Zobrazeno 1 - 10
of 276
pro vyhledávání: '"Artur V. Cideciyan"'
Autor:
Raghavi Sudharsan, Jennifer Kwok, Malgorzata Swider, Alexander Sumaroka, Gustavo D. Aguirre, Artur V. Cideciyan, William A. Beltran
Publikováno v:
Cell Death and Disease, Vol 15, Iss 9, Pp 1-10 (2024)
Abstract PRLΔE1, a retina-specific isoform of prolactin, is expressed in multiple and diverse forms of canine inherited retinal degeneration (IRD). We find that while PRLΔE1 expression in rods is not associated with the initial phase of disease cha
Externí odkaz:
https://doaj.org/article/e37984bba17c4ae580d9b5b917c7b0d9
Autor:
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun K. Krishnan, Rebecca Sheplock, Sanford L. Boye, Alexander M. Dizhoor, Shannon E. Boye
Publikováno v:
iScience, Vol 27, Iss 11, Pp 111048- (2024)
Externí odkaz:
https://doaj.org/article/d871dc2a0b694da9942e276b248c9408
Autor:
Devin C. Cohen, Alexander Sumaroka, Joshua A. Paulos, Tara C. Mitchell, Arlene J. Santos, Erin C. O'Neil, Emma C. Bedoukian, Grazyna Adamus, Artur V. Cideciyan, Tomas S. Aleman
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102098- (2024)
Purpose: To describe the retinal phenotype of an unusual case of anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with the phenotype of TRPM1-associated Congenital Stationary
Externí odkaz:
https://doaj.org/article/b20cab0415ad4cbdb0b901937761b9df
Autor:
Artur V. Cideciyan, Alejandro J. Roman, Raymond L. Warner, Alexander Sumaroka, Vivian Wu, Yu Y. Jiang, Malgorzata Swider, Alexandra V. Garafalo, Iryna Viarbitskaya, Robert C. Russell, Susanne Kohl, Bernd Wissinger, Caterina Ripamonti, John L. Barbur, Michael Bach, Joseph Carroll, Jessica I. W. Morgan, Tomas S. Aleman
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10639 (2024)
L-cone opsin expression by gene therapy is a promising treatment for blue cone monochromacy (BCM) caused by congenital lack of long- and middle-wavelength-sensitive (L/M) cone function. Eight patients with BCM and confirmed pathogenic variants at the
Externí odkaz:
https://doaj.org/article/34832f17630c493e803a7a454e223355
Autor:
Artur V. Cideciyan, Samuel G. Jacobson, Allen C. Ho, Malgorzata Swider, Alexander Sumaroka, Alejandro J. Roman, Vivian Wu, Robert C. Russell, Iryna Viarbitskaya, Alexandra V. Garafalo, Michael R. Schwartz, Aniz Girach
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 32, Iss , Pp 101873- (2023)
Purpose: An intravitreally injected antisense oligonucleotide, sepofarsen, was designed to modulate splicing within retinas of patients with severe vision loss due to deep intronic c.2991 + 1655A > G variant in the CEP290 gene. A previous report show
Externí odkaz:
https://doaj.org/article/f39e007917e243f9b76ef7bb46b524bd
Autor:
Elisha Monson, Artur V. Cideciyan, Alejandro J. Roman, Alexander Sumaroka, Malgorzata Swider, Vivian Wu, Iryna Viarbitskaya, Samuel G. Jacobson, Steven J. Fliesler, Steven J. Pittler
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1004 (2024)
Modern advances in disease genetics have uncovered numerous modifier genes that play a role in the severity of disease expression. One such class of genetic conditions is known as inherited retinal degenerations (IRDs), a collection of retinal degene
Externí odkaz:
https://doaj.org/article/c09cc551fc9a48c5bf40e3681aefeacc
Autor:
Alejandro J. Roman, Artur V. Cideciyan, Vivian Wu, Abraham A. Mascio, Arun K. Krishnan, Alexandra V. Garafalo, Samuel G. Jacobson
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Inherited retinal degenerations (IRDs) affect daylight and night vision to different degrees. In the current work, we devise a method to quantify mobility under dark-adapted conditions in patients with severe childhood blindness d
Externí odkaz:
https://doaj.org/article/4f566c28bcc847919134b0de297a8186
Autor:
Samuel G. Jacobson, Artur V. Cideciyan, Allen C. Ho, Alejandro J. Roman, Vivian Wu, Alexandra V. Garafalo, Alexander Sumaroka, Arun K. Krishnan, Malgorzata Swider, Abraham A. Mascio, Christine N. Kay, Dan Yoon, Kenji P. Fujita, Sanford L. Boye, Igor V. Peshenko, Alexander M. Dizhoor, Shannon E. Boye
Publikováno v:
iScience, Vol 25, Iss 10, Pp 105274- (2022)
Summary: Signaling of vision to the brain starts with the retinal phototransduction cascade which converts visible light from the environment into chemical changes. Vision impairment results when mutations inactivate proteins of the phototransduction
Externí odkaz:
https://doaj.org/article/00767dff06174533bc77d98fb800d731
Autor:
Artur V. Cideciyan, PhD, Samuel G. Jacobson, MD, PhD, Allen C. Ho, MD, Arun K. Krishnan, OD, PhD, Alejandro J. Roman, MS, Alexandra V. Garafalo, MS, Vivian Wu, MS, Malgorzata Swider, PhD, Alexander Sumaroka, PhD, Caroline Van Cauwenbergh, PhD, Stephen R. Russell, MD, Arlene V. Drack, MD, Bart P. Leroy, MD, PhD, Michael R. Schwartz, MS, Aniz Girach, MD
Publikováno v:
Ophthalmology Science, Vol 2, Iss 2, Pp 100133- (2022)
Purpose: To understand consequences of reconstituting cone photoreceptor function in congenital binocular blindness resulting from mutations in the centrosomal protein 290 (CEP290) gene. Design: Phase 1b/2 open-label, multicenter, multiple-dose, dose
Externí odkaz:
https://doaj.org/article/0e7a0cea43364b59973a7b08801fbbad
Autor:
Rinki Ratnapriya, Samuel G. Jacobson, Artur V. Cideciyan, Milton A. English, Alejandro J. Roman, Alexander Sumaroka, Rebecca Sheplock, Anand Swaroop
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Despite major progress in the discovery of causative genes, many individuals and families with inherited retinal degenerations (IRDs) remain without a molecular diagnosis. We applied whole exome sequencing to identify the genetic cause in a family wi
Externí odkaz:
https://doaj.org/article/2abc83bf3b3c4128ac69c5a994191bc9