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Tetsuya Niihori

Showing results (1-10 of 103) with videos related to

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Congenital Anomalies|February 7, 2017
Patient with a novel purine-rich element binding protein A mutationNobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, et al.
Journal of Human Genetics|October 9, 2015
Recent advances in RASopathiesYoko Aoki, Tetsuya Niihori, Shin-ichi Inoue, et al.
American Journal of Medical Genetics. Part A|June 27, 2017
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotypeKimiko Ueda, Masako Yaoita, Tetsuya Niihori, et al.
Human Mutation|May 13, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersYoko Aoki, Tetsuya Niihori, Yoko Narumi, et al.
Molecular Genetics & Genomic Medicine|December 13, 2025
Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G MutationDai Suzuki, Taiki Abe, Tetsuya Niihori, et al.
Journal of Human Genetics|June 28, 2020
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout diseaseAkifumi Nozawa, Michio Ozeki, Tetsuya Niihori, et al.
Human Molecular Genetics|May 14, 2024
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesisAkifumi Nozawa, Taiki Abe, Tetsuya Niihori, et al.
JCI Insight|October 1, 2024
Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in miceTaiki Abe, Kaho Morisaki, Tetsuya Niihori, et al.
Cell Death & Disease|August 25, 2023
LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretionTaiki Abe, Shin-Ichiro Kanno, Tetsuya Niihori, et al.
Brain & Development|November 25, 2010
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorderYoriko Watanabe, Shoji Yano, Tetsuya Niihori, et al.
Pageof 11

Showing results (1-10 of 103) with videos related to

Sort By:
Pageof 11
Congenital Anomalies|February 7, 2017
Patient with a novel purine-rich element binding protein A mutationNobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, et al.
Journal of Human Genetics|October 9, 2015
Recent advances in RASopathiesYoko Aoki, Tetsuya Niihori, Shin-ichi Inoue, et al.
American Journal of Medical Genetics. Part A|June 27, 2017
Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotypeKimiko Ueda, Masako Yaoita, Tetsuya Niihori, et al.
Human Mutation|May 13, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disordersYoko Aoki, Tetsuya Niihori, Yoko Narumi, et al.
Molecular Genetics & Genomic Medicine|December 13, 2025
Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G MutationDai Suzuki, Taiki Abe, Tetsuya Niihori, et al.
Journal of Human Genetics|June 28, 2020
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout diseaseAkifumi Nozawa, Michio Ozeki, Tetsuya Niihori, et al.
Human Molecular Genetics|May 14, 2024
Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesisAkifumi Nozawa, Taiki Abe, Tetsuya Niihori, et al.
JCI Insight|October 1, 2024
Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome-like phenotypes in miceTaiki Abe, Kaho Morisaki, Tetsuya Niihori, et al.
Cell Death & Disease|August 25, 2023
LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretionTaiki Abe, Shin-Ichiro Kanno, Tetsuya Niihori, et al.
Brain & Development|November 25, 2010
A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorderYoriko Watanabe, Shoji Yano, Tetsuya Niihori, et al.
Pageof 11