Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Joseph C. Giacalone"'
Autor:
Kelly Mulfaul, Joseph C. Giacalone, Andrew P. Voigt, Megan J. Riker, Dalyz Ochoa, Ian C. Han, Edwin M. Stone, Robert F. Mullins, Budd A. Tucker
Publikováno v:
Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-10 (2020)
Abstract Background Endothelial cells (ECs) are essential regulators of the vasculature, lining arteries, veins, and capillary beds. While all ECs share a number of structural and molecular features, heterogeneity exists depending on their resident t
Externí odkaz:
https://doaj.org/article/ab5227255d2347389d44837c07da74e1
Autor:
Nathaniel K. Mullin, Todd E. Scheetz, Miles J. Flamme-Wiese, Edwin M. Stone, Budd A. Tucker, Kelly Mulfaul, Robert F. Mullins, Joseph C. Giacalone, Andrew P. Voigt
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance The retinal pigment epithelium and the choroid are complex tissues whose dysfunction can lead to irreversible visual loss. In this study, single-cell RNA sequencing of both of these tissues was performed to characterize gene expression p
Autor:
Kelly Mulfaul, Nathaniel K Mullin, Joseph C Giacalone, Andrew P Voigt, Melette DeVore, Edwin M Stone, Budd A Tucker, Robert F Mullins
Publikováno v:
J Pathol
Activation of the alternative complement pathway is an initiating event in the pathology of age-related macular degeneration (AMD). Unchecked complement activation leads to the formation of a pro-lytic pore, the membrane attack complex (MAC). MAC dep
Autor:
Val C. Sheffield, Ian C. Han, Jeaneen L. Andorf, Erin R Burnight, Austin J Reutzel, Edwin M. Stone, Malia M. Collins, Budd A. Tucker, Robert F. Mullins, Qihong Zhang, Joseph C. Giacalone, Dalyz Ochoa
Publikováno v:
Human Gene Therapy. 30:967-974
In a screen of 1,000 consecutively ascertained families, we recently found that mutations in the gene RPGR are the third most common cause of all inherited retinal disease. As the two most frequent disease-causing genes, ABCA4 and USH2A, are far too
Autor:
Robert F. Mullins, Austin J Reutzel, Matthew J. Miller, Joseph C. Giacalone, S. Scott Whitmore, Budd A. Tucker, Edwin M. Stone, Dalyz Ochoa, Grefachew Workalemahu
Publikováno v:
Microvasc Res
Age-related macular degeneration (AMD) is a common cause of blindness worldwide. While recent studies have revealed that the loss of choroidal endothelial cells (ChECs) is critical to the disease pathogenesis of dry AMD, in vitro studies are needed t
Autor:
Edwin M. Stone, Budd A. Tucker, Qihong Zhang, Charles Searby, Val C. Sheffield, Joseph C. Giacalone
Publikováno v:
Proceedings of the National Academy of Sciences. 116:1353-1360
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease with severe vision impairment leading to blindness. About 10–15% of RP cases are caused by mutations in the RPGR gene, with RPGR mutations accounting for 70% of X-linked RP case
Autor:
Edwin M. Stone, Dalyz Ochoa, Megan J Riker, Robert F. Mullins, Ian C. Han, Kelly Mulfaul, Joseph C. Giacalone, Budd A. Tucker, Andrew P. Voigt
Publikováno v:
Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-10 (2020)
Stem Cell Research & Therapy
Stem Cell Research & Therapy
Background Endothelial cells (ECs) are essential regulators of the vasculature, lining arteries, veins, and capillary beds. While all ECs share a number of structural and molecular features, heterogeneity exists depending on their resident tissue. EC
Autor:
Todd Sulchek, Nicholas Stone, Srinivas Hanasoge, Joseph C. Giacalone, Jessica A. Cooke, Budd A. Tucker, Andrew P. Voigt, Robert F. Mullins
Publikováno v:
Experimental eye research. 199
Inherited retinal degenerative disorders such as retinitis pigmentosa and Usher syndrome are characterized by progressive death of photoreceptor cells. To restore vision to patients blinded by these diseases, a stem cell-based photoreceptor cell repl
Autor:
Luke A Wiley, Erin R Burnight, Budd A. Tucker, Kristan S. Worthington, Laura R. Bohrer, Kathleen R. Chirco, Jessica R. Thompson, Robert F. Mullins, Jessica A. Cooke, Arlene V. Drack, Joseph C. Giacalone, Edwin M. Stone, John H. Fingert
Publikováno v:
Prog Retin Eye Res
Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a major cause of irreversible blindness worldwide. Single gene defects cause the majority of these retinal dystrophies. Gene augmentation holds great promise
Autor:
Todd E. Scheetz, S. Scott Whitmore, Edwin M. Stone, Robert F. Mullins, Jeaneen L. Andorf, Val C. Sheffield, Terry A. Braun, Budd A. Tucker, Joseph C. Giacalone, Adam P. DeLuca, Luan M. Streb
Publikováno v:
Ophthalmology. 124:1314-1331
Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive families seen by a single clinician. Design Retrospective series. Participants One thousand con