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Page 1
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I, Tanaka AJ, Wang J, Zhang G, Dujmovic I, Mader S, Jeganathan V, DeAngelis T, Funaro M, Harel A, Messina M, Shabbir M, Nursey V, DeGouvia W, Laurent M, Blitz K, Jindra P, Gudesblatt M; Regeneron Genetics Center; King A, Drulovic J, Yunis E, Brusic V, Shen Y, Keskin DB, Najjar S, Stern JNH. Tabansky I, et al. Among authors: tanaka aj. Front Immunol. 2022 Oct 4;13:900605. doi: 10.3389/fimmu.2022.900605. eCollection 2022. Front Immunol. 2022. PMID: 36268024 Free PMC article.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: tanaka aj. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
Recent insights into peroxisome biogenesis and associated diseases.
Fujiki Y, Abe Y, Imoto Y, Tanaka AJ, Okumoto K, Honsho M, Tamura S, Miyata N, Yamashita T, Chung WK, Kuroiwa T. Fujiki Y, et al. Among authors: tanaka aj. J Cell Sci. 2020 May 11;133(9):jcs236943. doi: 10.1242/jcs.236943. J Cell Sci. 2020. PMID: 32393673 Review.
Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis.
Jauregui R, Cho A, Xu CL, Tanaka AJ, Sparrow JR, Tsang SH. Jauregui R, et al. Among authors: tanaka aj. Ophthalmic Genet. 2020 Apr;41(2):198-200. doi: 10.1080/13816810.2020.1737949. Epub 2020 Mar 16. Ophthalmic Genet. 2020. PMID: 32172635 Free PMC article. No abstract available.
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