Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome

التفاصيل البيبلوغرافية
العنوان: Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome
المؤلفون: Nobuta, H, Cilio, MR, Danhaive, O, Tsai, HH, Tupal, S, Chang, SM, Murnen, A, Kreitzer, F, Bravo, V, Czeisler, C, Gokozan, HN, Gygli, P, Bush, S, Weese-Mayer, DE, Conklin, B, Yee, SP, Huang, EJ, Gray, PA, Rowitch, D, Otero, JJ
المصدر: Nobuta, H; Nobuta, H; Cilio, MR; Cilio, MR; Danhaive, O; Tsai, HH; et al.(2015). Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome. Acta Neuropathologica. doi: 10.1007/s00401-015-1441-0. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/3qc1s561
بيانات النشر: eScholarship, University of California, 2015.
سنة النشر: 2015
الوصف: © 2015 The Author(s) Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem structures developmentally affected in CCHS, we analyzed two postmortem neonatal-lethal cases with confirmed polyalanine repeat expansion (PARM) or Non-PARM (PHOX2B∆8) mutation of PHOX2B. Both human cases showed neuronal losses within the locus coeruleus (LC), which is important for central noradrenergic signaling. Using a conditionally active transgenic mouse model of the PHOX2B∆8 mutation, we found that early embryonic expression (
وصف الملف: application/pdf
اللغة: English
DOI: 10.1007/s00401-015-1441-0.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::c8f3c84de071508b718dc321714d504e
http://www.escholarship.org/uc/item/3qc1s561
Rights: OPEN
رقم الانضمام: edsair.od.......325..c8f3c84de071508b718dc321714d504e
قاعدة البيانات: OpenAIRE
الوصف
DOI:10.1007/s00401-015-1441-0.