Zobrazeno 1 - 10
of 776
pro vyhledávání: '"axenfeld-rieger syndrome"'
Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling
Autor:
Serhiy Havrylov, Paul Chrystal, Suey van Baarle, Curtis R. French, Ian M. MacDonald, Jagannadha Avasarala, R. Curtis Rogers, Fred B. Berry, Tsutomu Kume, Andrew J. Waskiewicz, Ordan J. Lehmann
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-16 (2024)
Abstract Alterations to cilia are responsible for a wide range of severe disease; however, understanding of the transcriptional control of ciliogenesis remains incomplete. In this study we investigated whether altered cilia-mediated signaling contrib
Externí odkaz:
https://doaj.org/article/8843ebf9864f45db9e54d99a6ed394bb
Autor:
Rebecca1, Junejo, Murtaza Sameen1 drmurtazasameen@gmail.com, Jamil, Syed2, Junejo, Sameen Afzal2
Publikováno v:
Pakistan Journal of Ophthalmology. 2020, Vol. 36 Issue 3, p173-176. 4p.
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background The main features of Axenfeld–Rieger Syndrome (ARS) are ocular, auditory, neurological, and morphological brain abnormalities. Mutations in forkhead box protein C1 (FOXC1) are among the responsible genes causing ARS, but neurops
Externí odkaz:
https://doaj.org/article/3990da47792e451ab85fb41a37480560
Autor:
Wang, Xun1, Liu, Xing1, Huang, Liqin1, Fang, Shaohua1, Jia, Xiaoyun1, Xiao, Xueshan1, Li, Shiqiang1, Guo, Xiangming1 zocguoxm@aliyun.com
Publikováno v:
Current Eye Research. Nov2018, Vol. 43 Issue 11, p1334-1341. 8p.
Publikováno v:
Клиническая практика, Vol 14, Iss 3, Pp 112-118 (2023)
Background: AxenfeldRieger syndrome is a genetically heterogeneous group of morphogenesis disorders associated with abnormal development of the anterior segment of the eye, teeth, the organ of hearing, and abdominal region. Сongenital glaucoma, whic
Externí odkaz:
https://doaj.org/article/85f8361950cd4da6924db332519e7715
Autor:
de Vos, Ivo J. H. M.1 (AUTHOR), Stegmann, Alexander P. A.1 (AUTHOR), Webers, Carroll A. B.2 (AUTHOR), Stumpel, Constance T. R. M.1 (AUTHOR) c.stumpel@mumc.nl
Publikováno v:
Ophthalmic Genetics. Mar/Apr2017, Vol. 38 Issue 2, p101-107. 7p.
Autor:
Seifi, Morteza1, Footz, Tim1, Taylor, Sherry A. M.1, Elhady, Ghada M.2, Abdalla, Ebtesam M.2, Walter, Michael A.1 mwalter@ualberta.ca
Publikováno v:
Acta Ophthalmologica (1755375X). Nov2016, Vol. 94 Issue 7, pe571-e579. 9p.
Autor:
Micheal, Shazia1, Siddiqui, Sorath Noorani2, Zafar, Saemah Nuzhat2, Villanueva-Mendoza, Cristina3, Cortés-González, Vianney3, Khan, Muhammad Imran4, den Hollander, Anneke I.1,4 Anneke.denHollander@radboudumc.nl
Publikováno v:
PLoS ONE. 7/27/2016, Vol. 11 Issue 7, p1-9. 9p.
Autor:
Du, Rui-Feng1 (AUTHOR), Huang, Hao2 (AUTHOR), Fan, Liang-Liang2 (AUTHOR), Li, Xiang-Ping3 (AUTHOR), Xia, Kun2,4 (AUTHOR) xiakun@sklmg.edu.cn, Xiang, Rong2,3,4 (AUTHOR) shirlesmile@csu.edu.cn
Publikováno v:
Ophthalmic Genetics. Mar2016, Vol. 37 Issue 1, p111-115. 5p.