Zobrazeno 1 - 10
of 1 213
pro vyhledávání: '"Myocilin"'
Autor:
Shruti V. Patil, Balasankara Reddy Kaipa, Sujata Ranshing, Yogapriya Sundaresan, J. Cameron Millar, Bhavani Nagarajan, Charles Kiehlbauch, Qihong Zhang, Ankur Jain, Charles C. Searby, Todd E. Scheetz, Abbot F. Clark, Val C. Sheffield, Gulab S. Zode
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Mutations in myocilin (MYOC) are the leading known genetic cause of primary open-angle glaucoma, responsible for about 4% of all cases. Mutations in MYOC cause a gain-of-function phenotype in which mutant myocilin accumulates in the endoplas
Externí odkaz:
https://doaj.org/article/30e1fedfb0d445a39df2b98bbdbfd4a5
Autor:
Aroca-Aguilar, José-Daniel1,2, Fernández-Navarro, Ana1, Ontañón, Jesús3, Coca-Prados, Miguel4,5, Escribano, Julio1,2 julio.escribano@uclm.es
Publikováno v:
PLoS ONE. 12/17/2018, Vol. 13 Issue 12, p1-18. 18p.
Autor:
Lynch, Jeffrey M.1 jeffrey.lynch@novartis.com, Dolman, Andrew J.1, Guo, Chenying1, Dolan, Katie1, Xiang, Chuanxi1, Reda, Samir1, Li, Bing1, Prasanna, Ganesh1
Publikováno v:
PLoS ONE. 10/5/2018, Vol. 13 Issue 11, p1-25. 25p.
Publikováno v:
Tropical Journal of Pharmaceutical Research. Oct2017, Vol. 16 Issue 10, p2527-2533. 7p.
Autor:
JOONHONG PARK1,2, MYUNGSHIN KIM1,2 microkim@catholic.ac.kr, CHAN KEE PARK3 ckpark@catholic.ac.kr, HYOJIN CHAE1,2, SEUNGOK LEE1,2, YONGGOO KIM1,2, WOORI JANG1,2, HYUN YOUNG CHI4, HAE-YOUNG LOPILLY PARK3, SHIN HAE PARK3
Publikováno v:
Molecular Medicine Reports. 2016, Vol. 14 Issue 3, p2439-2448. 10p.
Autor:
Souzeau, Emmanuelle1 emmanuelle.souzeau@flinders.edu.au, Burdon, Kathryn P.2, Ridge, Bronwyn1, Dubowsky, Andrew3, Ruddle, Jonathan B.4, Craig, Jamie E.1
Publikováno v:
BMC Medical Genetics. 4/14/2016, Vol. 17, p1-5. 5p.
Akademický článek
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Autor:
Manoj Yadav, Anshu Yadav, Aarti Bhardwaj, Chand Singh Dhull, Sumit Sachdeva, Ritu Yadav, Mukesh Tanwar
Publikováno v:
Indian Journal of Ophthalmology, Vol 71, Iss 8, Pp 3016-3023 (2023)
Purpose: This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and
Externí odkaz:
https://doaj.org/article/88715d69473342b593d2a45904caa663
Publikováno v:
Indian Journal of Ophthalmology, Vol 71, Iss 5, Pp 1739-1756 (2023)
Glaucoma is a series of linked optic diseases resulting in progressive vision loss and total blindness due to the acquired loss of retinal ganglion cells. This harm to the optic nerve results in visual impairment and, ultimately, total blindness if l
Externí odkaz:
https://doaj.org/article/d2d1a04d10f24b49997feb6d83929f79
Autor:
Yunsuk Choi, Hyunseok Jee
Publikováno v:
The Asian Journal of Kinesiology, Vol 25, Iss 1, Pp 19-26 (2023)
BACKGROUND Various factors-based properties of the skeletal muscle are determined by mechanical stress, chemical stimuli, neuromuscular stimuli, different protein isoforms etc. The properties of the muscle are formed in the process of the balance bet
Externí odkaz:
https://doaj.org/article/a6f93b47aa6a4bbd9e43fae8282eebf0