Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Livia S. Carvalho"'
Autor:
Adrian Westhaus, Steven S. Eamegdool, Milan Fernando, Paula Fuller-Carter, Alicia A. Brunet, Annie L. Miller, Rabab Rashwan, Maddison Knight, Maciej Daniszewski, Grace E. Lidgerwood, Alice Pébay, Alex Hewitt, Giorgia Santilli, Adrian J. Thrasher, Livia S. Carvalho, Anai Gonzalez-Cordero, Robyn V. Jamieson, Leszek Lisowski
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Adeno-associated viral (AAV) vector-mediated retinal gene therapy is an active field of both pre-clinical as well as clinical research. As with other gene therapy clinical targets, novel bioengineered AAV variants developed by directed evolu
Externí odkaz:
https://doaj.org/article/c01c7ea263f948d68832145c2e5bdb19
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Elucidation of the cellular changes that occur in degenerating photoreceptors of people with inherited retinal diseases (IRDs) has been a focus for many research teams, leading to numerous theories on how these changes affect the cell death process.
Externí odkaz:
https://doaj.org/article/fdc9f5d064774a6c930c2836e2e542f2
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
The electroretinogram (ERG) measures the electrical activity of retinal neurons and glial cells in response to a light stimulus. Amongst other techniques, clinicians utilize the ERG to diagnose various eye diseases, including inherited conditions suc
Externí odkaz:
https://doaj.org/article/884e0c3effae482aa41a2d9cfe3ee118
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 14 (2020)
Usher syndrome is a genetic disorder causing neurosensory hearing loss and blindness from retinitis pigmentosa (RP). Adaptive techniques such as braille, digital and optical magnifiers, mobility training, cochlear implants, or other assistive listeni
Externí odkaz:
https://doaj.org/article/737e353ad3bf40cbb284d379db4283af
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 2, p 726 (2022)
Inherited retinal diseases (IRDs) are a leading cause of blindness. To date, 260 disease-causing genes have been identified, but there is currently a lack of available and effective treatment options. Cone photoreceptors are responsible for daylight
Externí odkaz:
https://doaj.org/article/36af920f17a545759413cc13c8c8202a
Autor:
Xiaotian Jiang, Rabab Rashwan, Valentina Voigt, Jeanne Nerbonne, David M. Hunt, Livia S. Carvalho
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4877 (2021)
Cone Dystrophy with Supernormal Rod Response (CDSRR) is a rare autosomal recessive disorder leading to severe visual impairment in humans, but little is known about its unique pathophysiology. We have previously shown that CDSRR is caused by mutation
Externí odkaz:
https://doaj.org/article/7abb8e0695e74020a6e557f221cd228a
Autor:
Eric Zinn, Simon Pacouret, Vadim Khaychuk, Heikki T. Turunen, Livia S. Carvalho, Eva Andres-Mateos, Samiksha Shah, Rajani Shelke, Anna C. Maurer, Eva Plovie, Ru Xiao, Luk H. Vandenberghe
Publikováno v:
Cell Reports, Vol 12, Iss 6, Pp 1056-1068 (2015)
Adeno-associated virus (AAV) vectors have emerged as a gene-delivery platform with demonstrated safety and efficacy in a handful of clinical trials for monogenic disorders. However, limitations of the current generation vectors often prevent broader
Externí odkaz:
https://doaj.org/article/9941e6a1cc964651b74a08eb30bc49f9
Autor:
Livia S. Carvalho, Heikki T. Turunen, Sarah J. Wassmer, María V. Luna-Velez, Ru Xiao, Jean Bennett, Luk H. Vandenberghe
Publikováno v:
Frontiers in Neuroscience, Vol 11 (2017)
Retinal gene therapy has come a long way in the last few decades and the development and improvement of new gene delivery technologies has been exponential. The recent promising results from the first clinical trials for inherited retinal degeneratio
Externí odkaz:
https://doaj.org/article/7ab553c790b7459ca944b099def083d5
Autor:
David M. Hunt, Livia S. Carvalho, Daniel M. A. Pessoa, Jessica K. Mountford, Wayne I. L. Davies
Publikováno v:
Frontiers in Ecology and Evolution, Vol 5 (2017)
Primate color vision is based on two to three cone types in the retina, each expressing a different class of visual pigment, making them the only mammals that possess trichromacy. These pigment classes are the short wavelength-sensitive (SWS1) pigmen
Externí odkaz:
https://doaj.org/article/823dc44dcef94eff895bc791028dc7b1
Publikováno v:
BioTechniques, Vol 43, Iss 6, Pp 785-789 (2007)
We describe a rapid and cost-effective technique for the in vitro removal of introns and other unwanted regions from genomic DNA to generate a single sequence of continuous coding capacity, where tissues required for RNA extraction and complementary
Externí odkaz:
https://doaj.org/article/b378cf302bae46d9bd1168aafe196966