髙野 亨子 (タカノ キョウコ)
学術研究院（医学系）
医学部 医学科 遺伝医学
准教授
研究者情報
研究活動情報
論文
- Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.
Tetsuhiro Fukuyama; Masaru Nasuno; Manami Yabe; Makoto Nishioka; Yumi Hoshino; Takenori Natsume; Kohei Kanaya; Kyoko Takano; Tomoki Kaneko; Yushi Inoue
Epilepsia open, 11(3), 871-882, 2026年06月
- Ineffectiveness of creatine, glycine, and arginine supplementation in a female with creatine transporter deficiency: A case report
Mayuka Tsuchida; Kyoko Takano; Masaru Nasuno; Manami Yabe; Makoto Nishioka; Takenori Natsume; Tomoki Kaneko; Tetsuhiro Fukuyama
Brain and Development Case Reports, 3(3), 100082-100082, 2025年09月 - Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.
Noriko Kubota; Ryojun Takeda; Jun Kobayashi; Eiko Hidaka; Eriko Nishi; Kyoko Takano; Keiko Wakui
Molecular syndromology, 14(5), 394-404, 2023年10月 - Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Tomomi Yamaguchi; Shujiro Hayashi; Daisuke Hayashi; Takeshi Matsuyama; Norimichi Koitabashi; Kenichi Ogiwara; Masaaki Noda; Chiai Nakada; Shinya Fujiki; Akira Furutachi; Yasuhiko Tanabe; Michiko Yamanaka; Aki Ishikawa; Miyako Mizukami; Asako Mizuguchi; Kazumitsu Sugiura; Makoto Sumi; Hirokuni Yamazawa; Atsushi Izawa; Yuko Wada; Tomomi Fujikawa; Yuri Takiguchi; Keiko Wakui; Kyoko Takano; Shin-Ya Nishio; Tomoki Kosho
American journal of medical genetics. Part A, 191(1), 37-51, 2023年01月 - Characteristics of an advanced epilepsy treatment gap in a region in Japan.
Tetsuhiro Fukuyama; Manami Yabe; Makoto Nishioka; Takenori Natsume; Yuumi Hoshino; Kohei Kanaya; Kyoko Takano; Norimoto Kobayashi; Yushi Inoue
Epilepsy & behavior reports, 24, 100628-100628, 2023年 - A nationwide survey of Schaaf-Yang syndrome in Japan.
Yutaka Negishi; Kenji Kurosawa; Kyoko Takano; Keiko Matsubara; Takeshi Nishiyama; Shinji Saitoh
Journal of human genetics, 67(12), 735-738, 2022年12月 - Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.
Yumi Hoshino; Minori Kodaira; Atsuhiro Matsuno; Tomoki Kaneko; Tetsuhiro Fukuyama; Kyoko Takano; Masahide Yazaki; Yoshiki Sekijima
Internal medicine (Tokyo, Japan), 61(4), 553-557, 2022年02月 - Gitelman syndrome with transient renal tubular damage in early childhood.
Megumi Sado; Kyoko Takano; Kenji Kurata; Masashi Kitahara
Pediatrics international : official journal of the Japan Pediatric Society, 63(10), 1256-1258, 2021年10月 - Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Hideyuki Iwayama; Hiroki Kakita; Masumi Iwasa; Shinsuke Adachi; Kyoko Takano; Masahiro Kikuchi; Yasuko Fujisawa; Hitoshi Osaka; Yasumasa Yamada; Akihisa Okumura; Khemraj Hirani; Roy E Weiss; Samuel Refetoff
Thyroid : official journal of the American Thyroid Association, 31(9), 1316-1321, 2021年09月 - Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Hiroaki Hanafusa; Yoshihiko Hidaka; Tomomi Yamaguchi; Hisashi Shimojo; Takanori Tsukahara; Tsubasa Murase; Daisuke Matsuoka; Nao Chiba; Shun Shimada; Hirokazu Morokawa; Norio Omori; Hironori Minoura; China Nagano; Kyoko Takano; Katsuya Nakamura; Keiko Wakui; Yoshimitsu Fukushima; Takeshi Uehara; Yozo Nakazawa; Kazumoto Iijima; Kandai Nozu; Tomoki Kosho
American journal of medical genetics. Part A, 185(7), 2175-2179, 2021年07月 - Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.
Hideyuki Iwayama; Tatsushi Tanaka; Kohei Aoyama; Masaharu Moroto; Shinsuke Adachi; Yasuko Fujisawa; Hiroki Matsuura; Kyoko Takano; Haruo Mizuno; Akihisa Okumura
Frontiers in neurology, 12, 657820-657820, 2021年 - High-amplitude fast activity in EEG: An early diagnostic marker in children with beta-propeller protein-associated neurodegeneration (BPAN).
