研究概要

主要論文

「*」は、理研外のみでの成果です。

• 1. Shima Y*, Sasagawa S*, Ohta N*(equal contribution), Oyama R, Sogawa C, Kim Y, Sakashita-Kubota M, Kawakami H, Naemura K, Takubo N, Kobayashi M, Ozeki A, Nakaki R, Tanaka M, Kamatani Y, Matsuda K, Kurihara H, Furihata T, Takahashi S, Rikitake Y, Kozaki K, Nakafuku M, Mataga N, Ohtsuka N, Akimitsu N, Wada Y, Kamiguchi H, Okabe S, Kato T, Nakagawa H, Saito N, and Nakatomi H.
  "Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms."
  Sci Transl Med. 2023 Jun 14;15(700):eabq7721. doi: 10.1126/scitranslmed.abq7721. Epub 2023 Jun 14. PMID: 37315111.
• 2. *Hongo H, Miyawaki S, Teranishi Y, Ishigami D, Ohara K, Sakai Y, Shimada D, Umekawa M, Koizumi S, Ono H, Nakatomi H, Saito N.
  "Genetics of brain arteriovenous malformations and cerebral cavernous malformations."
  J Hum Genet. 2023 Mar;68(3):157-167. doi: 10.1038/s10038-022-01063-8. Epub 2022 Jul 13. PMID: 35831630.
• 3. *Teranishi Y, Miyawaki S, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Nakatomi H, Morishita S, Tsuji S, Saito N.
  "Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2."
  J Med Genet. 2021 Oct;58(10):701-711. doi: 10.1136/jmedgenet-2020-106973. Epub 2020 Oct 16.PMID: 33067351
• 4. *Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N.
  "Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations."
  Angiogenesis. 2022 Jul 29. doi: 10.1007/s10456-022-09846-5. Online ahead of print. PMID: 35902510
• 5. *Dofuku S, Sonehara K, Miyawaki S, Sakaue S, Imai H, Shimizu M, Hongo H, Shinya Y, Ohara K, Teranishi Y, Okano A, Ono H, Nakatomi H, Teraoka A, Yamamoto K, Maeda Y, Nii T, Kishikawa T, Suzuki K, Hirata J, Takahashi M, Matsuda K, Kumanogoh A, Matsuda F, Okada Y, Saito N.
  "Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study."
  Transl Stroke Res. 2022 Jun 14. doi: 10.1007/s12975-022-01049-w. Online ahead of print. PMID: 35701560
• 6. *Ishigami D, Miyawaki S, Imai H, Shimizu M, Hongo H, Dofuku S, Ohara K, Teranishi Y, Shimada D, Koizumi S, Ono H, Hirano Y, Segawa M, Nakatomi H, Saito N.
  "RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events."
  Transl Stroke Res. 2022 Jun;13(3):410-419. doi: 10.1007/s12975-021-00956-8. Epub 2021 Oct 30.PMID: 34716882
• 7. *Sakai Y, Miyawaki S, Teranishi Y, Okano A, Ohara K, Hongo H, Ishigami D, Shimada D, Mitsui J, Nakatomi H, Saito N.
  "NF2 Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas."
  Cancers (Basel). 2022 Jun 29;14(13):3183. doi: 10.3390/cancers14133183. PMID: 35804955
• 8. *Okano A, Miyawaki S, Teranishi Y, Ohara K, Hongo H, Sakai Y, Ishigami D, Nakatomi H, Saito N.
  "Advances in Molecular Biological and Translational Studies in World Health Organization Grades 2 and 3 Meningiomas: A Literature Review."
  Neurol Med Chir (Tokyo). 2022 Aug 15;62(8):347-360. doi: 10.2176/jns-nmc.2022-0114. Epub 2022 Jul 22.PMID: 35871574
• 9. *Ishigami D, Miyawaki S, Imai H, Shimizu M, Hongo H, Dofuku S, Ohara K, Teranishi Y, Shimada D, Koizumi S, Ono H, Hirano Y, Segawa M, Nakatomi H, Saito N.Saito N. "Correction to: RNF213 p.Arg4810Lys Heterozygosity in Moyamoya Disease Indicates Early Onset and Bilateral Cerebrovascular Events."
  Transl Stroke Res. 2022 Aug;13(4):652. doi: 10.1007/s12975-021-00971-9. PMID: 34826044
• 10. *Teranishi Y, Miyawaki S, Nakatomi H, Ohara K, Hongo H, Dofuku S, Okano A, Takayanagi S, Ota T, Yoshimura J, Qu W, Mitsui J, Morishita S, Tsuji S, Saito N.
  "Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype-phenotype correlation with targeted deep sequencing."
  Sci Rep. 2022 Jun 9;12(1):9543. doi: 10.1038/s41598-022-13580-9. PMID: 35681071

研究成果（プレスリリース）

• 

  2023年6月15日
  脳動脈瘤発生に重要な体細胞遺伝子変異を発見

メンバーリスト

採用情報

募集職種	応募締切
テクニカルスタッフ募集（W23280）	ポストが決まり次第
テクニカルスタッフ募集（W23067）	ポストが決まり次第

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