Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Karina E Guziewicz"'
Autor:
Naoto Tanaka, Emily V Dutrow, Keiko Miyadera, Lucie Delemotte, Christopher M MacDermaid, Shelby L Reinstein, William R Crumley, Christopher J Dixon, Margret L Casal, Michael L Klein, Gustavo D Aguirre, Jacqueline C Tanaka, Karina E Guziewicz
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138943 (2015)
Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia
Externí odkaz:
https://doaj.org/article/27ed9910b74a4aa4be0a7bf153d8b65a
Autor:
William A Beltran, Artur V Cideciyan, Karina E Guziewicz, Simone Iwabe, Malgorzata Swider, Erin M Scott, Svetlana V Savina, Gordon Ruthel, Frank Stefano, Lingli Zhang, Richard Zorger, Alexander Sumaroka, Samuel G Jacobson, Gustavo D Aguirre
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90390 (2014)
Retinal areas of specialization confer vertebrates with the ability to scrutinize corresponding regions of their visual field with greater resolution. A highly specialized area found in haplorhine primates (including humans) is the fovea centralis wh
Externí odkaz:
https://doaj.org/article/eababb70efc74404b91b254c07a5ae04
Autor:
Karina E Guziewicz, Barbara Zangerl, András M Komáromy, Simone Iwabe, Vincent A Chiodo, Sanford L Boye, William W Hauswirth, William A Beltran, Gustavo D Aguirre
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e75666 (2013)
Mutations in the BEST1 gene constitute an underlying cause of juvenile macular dystrophies, a group of retinal disorders commonly referred to as bestrophinopathies and usually diagnosed in early childhood or adolescence. The disease primarily affects
Externí odkaz:
https://doaj.org/article/3c0034103a8540d0a6f814e9b2d257d7
Autor:
Artur V. Cideciyan, Samuel G. Jacobson, Malgorzata Swider, Alexander Sumaroka, Rebecca Sheplock, Arun K. Krishnan, Alexandra V. Garafalo, Karina E. Guziewicz, Gustavo D. Aguirre, William A. Beltran, Elise Heon
Publikováno v:
Investigative ophthalmologyvisual science. 63(13)
The purpose of this study was to evaluate rod and cone function and outer retinal structure within macular lesions, and surrounding extralesional areas of patients with autosomal dominant Best vitelliform macular dystrophy caused by BEST1 mutations.S
Autor:
Artur V, Cideciyan, Samuel G, Jacobson, Alexander, Sumaroka, Malgorzata, Swider, Arun K, Krishnan, Rebecca, Sheplock, Alexandra V, Garafalo, Karina E, Guziewicz, Gustavo D, Aguirre, William A, Beltran, Yoshitsugu, Matsui, Mineo, Kondo, Elise, Heon
Publikováno v:
Vision Research. 203:108157
The only approved retinal gene therapy is for biallelic RPE65 mutations which cause a recessive retinopathy with a primary molecular defect located at the retinal pigment epithelium (RPE). For a distinct recessive RPE disease caused by biallelic BEST
Autor:
Samuel G. Jacobson, William W. Hauswirth, Gustavo D. Aguirre, Elise Héon, Brian T. Kendrick, Alexander Sumaroka, Simone Iwabe, Vince A. Chiodo, András M. Komáromy, Valerie L. Dufour, Gordon Ruthel, Malgorzata Swider, William A. Beltran, Artur V. Cideciyan, Karina E Guziewicz
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance One of the most common forms of monogenic macular degeneration worldwide is caused by dominant or recessive bestrophinopathies associated with mutations in the BEST1 gene. Disease expression is known to start with a retina-wide electroph
Autor:
Karina E Guziewicz, Eric M. Clark, Gustavo D. Aguirre, Jianfeng Lu, Ruchira Singh, David M. Gamm, Molly A. Smith, J. S. Meyer, Amelia D. Verhoeven, Molly Wilson, David Kuai
Publikováno v:
Molecular Therapy. 23:1700-1711
Degradation of photoreceptor outer segments (POS) by retinal pigment epithelium (RPE) is essential for vision, and studies have implicated altered POS processing in the pathogenesis of some retinal degenerative diseases. Consistent with this concept,
Autor:
Kathleen Boesze-Battaglia, Gustavo D. Aguirre, Anuradha Dhingra, Valerie L. Dufour, Emily McTish, Karina E Guziewicz, Kathryn Zorych
Publikováno v:
Retinal Degenerative Diseases ISBN: 9783319754017
Canine bestrophinopathy (cBest) is an important translational model for BEST1-associated maculopathies in man that recapitulates the broad spectrum of clinical and molecular disease aspects observed in patients. Both human and canine bestrophinopathi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5c268718fd526e47228d3688810d43c
https://doi.org/10.1007/978-3-319-75402-4_38
https://doi.org/10.1007/978-3-319-75402-4_38
Autor:
Emily V. Dutrow, Anuradha Dhingra, David M. Gamm, Nestor Mas Gomez, Kathryn Zorych, Robert F. Mullins, Kathleen Boesze-Battaglia, Karina E Guziewicz, Divya Sinha, Gustavo D. Aguirre, Edwin M. Stone
Bestrophinopathies, one of the most common forms of inherited macular degenerations, are caused by mutations in the BEST1 gene expressed in the retinal pigment epithelium (RPE). Both human and canine BEST1-linked maculopathies are characterized by ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dee3c03658d964d9888c31cc88158b3
https://europepmc.org/articles/PMC5441932/
https://europepmc.org/articles/PMC5441932/
Autor:
Jose S. Pulido, Karina E Guziewicz, Lihua Y. Marmorstein, C. Justin Lee, Alan D. Marmorstein, Ravi C. Kalathur, Adiv A. Johnson
Publikováno v:
Progress in retinal and eye research. 58
Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the "bestrophinopathies". These five associated diseases are: Best vitelliform macular d