Hiroyuki Kidokoro; Hiroyuki Yamamoto; Tetsuo Kubota; Mitsuo Motobayashi; Yusaku Miyamoto; Tomohiko Nakata; Kyoko Takano; Naoko Shiba; Yu Okai; Masaharu Tanaka; Yoko Sakaguchi; Yuki Maki; Masahiro Kawaguchi; Takeshi Suzuki; Kazuhiro Muramatsu; Jun Natsume
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 131(9), 2100-2104, 2020年09月 - 知的障害の遺伝学的診断
高野 亨子
信州医学雑誌, 68(4), 183-187, 2020年08月 - Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Erfan Aref-Eshghi; Jennifer Kerkhof; Victor P Pedro; Mouna Barat-Houari; Nathalie Ruiz-Pallares; Jean-Christophe Andrau; Didier Lacombe; Julien Van-Gils; Patricia Fergelot; Christèle Dubourg; Valerie Cormier-Daire; Sophie Rondeau; François Lecoquierre; Pascale Saugier-Veber; Gaël Nicolas; Gaetan Lesca; Nicolas Chatron; Damien Sanlaville; Antonio Vitobello; Laurence Faivre; Christel Thauvin-Robinet; Frederic Laumonnier; Martine Raynaud; Mariëlle Alders; Marcel Mannens; Peter Henneman; Raoul C Hennekam; Guillaume Velasco; Claire Francastel; Damien Ulveling; Andrea Ciolfi; Simone Pizzi; Marco Tartaglia; Solveig Heide; Delphine Héron; Cyril Mignot; Boris Keren; Sandra Whalen; Alexandra Afenjar; Thierry Bienvenu; Philippe M Campeau; Justine Rousseau; Michael A Levy; Lauren Brick; Mariya Kozenko; Tugce B Balci; Victoria Mok Siu; Alan Stuart; Mike Kadour; Jennifer Masters; Kyoko Takano; Tjitske Kleefstra; Nicole de Leeuw; Michael Field; Marie Shaw; Jozef Gecz; Peter J Ainsworth; Hanxin Lin; David I Rodenhiser; Michael J Friez; Matt Tedder; Jennifer A Lee; Barbara R DuPont; Roger E Stevenson; Steven A Skinner; Charles E Schwartz; David Genevieve; Bekim Sadikovic
American journal of human genetics, 106(3), 356-370, 2020年03月 - A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Aritoshi Iida; Kyoko Takano; Eri Takeshita; Chihiro Abe-Hatano; Shinichi Hirabayashi; Yuji Inaba; Shunichi Kosugi; Yoichiro Kamatani; Yukihide Momozawa; Michiaki Kubo; Eiji Nakagawa; Ken Inoue; Yu-Ichi Goto
Cold Spring Harbor molecular case studies, 5(6), 2019年12月 - PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Tomomi Yamaguchi; Kyoko Takano; Yuji Inaba; Manami Morikawa; Mitsuo Motobayashi; Rie Kawamura; Keiko Wakui; Eriko Nishi; Shin-Ichi Hirabayashi; Yoshimitsu Fukushima; Hiroyuki Kato; Jun Takahashi; Tomoki Kosho
American journal of medical genetics. Part A, 179(6), 948-957, 2019年06月 - Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.
Janyerkye Tulyeu; Moe Tamaura; Eriko Jimbo; Hiroko Shimbo; Kyoko Takano; Mizue Iai; Sumimasa Yamashita; Tomohide Goto; Noriko Aida; Etsuro Tokuhiro; Takanori Yamagata; Hitoshi Osaka
Brain & development, 41(2), 195-200, 2019年02月 - Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.
Takenori Natsume; Kyoko Takano; Mitsuo Motobayashi; Tomoki Kosho
Pediatrics international : official journal of the Japan Pediatric Society, 60(4), 378-380, 2018年04月 - Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.
Manami Morikawa; Kyoko Takano; Mitsuo Motobayashi; Naoko Shiba; Tomoki Kosho; Yozo Nakazawa; Yuji Inaba
Brain & development, 39(9), 804-807, 2017年10月 - Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Kyoko Takano; Kazuya Goto; Mitsuo Motobayashi; Keiko Wakui; Rie Kawamura; Tomomi Yamaguchi; Yoshimitsu Fukushima; Tomoki Kosho
European journal of medical genetics, 60(10), 521-526, 2017年10月 - WDR45 mutations in three male patients with West syndrome.
