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Familial episodic limb pain in kindreds with novel Nav1.9 mutations.
Kabata R, Okuda H, Noguchi A, Kondo D, Fujiwara M, Hata K, Kato Y, Ishikawa K, Tanaka M, Sekine Y, Hishikawa N, Mizukami T, Ito J, Akasaka M, Sakurai K, Yoshida T, Minoura H, Hayashi T, Inoshita K, Matsuyama M, Kinjo N, Cao Y, Inoue S, Kobayashi H, Harada KH, Youssefian S, Takahashi T, Koizumi A. Kabata R, et al. Among authors: youssefian s. PLoS One. 2018 Dec 17;13(12):e0208516. doi: 10.1371/journal.pone.0208516. eCollection 2018. PLoS One. 2018. PMID: 30557356 Free PMC article.
Infantile Pain Episodes Associated with Novel Nav1.9 Mutations in Familial Episodic Pain Syndrome in Japanese Families.
Okuda H, Noguchi A, Kobayashi H, Kondo D, Harada KH, Youssefian S, Shioi H, Kabata R, Domon Y, Kubota K, Kitano Y, Takayama Y, Hitomi T, Ohno K, Saito Y, Asano T, Tominaga M, Takahashi T, Koizumi A. Okuda H, et al. Among authors: youssefian s. PLoS One. 2016 May 25;11(5):e0154827. doi: 10.1371/journal.pone.0154827. eCollection 2016. PLoS One. 2016. PMID: 27224030 Free PMC article. Clinical Trial.
RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients.
Kobayashi H, Brozman M, Kyselová K, Viszlayová D, Morimoto T, Roubec M, Školoudík D, Petrovičová A, Juskanič D, Strauss J, Halaj M, Kurray P, Hranai M, Harada KH, Inoue S, Yoshida Y, Habu T, Herzig R, Youssefian S, Koizumi A. Kobayashi H, et al. Among authors: youssefian s. PLoS One. 2016 Oct 13;11(10):e0164759. doi: 10.1371/journal.pone.0164759. eCollection 2016. PLoS One. 2016. PMID: 27736983 Free PMC article.
Dysregulation of RNF213 promotes cerebral hypoperfusion.
Morimoto T, Enmi JI, Hattori Y, Iguchi S, Saito S, Harada KH, Okuda H, Mineharu Y, Takagi Y, Youssefian S, Iida H, Miyamoto S, Ihara M, Kobayashi H, Koizumi A. Morimoto T, et al. Among authors: youssefian s. Sci Rep. 2018 Feb 26;8(1):3607. doi: 10.1038/s41598-018-22064-8. Sci Rep. 2018. PMID: 29483617 Free PMC article.
Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.
Kobayashi H, Kabata R, Kinoshita H, Morimoto T, Ono K, Takeda M, Choi J, Okuda H, Liu W, Harada KH, Kimura T, Youssefian S, Koizumi A. Kobayashi H, et al. Among authors: youssefian s. Pulm Circ. 2018 Jul-Sep;8(3):2045894018778155. doi: 10.1177/2045894018778155. Epub 2018 May 2. Pulm Circ. 2018. PMID: 29718794 Free PMC article.
Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner.
Takeda M, Tezuka T, Kim M, Choi J, Oichi Y, Kobayashi H, Harada KH, Mizushima T, Taketani S, Koizumi A, Youssefian S. Takeda M, et al. Among authors: youssefian s. Biochem Biophys Res Commun. 2020 May 7;525(3):668-674. doi: 10.1016/j.bbrc.2020.02.024. Epub 2020 Mar 3. Biochem Biophys Res Commun. 2020. PMID: 32139119 Free article.
39 results