Original Papers- AOKI Yoko -
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total:128
[2019]
1.Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome..[Endocrine journal,66(11),(2019),983-994]Yasuko Shoji, Shinobu Ida, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Yuri Etani, Masanobu Kawai
10.1507/endocrj.EJ18-0564
http://www.ncbi.nlm.nih.gov/pubmed/31292302
2.Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm..[Circulation. Cardiovascular imaging,12(9),(2019),e009429-]Ogihara Y, Fujimoto N, Ohashi H, Yamamoto N, Ito H, Mitani Y, Aoki Y, Imanaka-Yosida K, Ito M, Dohi K
10.1161/CIRCIMAGING.119.009429
http://www.ncbi.nlm.nih.gov/pubmed/31451008
3.Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis..[Orphanet journal of rare diseases,14(1),(2019),215]Michio Ozeki, Yoko Aoki, Akifumi Nozawa, Shiho Yasue, Saori Endo, Yumiko Hori, Kentaro Matsuoka, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Toshiyuki Fukao
10.1186/s13023-019-1191-5
http://www.ncbi.nlm.nih.gov/pubmed/31511039
4.LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases..[Cell death and differentiation,(2019)]Taiki Abe, Ikumi Umeki, Shin-Ichiro Kanno, Shin-Ichi Inoue, Tetsuya Niihori, Yoko Aoki
10.1038/s41418-019-0395-5
http://www.ncbi.nlm.nih.gov/pubmed/31337872
5.Biallelic GALM pathogenic variants cause a novel type of galactosemia..[Genetics in medicine : official journal of the American College of Medical Genetics,21(6),(2019),1286-1294]Yoichi Wada, Atsuo Kikuchi, Natsuko Arai-Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, Seizo Koshiba, Toshiyuki Fukao, Shigeo Kure
10.1038/s41436-018-0340-x
http://www.ncbi.nlm.nih.gov/pubmed/30451973
6.Recurrent de novo MAPK8IP3 variants cause neurological phenotypes..[Annals of neurology,85(6),(2019),927-933]Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, Yasuko Kobayashi, Kazuhiro Haginoya, Hiroshi Matsumoto, Kenji Kurosawa, Masayuki Ochiai, Yasunari Sakai, Atsushi Fujita, Noriko Miyake, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Shigeaki Nonoyama, Shouichi Ohga, Hiroshi Kawame, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Tadashi Kaname, Yoichi Matsubara, Wataru Shoji, Shigeo Kure
10.1002/ana.25481
http://www.ncbi.nlm.nih.gov/pubmed/30945334
7.Germline-Activating RRAS2 Mutations Cause Noonan Syndrome..[American journal of human genetics,104(6),(2019),1233-1240]Tetsuya Niihori, Koki Nagai, Atsushi Fujita, Hirofumi Ohashi, Nobuhiko Okamoto, Satoshi Okada, Atsuko Harada, Hirotaka Kihara, Thomas Arbogast, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Taiki Abe, Shin-Ichi Inoue, I-Chun Tsai, Naomichi Matsumoto, Erica E Davis, Nicholas Katsanis, Yoko Aoki
10.1016/j.ajhg.2019.04.014
http://www.ncbi.nlm.nih.gov/pubmed/31130285
8.Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome..[Journal of human genetics,64(5),(2019),499-504]Sato Suzuki-Muromoto, Takuya Miyabayashi, Koki Nagai, Saeko Yamamura-Suzuki, Mai Anzai, Yusuke Takezawa, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Atsuo Kikuchi, Tetsuya Niihori, Yoko Aoki, Shigeo Kure, Kazuhiro Haginoya
10.1038/s10038-019-0579-3
http://www.ncbi.nlm.nih.gov/pubmed/30842599
9.New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis..[EBioMedicine,42,(2019),43-53]Shingo Takahara, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, Katsuhisa Matsuura, Yasumi Nakashima, Tetsuya Niihori, Yoichi Matsubara, Yoshikatsu Saiki, Yoko Aoki
10.1016/j.ebiom.2019.03.014
http://www.ncbi.nlm.nih.gov/pubmed/30898653
10.C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome..[Human molecular genetics,28(1),(2019),74-83]Inoue SI, Morozumi N, Yoshikiyo K, Maeda H, Aoki Y
10.1093/hmg/ddy333
http://www.ncbi.nlm.nih.gov/pubmed/30239744
11.Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes..[Human genetics,138(1),(2019),21-35]Ikumi Umeki, Tetsuya Niihori, Taiki Abe, Shin-Ichiro Kanno, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Keisuke Nagasaki, Makoto Yoshida, Hirofumi Ohashi, Shin-Ichi Inoue, Yoichi Matsubara, Ikuma Fujiwara, Shigeo Kure, Yoko Aoki
10.1007/s00439-018-1951-7
http://www.ncbi.nlm.nih.gov/pubmed/30368668
[2018]
