Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Daniel Navarro-Gomez"'
Autor:
Samaneh Davoudi, Daniel Navarro-Gomez, Lishuang Shen, Cindy Ung, Aiai Ren, Lynn Sullivan, Mindy Kwong, Maria Janessian, Jason Comander, Xiaowu Gai, Ann-Marie Lobo, George N. Papaliodis, Lucia Sobrin
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 3, Iss C, Pp 39-42 (2016)
Purpose: Identifying genetic risk factors for developing sarcoidosis-associated uveitis could provide insights into its pathogenesis which is poorly understood. We determine if variants in NOD2 confer an increased risk of developing uveitis in adults
Externí odkaz:
https://doaj.org/article/b340593f461049e39bf30839f2284ac3
Autor:
Jason Comander, Carol Weigel-DiFranco, Matthew Maher, Emily Place, Aliete Wan, Shyana Harper, Michael A. Sandberg, Daniel Navarro-Gomez, Eric A. Pierce
Publikováno v:
Genes, Vol 8, Iss 10, p 256 (2017)
Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral retina first and tends to spare the far periphery. This study was performed to further define the genetic basis of this phenotype. We identified a cohort
Externí odkaz:
https://doaj.org/article/c5e8db1edba34e58bdbffee5531ba3d9
Autor:
Christine D. Palmer, Amy R. Rappaport, Matthew J. Davis, Meghan G. Hart, Ciaran D. Scallan, Sue-Jean Hong, Leonid Gitlin, Lauren D. Kraemer, Sonia Kounlavouth, Aaron Yang, Lindsey Smith, Desiree Schenk, Mojca Skoberne, Kiara Taquechel, Martina Marrali, Jason R. Jaroslavsky, Charmaine N. Nganje, Elizabeth Maloney, Rita Zhou, Daniel Navarro-Gomez, Adrienne C. Greene, Gijsbert Grotenbreg, Renee Greer, Wade Blair, Minh Duc Cao, Shawn Chan, Kyounghwa Bae, Alexander I. Spira, Sameek Roychowdhury, David P. Carbone, Brian S. Henick, Charles G. Drake, Benjamin J. Solomon, Daniel H. Ahn, Amit Mahipal, Steve B. Maron, Benny Johnson, Raphael Rousseau, Roman Yelensky, Chih-Yi Liao, Daniel V. T. Catenacci, Andrew Allen, Andrew R. Ferguson, Karin Jooss
Publikováno v:
Nature medicine. 28(8)
Checkpoint inhibitor (CPI) therapies provide limited benefit to patients with tumors of low immune reactivity. T cell-inducing vaccines hold promise to exert long-lasting disease control in combination with CPI therapy. Safety, tolerability and recom
Autor:
Emily Place, Benyam Kinde, Matthew Maher, Eric A. Pierce, Daniel Navarro-Gomez, Erin Zampaglione, Farzad Jamshidi, Caitlin Finn, J. Alex Mazzone, Sherwin Nassiri, Jason Comander, Kinga M. Bujakowska, Dana Schlegel
Publikováno v:
Genetics in Medicine
PurposeCurrent sequencing strategies can genetically solve 55-60% of inherited retinal degeneration (IRD) cases, despite recent progress in sequencing. This can partially be attributed to elusive pathogenic variants (PVs) in known IRD genes, includin
Autor:
Elise Valkanas, Kari Branham, Eric A. Pierce, Daniel Navarro-Gomez, Kinga M. Bujakowska, Timothy J. Cherry, Farzad Jamshidi, Emily Place, Daniel G. MacArthur, Monkol Lek, Sudeep Mehrotra, Mathew Maher
Publikováno v:
Genetics in Medicine. 21:694-704
With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical decision-making. Yet the genetic cause of disease cannot be identified using exon-based sequencing for a signif
Autor:
Desiree Schenck, Rita Zhou, Alexis Mantilla, Oliver Spiro, Taylor Patch, Adrienne Johnson, Daniel Navarro Gomez, Brian S. Henick, Chih-Yi Liao, Sameek Roychowdhury, Steve Maron, Benjamin Solomon, Alexander I. Spira, Daniel V. Catenacci, Andrew R. Fergusson, Raphael F. Rousseau, Karin Jooss, Matthew J. Davis
Publikováno v:
Cancer Research. 82:1238-1238
Neoantigen directed immunotherapy holds promise to increase the likelihood of patients with solid tumor devoid of immune infiltration benefiting from immune checkpoint immunotherapy (CPI). A heterologous prime-boost vaccination approach consisting of
High-throughput transcriptome sequencing has become a powerful tool in the study of human diseases. Identification of causal mechanisms may entail analysis of differential gene expression (DGE), differential transcript/isoform expression (DTE) and id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44b5f629a5a3c88439750c13d219ae00
https://doi.org/10.1101/2020.08.05.238295
https://doi.org/10.1101/2020.08.05.238295
Autor:
Shizuo Mukai, Kevin Ferenchak, Rachel M. Huckfeldt, Erin Zampaglione, Naomi E Wagner, Hilary A Scott, Emily Place, Kinga M. Bujakowska, Katherine R. Chao, Stephanie DiTroia, Eric A. Pierce, Daniel Navarro-Gomez
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing
Autor:
Cindy Ung, Heather Hancock, Leo A. Kim, Angie V. Sanchez, Suzanne Hoadley, Lucia Sobrin, Mark Consugar, Tina Ahmadi, Vinay A Shah, Daniel Navarro-Gomez, Samaneh Davoudi, Xiaowu Gai, Ching J. Chen, Joseph F. Arboleda-Velasquez, Alan D. Penman, Lishuang Shen, Carlos Restrepo
Publikováno v:
Vision Research. 139:168-176
Rare or novel gene variants in patients with proliferative diabetic retinopathy may contribute to disease development. We performed whole exome sequencing (WES) on patients at the phenotypic extremes of diabetic retinal complications: 57 patients dia
Autor:
Xiaowu Gai, Joseph A. White, Hongbo Xie, Emily Place, Emma Bedoukian, Rosario Fernandez-Godino, Eric A. Pierce, Daniel Navarro-Gomez, Kinga M. Bujakowska, Bart P. Leroy, Mark Consugar, Xiaosong Zhu
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55–60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are no