Zobrazeno 1 - 10
of 28
pro vyhledávání: '"V. Vinod Mootha"'
Autor:
Jiaxin Hu, Xiulong Shen, Mahboubeh Kheirabadi, Matthew D. Streeter, Ziqing Qian, V. Vinod Mootha, David R. Corey
Publikováno v:
ACS Omega, Vol 8, Iss 45, Pp 42797-42802 (2023)
Externí odkaz:
https://doaj.org/article/ae6a382237fa4f6b910135a6aa95d4ce
Autor:
Matthew Gillings, MD, Andrew Mastro, MD, Xunzhi Zhang, Kelly Kiser, MD, Jane Gu, Chao Xing, PhD, Danielle M. Robertson, OD, PhD, W. Matthew Petroll, PhD, V. Vinod Mootha, MD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 1, Pp 100214- (2023)
Objective: Seventy percent of Fuchs’ endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the transcription factor 4 gene (TCF4). The objective of this study was to characterize the corneal subbasal
Externí odkaz:
https://doaj.org/article/39d71abdce6640558ab4c049e6052c14
Publikováno v:
PLoS ONE, Vol 18, Iss 12 (2023)
Externí odkaz:
https://doaj.org/article/58aa851ef3ab41bb8a10af7631a2fc11
Autor:
Natalie A. Afshari, Robert P. Igo, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V. Lakshmi Pulagam, Steven Dunn, John F. Stamler, Barbara J. Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass, Yi-Ju Li, Sudha K. Iyengar
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Fuchs endothelial corneal dystrophy (FECD) is one of the most common reasons for corneal transplantation, and is known to cluster in families. Here, the authors discover new genetic loci associated with FECD with sex-specific effects and implications
Externí odkaz:
https://doaj.org/article/d1c65f3362014583bd22c5188abefc76
Autor:
Brian C. Leonard, Sangwan Park, Soohyun Kim, Laura J. Young, Iman Jalilian, Krista Cosert, Xunzhi Zhang, Jessica M. Skeie, Hanna Shevalye, Nayeli Echeverria, Vanessa Rozo, Xin Gong, Chao Xing, Christopher J. Murphy, Mark A. Greiner, V. Vinod Mootha, Vijay Krishna Raghunathan, Sara M. Thomasy
Publikováno v:
Investigative ophthalmology & visual science, vol 64, iss 4
PurposeWe sought to define the role of Wwtr1 in murine ocular structure and function and determine the role of mechanotransduction in Fuchs' endothelial corneal dystrophy (FECD), with emphasis on interactions between corneal endothelial cells (CEnCs)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::556f460b3e3a6c3eb64d4dd746dac501
https://escholarship.org/uc/item/2hr2q66c
https://escholarship.org/uc/item/2hr2q66c
Publikováno v:
Investigative Opthalmology & Visual Science. 64:16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6acc0891ad9f41a243119f31f56f392c
https://doi.org/10.1167/iovs.64.5.16
https://doi.org/10.1167/iovs.64.5.16
Autor:
Matthew Gillings, Andrew Mastro, Xunzhi Zhang, Kelly Kiser, Jane Gu, Chao Xing, Danielle M. Robertson, W. Matthew Petroll, V. Vinod Mootha
Publikováno v:
Ophthalmology science. 3(1)
Seventy percent of Fuchs' endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the transcription factor 4 gene (Cross-sectional, single-center study.Fifty-two eyes of 29 subjects with a modified Krach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a40b502a0034cb640f50ef8190a2222
https://pubmed.ncbi.nlm.nih.gov/36275201
https://pubmed.ncbi.nlm.nih.gov/36275201
Autor:
DaNae R, Woodard, Chao, Xing, Pratyusha, Ganne, Hanquan, Liang, Avinash, Mahindrakar, Chandrasekhar, Sankurathri, John D, Hulleman, V Vinod, Mootha
Publikováno v:
Molecular Vision
Purpose Retinitis pigmentosa (RP) is an inherited retinal disorder that results in the degeneration of photoreceptor cells, ultimately leading to severe visual impairment. We characterized a consanguineous family from Southern India wherein a 25 year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f5772d396196e3c45b7644b5a3ffb190
https://pubmed.ncbi.nlm.nih.gov/33907372
https://pubmed.ncbi.nlm.nih.gov/33907372
Autor:
Zahra, Ali, Chao, Xing, Didar, Anwar, Kamel, Itani, David, Weakley, Xin, Gong, Juan M, Pascual, V Vinod, Mootha
Publikováno v:
Molecular Vision
Purpose To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. Meth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d8a8db1ad69f5edff108d4f0618255e
https://pubmed.ncbi.nlm.nih.gov/24715754
https://pubmed.ncbi.nlm.nih.gov/24715754
Publikováno v:
Cornea. 31(11)
To report a case series of pupil abnormalities consistent with features of Urrets-Zavalia syndrome (UZS) after Descemet stripping automated endothelial keratoplasty (DSAEK) for corneal edema secondary to corneal endothelial cell dysfunction.Retrospec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba298d4b66a82cc3018af0504b76a23
https://pubmed.ncbi.nlm.nih.gov/22960674
https://pubmed.ncbi.nlm.nih.gov/22960674