Mitsuko Nakashima; Kyoko Takano; Yu Tsuyusaki; Shinsaku Yoshitomi; Masayuki Shimono; Yoshihiro Aoki; Mitsuhiro Kato; Noriko Aida; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Hitoshi Osaka; Hirotomo Saitsu; Naomichi Matsumoto
Journal of human genetics, 61(7), 653-61, 2016年07月 - Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Kyoko Takano; Naoko Shiba; Keiko Wakui; Tomomi Yamaguchi; Noriko Aida; Yuji Inaba; Yoshimitsu Fukushima; Tomoki Kosho
American journal of medical genetics. Part A, 170A(2), 322-328, 2016年02月 - A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.
Kyoko Takano; Yu Tsuyusaki; Mutsumi Sato; Mariko Takagi; Rie Anzai; Mitsuko Okuda; Mizue Iai; Sumimasa Yamashita; Tetsuhiko Okabe; Noriko Aida; Yoshinori Tsurusaki; Hirotomo Saitsu; Naomichi Matsumoto; Hitoshi Osaka
Brain & development, 37(6), 638-42, 2015年06月 - Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
Takahito Wada; Kyoko Takano; Yoshinori Tsurusaki; Noriko Miyake; Mitsuko Nakashima; Hirotomo Saitsu; Naomichi Matsumoto; Hitoshi Osaka
Pediatrics international : official journal of the Japan Pediatric Society, 57(2), 324-6, 2015年04月 - Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Mitsuko Nakashima; Kyoko Takano; Hitoshi Osaka; Noriko Aida; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto
Journal of human genetics, 59(8), 471-4, 2014年08月 - An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Kyoko Takano; Dan Liu; Patrick Tarpey; Esther Gallant; Alex Lam; Shawn Witham; Emil Alexov; Alka Chaubey; Roger E Stevenson; Charles E Schwartz; Philip G Board; Angela F Dulhunty
Human molecular genetics, 21(20), 4497-507, 2012年10月 - Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
Takano K, Tan WH, Irons MB, Jones JR, et al.
Clin Genet., 80(6), 600-1, 2011年12月 - A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.
Shawn Witham; Kyoko Takano; Charles Schwartz; Emil Alexov
Proteins, 79(8), 2444-54, 2011年08月 - Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. 2010 Sep;78(3):282-8.
Takano K, Lyons M, Moyes C, Jones J, et al.
Clin Genet., 78(3), 282-8, 2010年09月 - A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.
Kyoko Takano; Eiji Nakagawa; Ken Inoue; Fumiaki Kamada; Shigeo Kure; Yu-ichi Goto
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 147B(4), 479-84, 2008年06月 - DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader-Willi syndrome and a mouse model.
Kyoko Takano; Maki Okajima; Shinji Saitoh
American journal of medical genetics. Part A, 143A(12), 1386-90, 2007年06月 - Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.
Kyoko Takano; Tetsu Nakamoto; Maki Okajima; Akira Sudo; Kimiaki Uetake; Shinji Saitoh
Pediatric neurology, 28(2), 142-4, 2003年02月
MISC
- 信大病院遺伝子医療研究センターにおける知的発達症の遺伝学的要因の探索
高野 亨子
脳と発達, 58(3), 252-252, 2026年05月 - 【中等度～最重度知的発達症をめぐる精神科臨床】中等度～最重度知的発達症を生じることの多い先天性疾患
高野 亨子
精神科治療学, 40(12), 1285-1289, 2025年12月 - 遺伝子診療部門における成人期にあるプラダーウィリー症候群患者に対する支援の検討
小島 朋美; 高野 亨子; 黄瀬 恵美子; 佐久 彰子; 古庄 知己
日本遺伝カウンセリング学会誌, 46(2), 187-187, 2025年07月 - 【遺伝学的検査Up to Date】遺伝学的検査の応用法を知ろう! 神経領域における遺伝学的検査の運用法を知ろう!
高野 亨子
小児科診療, 87(11), 1557-1560, 2024年11月 - 先天性・遺伝性疾患におけるクリニカルシークエンス検査前遺伝カウンセリングの評価
荒川 経子; 武田 良淳; 近藤 由佳; 久保田 紀子; 山口 智美; 高野 亨子; 古庄 知己
長野県立こども病院医学雑誌, 6, 23-31, 2023年09月 - クリニカルシークエンスにおける遺伝カウンセリングの評価
荒川 経子; 武田 良淳; 近藤 由佳; 久保田 紀子; 山口 智美; 高野 亨子; 古庄 知己
長野県立こども病院医学雑誌, 5, 46-46, 2022年09月
