エントリ 名称 家族性睡眠相前進症候群
概要 Familial advanced sleep phase syndrome (FASPS) is characterized by a stable sleep schedule with a 4-hour advance than the conventional or desired time. FASPS is associated with mutations in PER2, whose level oscillates with a nearly 24 hour period. Recently, it has been reported that FASPS is also caused by mutations in CSNK1D gene and PER3 gene.
カテゴリ 神経系疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy パスウェイ 病因遺伝子 リンク 文献 著者 Barion A
タイトル Circadian rhythm sleep disorders.
雑誌 文献 著者 Bjorvatn B, Pallesen S
タイトル A practical approach to circadian rhythm sleep disorders.
雑誌 文献 著者 Jones CR, Campbell SS, Zone SE, Cooper F, DeSano A, Murphy PJ, Jones B, Czajkowski L, Ptacek LJ
タイトル Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans.
雑誌 文献 著者 Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptacek LJ, Fu YH
タイトル An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
雑誌 文献 著者 Brennan KC, Bates EA, Shapiro RE, Zyuzin J, Hallows WC, Huang Y, Lee HY, Jones CR, Fu YH, Charles AC, Ptacek LJ
タイトル Casein kinase idelta mutations in familial migraine and advanced sleep phase.
雑誌 文献 著者 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, Ptacek LJ, Fu YH
タイトル A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.
雑誌 文献 著者 Kurien P, Hsu PK, Leon J, Wu D, McMahon T, Shi G, Xu Y, Lipzen A, Pennacchio LA, Jones CR, Fu YH, Ptacek LJ
タイトル TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.
雑誌 LinkDB All DBs
