi Nagai,Nana Sakakibara,Masahiro Nishiyama,Mariko Taniguchi-Ikeda,Ichiro Morioka,Kazumoto Iijima,Noriyuki Nishimura +15 more
TL;DR: Although a high prevalence of congenital CMV infection in ASD cases was indicated, too few events (0–2 events) in all included studies imposed serious limitations, there is urgent need for further studies to clarify this issue.