12.Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.[Nature Communications,9,(2018)]Shazia Ashraf, Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A. Lawson, Weizhen Tan, Tobias Hermle, Jillian K. Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A. Braun, Heon Yung Gee, Heon Yung Gee, David Schapiro, Amar J. Majmundar, Carolin E. Sadowski, Werner L. Pabst, Ankana Daga, Amelie T. Van Der Ven, Johanna M. Schmidt, Boon Chuan Low, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K. Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A. Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A. Soliman, Shrikant M. Mane, Lewis Kaufman, Douglas R. Lowy, Mohamad A. Jairajpuri, Richard P. Lifton, Richard P. Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
10.1038/s41467-018-04193-w
http://www.scopus.com/inward/record.url?eid=85047275091&partnerID=40
13.Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.[Clinical Case Reports,6,(2018),1202-1207]Akihiro Tamura, Suguru Uemura, Suguru Uemura, Kousaku Matsubara, Eru Kozuki, Toshikatsu Tanaka, Nanako Nino, Nanako Nino, Takehito Yokoi, Takehito Yokoi, Atsuro Saito, Toshiaki Ishida, Daiichiro Hasegawa, Ikumi Umeki, Tetsuya Niihori, Yozo Nakazawa, Kenichi Koike, Yoko Aoki, Yoshiyuki Kosaka
10.1002/ccr3.1568
http://www.scopus.com/inward/record.url?eid=85049289596&partnerID=40
14.Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation.[Brain and Development,40,(2018),410-414]Haruhiko Nakamura, Mitsugu Uematsu, Yurika Numata-Uematsu, Yu Abe, Wakaba Endo, Atsuo Kikuchi, Yusuke Takezawa, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Tetsuya Niihori, Yoko Aoki, Kazuhiro Haginoya, Shigeo Kure
10.1016/j.braindev.2017.12.015
http://www.ncbi.nlm.nih.gov/pubmed/29395664 http://www.scopus.com/inward/record.url?eid=85040983655&partnerID=40
15.Genomic analysis identifies masqueraders of full-term cerebral palsy.[Annals of Clinical and Translational Neurology,5,(2018),538-551]Yusuke Takezawa, Atsuo Kikuchi, Kazuhiro Haginoya, Kazuhiro Haginoya, Kazuhiro Haginoya, Tetsuya Niihori, Yurika Numata-Uematsu, Yurika Numata-Uematsu, Takehiko Inui, Takehiko Inui, Saeko Yamamura-Suzuki, Takuya Miyabayashi, Mai Anzai, Mai Anzai, Sato Suzuki-Muromoto, Yukimune Okubo, Yukimune Okubo, Wakaba Endo, Wakaba Endo, Noriko Togashi, Yasuko Kobayashi, Akira Onuma, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Shigeo Kure
10.1002/acn3.551
http://www.scopus.com/inward/record.url?eid=85044424784&partnerID=40
16.Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.[Brain and Development,(2018)]Yusuke Takezawa, Hiromi Fujie, Atsuo Kikuchi, Tetsuya Niihori, Ryo Funayama, Matsuyuki Shirota, Keiko Nakayama, Yoko Aoki, Masayuki Sasaki, Shigeo Kure
10.1016/j.braindev.2018.06.010
http://www.scopus.com/inward/record.url?eid=85049300516&partnerID=40
[2017]
17.Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.[Human Molecular Genetics,26,(2017),4715-4727]Shin Ichi Inoue, Shingo Takahara, Shingo Takahara, Takeo Yoshikawa, Tetsuya Niihori, Kazuhiko Yanai, Yoichi Matsubara, Yoichi Matsubara, Yoko Aoki
10.1093/hmg/ddx354
http://www.ncbi.nlm.nih.gov/pubmed/28973166 http://www.scopus.com/inward/record.url?eid=85042237244&partnerID=40
18.Patient with a novel purine-rich element binding protein A mutation.[Congenital Anomalies,57,(2017),201-204]Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki
10.1111/cga.12214
http://www.ncbi.nlm.nih.gov/pubmed/28164378 http://www.scopus.com/inward/record.url?eid=85016189164&partnerID=40
19.NOTCH2 Hajdu-Cheney Mutations Escape SCF<sup>FBW7</sup>-Dependent Proteolysis to Promote Osteoporosis.[Molecular Cell,68,(2017),645-658]Hidefumi Fukushima, Kouhei Shimizu, Kouhei Shimizu, Asami Watahiki, Seira Hoshikawa, Seira Hoshikawa, Tomoki Kosho, Daiju Oba, Seiji Sakano, Makiko Arakaki, Makiko Arakaki, Aya Yamada, Katsuyuki Nagashima, Koji Okabe, Satoshi Fukumoto, Satoshi Fukumoto, Eijiro Jimi, Anna Bigas, Keiichi I. Nakayama, Keiko Nakayama, Yoko Aoki, Wenyi Wei, Hiroyuki Inuzuka
10.1016/j.molcel.2017.10.018
http://www.ncbi.nlm.nih.gov/pubmed/29149593 http://www.scopus.com/inward/record.url?eid=85034790791&partnerID=40
20.Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.[American Journal of Medical Genetics, Part A,173,(2017),2346-2352]Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
10.1002/ajmg.a.38337
http://www.ncbi.nlm.nih.gov/pubmed/28650561 http://www.scopus.com/inward/record.url?eid=85021365414&partnerID=40
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