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Page 1
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Beck DB, et al. Among authors: okada s. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan. Sci Adv. 2021. PMID: 33523931 Free PMC article.
Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
Tajima G, Sakura N, Shirao K, Okada S, Tsumura M, Nishimura Y, Ono H, Hasegawa Y, Hata I, Naito E, Yamaguchi S, Shigematsu Y, Kobayashi M. Tajima G, et al. Among authors: okada s. Pediatr Res. 2008 Dec;64(6):667-72. doi: 10.1203/PDR.0b013e318187cc44. Pediatr Res. 2008. PMID: 18670371
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
Kagawa R, Tajima G, Maeda T, Sakura F, Nakamura-Utsunomiya A, Hara K, Nishimura Y, Yuasa M, Shigematsu Y, Tanaka H, Fujihara S, Yoshii C, Okada S. Kagawa R, et al. Among authors: okada s. Int J Neonatal Screen. 2021 Jul 7;7(3):39. doi: 10.3390/ijns7030039. Int J Neonatal Screen. 2021. PMID: 34287232 Free PMC article.
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.
Asano T, Boisson B, Onodi F, Matuozzo D, Moncada-Velez M, Maglorius Renkilaraj MRL, Zhang P, Meertens L, Bolze A, Materna M, Korniotis S, Gervais A, Talouarn E, Bigio B, Seeleuthner Y, Bilguvar K, Zhang Y, Neehus AL, Ogishi M, Pelham SJ, Le Voyer T, Rosain J, Philippot Q, Soler-Palacín P, Colobran R, Martin-Nalda A, Rivière JG, Tandjaoui-Lambiotte Y, Chaïbi K, Shahrooei M, Darazam IA, Olyaei NA, Mansouri D, Hatipoğlu N, Palabiyik F, Ozcelik T, Novelli G, Novelli A, Casari G, Aiuti A, Carrera P, Bondesan S, Barzaghi F, Rovere-Querini P, Tresoldi C, Franco JL, Rojas J, Reyes LF, Bustos IG, Arias AA, Morelle G, Christèle K, Troya J, Planas-Serra L, Schlüter A, Gut M, Pujol A, Allende LM, Rodriguez-Gallego C, Flores C, Cabrera-Marante O, Pleguezuelo DE, de Diego RP, Keles S, Aytekin G, Akcan OM, Bryceson YT, Bergman P, Brodin P, Smole D, Smith CIE, Norlin AC, Campbell TM, Covill LE, Hammarström L, Pan-Hammarström Q, Abolhassani H, Mane S, Marr N, Ata M, Al Ali F, Khan T, Spaan AN, Dalgard CL, Bonfanti P, Biondi A, Tubiana S, Burdet C, Nussbaum R, Kahn-Kirby A, Snow AL; COVID Human Genetic Effort; COVID-STORM Clinicians; COVID Clinicians; Imagine COVID Group; French COVID Cohort Study … See abstract for full author list ➔ Asano T, et al. Sci Immunol. 2021 Aug 19;6(62):eabl4348. doi: 10.1126/sciimmunol.abl4348. Sci Immunol. 2021. PMID: 34413140 Free PMC article.
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms.
Seyama R, Tsuchida N, Okada Y, Sakata S, Hamada K, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Makino S, Itakura A, Okada S, Okamoto N, Ogata K, Uchiyama Y, Matsumoto N. Seyama R, et al. Among authors: okada s, okada y. J Hum Genet. 2022 Mar;67(3):157-164. doi: 10.1038/s10038-021-00986-y. Epub 2021 Nov 1. J Hum Genet. 2022. PMID: 34719681
Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.
Imamura M, Kawai T, Okada S, Izawa K, Takachi T, Iwabuchi H, Yoshida S, Hosokai R, Kanegane H, Yamamoto T, Umezu H, Nishikomori R, Heike T, Uchiyama M, Imai C. Imamura M, et al. Among authors: okada s. J Clin Immunol. 2011 Oct;31(5):802-10. doi: 10.1007/s10875-011-9568-9. Epub 2011 Jul 14. J Clin Immunol. 2011. PMID: 21755389
[CMCD: Chronic Mucocutaneous Candidiasis Disease].
Okada S. Okada S. Nihon Rinsho Meneki Gakkai Kaishi. 2017;40(2):109-117. doi: 10.2177/jsci.40.109. Nihon Rinsho Meneki Gakkai Kaishi. 2017. PMID: 28603201 Free article. Review. Japanese.
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y. Niihori T, et al. Among authors: okada s. Am J Hum Genet. 2019 Jun 6;104(6):1233-1240. doi: 10.1016/j.ajhg.2019.04.014. Epub 2019 May 23. Am J Hum Genet. 2019. PMID: 31130285 Free PMC article.
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S. Zhang X, et al. Among authors: okada s. Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12. Nature. 2015. PMID: 25307056 Free PMC article.
4,554 results