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A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.
Zhang L, Hirano A, Hsu PK, Jones CR, Sakai N, Okuro M, McMahon T, Yamazaki M, Xu Y, Saigoh N, Saigoh K, Lin ST, Kaasik K, Nishino S, Ptáček LJ, Fu YH. Zhang L, et al. Among authors: xu y. Proc Natl Acad Sci U S A. 2016 Mar 15;113(11):E1536-44. doi: 10.1073/pnas.1600039113. Epub 2016 Feb 22. Proc Natl Acad Sci U S A. 2016. PMID: 26903630 Free PMC article.
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptácek LJ. Lee HY, et al. Among authors: xu y. Hum Mol Genet. 2004 Dec 15;13(24):3161-70. doi: 10.1093/hmg/ddh330. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496428
A Cryptochrome 2 mutation yields advanced sleep phase in humans.
Hirano A, Shi G, Jones CR, Lipzen A, Pennacchio LA, Xu Y, Hallows WC, McMahon T, Yamazaki M, Ptáček LJ, Fu YH. Hirano A, et al. Among authors: xu y. Elife. 2016 Aug 16;5:e16695. doi: 10.7554/eLife.16695. Elife. 2016. PMID: 27529127 Free PMC article.
Guidelines for Genome-Scale Analysis of Biological Rhythms.
Hughes ME, Abruzzi KC, Allada R, Anafi R, Arpat AB, Asher G, Baldi P, de Bekker C, Bell-Pedersen D, Blau J, Brown S, Ceriani MF, Chen Z, Chiu JC, Cox J, Crowell AM, DeBruyne JP, Dijk DJ, DiTacchio L, Doyle FJ, Duffield GE, Dunlap JC, Eckel-Mahan K, Esser KA, FitzGerald GA, Forger DB, Francey LJ, Fu YH, Gachon F, Gatfield D, de Goede P, Golden SS, Green C, Harer J, Harmer S, Haspel J, Hastings MH, Herzel H, Herzog ED, Hoffmann C, Hong C, Hughey JJ, Hurley JM, de la Iglesia HO, Johnson C, Kay SA, Koike N, Kornacker K, Kramer A, Lamia K, Leise T, Lewis SA, Li J, Li X, Liu AC, Loros JJ, Martino TA, Menet JS, Merrow M, Millar AJ, Mockler T, Naef F, Nagoshi E, Nitabach MN, Olmedo M, Nusinow DA, Ptáček LJ, Rand D, Reddy AB, Robles MS, Roenneberg T, Rosbash M, Ruben MD, Rund SSC, Sancar A, Sassone-Corsi P, Sehgal A, Sherrill-Mix S, Skene DJ, Storch KF, Takahashi JS, Ueda HR, Wang H, Weitz C, Westermark PO, Wijnen H, Xu Y, Wu G, Yoo SH, Young M, Zhang EE, Zielinski T, Hogenesch JB. Hughes ME, et al. Among authors: xu y. J Biol Rhythms. 2017 Oct;32(5):380-393. doi: 10.1177/0748730417728663. Epub 2017 Nov 3. J Biol Rhythms. 2017. PMID: 29098954 Free PMC article.
TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.
Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH, Ptáček LJ. Kurien P, et al. Among authors: xu y. Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):12045-12053. doi: 10.1073/pnas.1819110116. Epub 2019 May 28. Proc Natl Acad Sci U S A. 2019. PMID: 31138685 Free PMC article.
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