Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Katherine E. Uyhazi"'
Autor:
Jacob K. Sterling, Modupe O. Adetunji, Samyuktha Guttha, Albert R. Bargoud, Katherine E. Uyhazi, Ahmara G. Ross, Joshua L. Dunaief, Qi N. Cui
Publikováno v:
Cell Reports, Vol 33, Iss 5, Pp 108271- (2020)
Summary: Glaucoma is the leading cause of irreversible blindness and is characterized by the death of retinal ganglion cells (RGCs). Recent studies have implicated pro-inflammatory microglia, macrophages, and A1 astrocytes in the pathogenesis of neur
Externí odkaz:
https://doaj.org/article/75de906bdc0e4cc7bbdb65b3f0a09636
Autor:
Tomas S. Aleman, Erin C. O’Neil, Katherine E. Uyhazi, Kelsey M. Parchinski, Arlene J. Santos, Mariejel L. Weber, Sherice P. Colclough, Andrew S. Billek, Xiaosong Zhu, Bart P. Leroy, Emma C. Bedoukian
Publikováno v:
Ophthalmic Genetics. 43:824-833
Autor:
Emma Bedoukian, Katherine E. Uyhazi, Leona W. Serrano, Jessica I. W. Morgan, Robert F. Cooper, Michael J. Ammar, Priyanka Kumar, Kurt T. Scavelli, Ilaina D. Edelstein, Tomas S. Aleman, Grace Vergilio
Publikováno v:
Retin Cases Brief Rep
PURPOSE: To describe in detail the phenotype of a patient with enhanced S-cone syndrome. METHODS: We describe a 13-year-old boy who presented with blurred vision, vitreous cells, cystoid macular edema refractory to steroid treatment, and a negative u
Autor:
Jose S. Pulido, Tomas S. Aleman, Joseph W. Rossano, Katherine E. Uyhazi, Isabella A. Aleman, Erin C. O’Neil, Keli O'Connor
Publikováno v:
Retinal casesbrief reports. 16(6)
To describe in detail the retinal phenotype of LAMP2-associated Danon disease.Three LAMP2-positive patients from two unrelated families were studied with spectral-domain optical coherence tomography and with short-wavelength and near-infrared fundus
Autor:
Winifred Mak, Vincenzo A. Gennarino, Nicola de Prisco, Scott D. Weatherbee, Katherine E. Uyhazi, Na Liu, Hongying Qi, Yiying Yang, Haifan Lin, Xiaoling Song, Xiao A. Huang
Publikováno v:
Proc Natl Acad Sci U S A
Gene regulation in embryonic stem cells (ESCs) has been extensively studied at the epigenetic-transcriptional level, but not at the posttranscriptional level. Pumilio (Pum) proteins are among the few known translational regulators required for stem-c
Autor:
Katherine E. Uyhazi, Jean Bennett
Publikováno v:
J Clin Invest
Katherine Uyhazi and renowned gene therapy pioneer Jean Bennett share their perspective on the 2020 Nobel Prize in Chemistry awarded to Emmanuelle Charpentier and Jennifer Doudna for their discovery of the CRISPR/Cas9 genetic scissors that have revol
Autor:
Ahmara G. Ross, Katherine E. Uyhazi, Samyuktha Guttha, Albert R. Bargoud, Modupe O Adetunji, Qi N. Cui, Joshua L. Dunaief, Jacob Sterling
SUMMARYGlaucoma is the leading cause of irreversible blindness worldwide and is characterized by the death of retinal ganglion cells. Reduction of intraocular pressure (IOP) is the only therapeutic mechanism available to slow disease progression. How
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ba1bcf8575da8fdd897866a8541a7c2
https://doi.org/10.1101/2020.06.18.146720
https://doi.org/10.1101/2020.06.18.146720
Autor:
Samyuktha Guttha, Ahmara G. Ross, Albert Bargoud, Joshua L. Dunaief, Katherine E. Uyhazi, Qi N. Cui, Jacob Sterling, Modupe O Adetunji
Publikováno v:
Cell reports
Cell Reports, Vol 33, Iss 5, Pp 108271-(2020)
Cell Reports, Vol 33, Iss 5, Pp 108271-(2020)
SUMMARY Glaucoma is the leading cause of irreversible blindness and is characterized by the death of retinal ganglion cells (RGCs). Recent studies have implicated pro-inflammatory microglia, macrophages, and A1 astrocytes in the pathogenesis of neuro
Autor:
Ivan Shpylchak, Vidyullatha Vasireddy, Katherine E. Uyhazi, Denise J. Pearson, Zhangyong Wei, Jean Bennett, Lanfranco Leo, Leona W. Serrano, Puya Aravand, Tomas S. Aleman, Brent A. Bell, Jennifer Pham
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose To determine the therapeutic window for gene augmentation for Leber congenital amaurosis (LCA) associated with mutations in LCA5. Methods Five patients (ages 6-31) with LCA and biallelic LCA5 mutations underwent an ophthalmic examination incl
Publikováno v:
Ophthalmic Genetics. 39:399-404
To describe early structural and functional retinal changes in a patient with Cohen syndrome.A 13-month-old Caucasian girl of Irish and Spanish ancestry was noted to have micrognathia and laryngomalacia at birth, which prompted a genetic evaluation t