Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jason S Salvo"'
Publikováno v:
PLoS Computational Biology, Vol 10, Iss 5, p e1003636 (2014)
Eukaryotic transmembrane helical (TMH) proteins perform a wide diversity of critical cellular functions, but remain structurally largely uncharacterized and their high-resolution structure prediction is currently hindered by the lack of close structu
Externí odkaz:
https://doaj.org/article/bac6d73fc45e41c390d0a3271b23ea8c
Autor:
Yumei Li, Rui Chen, Huanan Ren, Irma Lopez, Feng Wang, Hui Li, Ayesha Khan, Allison Dorfman, Violet Gelowani, Huajin Li, Ruifang Sui, Jason S. Salvo, Robert K. Koenekoop, Xia Wang, Sorath Noorani Siddiqui, Hui Wang, Keqing Wang, Jacques Zaneveld
Publikováno v:
Genetics in Medicine. 17:262-270
Stargardt macular dystrophy (STGD) results in early central vision loss. We sought to explain the genetic cause of STGD in a cohort of 88 patients from three different cultural backgrounds. Next-generation sequencing using a novel capture panel was u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50e3cb4efb03065eeb49fc46d884e7a6
https://doi.org/10.1038/gim.2014.174
https://doi.org/10.1038/gim.2014.174
Autor:
Brendan Lee, Francis H. Gannon, Lichun Jiang, Terry Bertin, Rui Chen, Lawrence A. Donehower, Pulivarthi H. Rao, Jason S. Salvo, Huan-Chang Zeng, Jianning Tao, Ming Ming Jiang, Brian Dawson
Publikováno v:
Cancer cell. 26(3)
SummaryOsteogenic sarcoma (OS) is a deadly skeletal malignancy whose cause is unknown. We report here a mouse model of OS based on conditional expression of the intracellular domain of Notch1 (NICD). Expression of the NICD in immature osteoblasts was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::129c9160578f8aa1ac663c7ccf8a7150
https://pubmed.ncbi.nlm.nih.gov/25203324
https://pubmed.ncbi.nlm.nih.gov/25203324
Publikováno v:
PLoS Computational Biology
PLoS Computational Biology, Vol 10, Iss 5, p e1003636 (2014)
PLoS Computational Biology, Vol 10, Iss 5, p e1003636 (2014)
Eukaryotic transmembrane helical (TMH) proteins perform a wide diversity of critical cellular functions, but remain structurally largely uncharacterized and their high-resolution structure prediction is currently hindered by the lack of close structu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cac1d00bb1a7c6b6a7459eca4f9f4d0
https://pubmed.ncbi.nlm.nih.gov/24854015
https://pubmed.ncbi.nlm.nih.gov/24854015
Autor:
Qing Fu, Robert K. Koenekoop, Cindy Wen, Jacques Zaneveld, Beatriz Buentello-Volante, Giuliana Silvestri, Sara J. Bowne, Hongrong Luo, Louise Mao, Vafa Keser, John R. Heckenlively, Jacqueline Pei, Keqing Wang, Juan Carlos Zenteno, Huanan Ren, Sorath Noorani Siddiqui, David Simpson, Ayesha Khan, Ruifang Sui, Jason S. Salvo, Henry Ferreyra, Ling Zhao, David G. Birch, Ken Flagg, Duy H. Nguyen, Stephen P. Daiger, Yumei Li, Raul Ayala-Ramirez, Kari Branham, Dianna K. Wheaton, Xia Wang, Vincent Sun, Kang Zhang, Lori S. Sullivan, Rui Chen, Irma Lopez, Hui Wang, Han Fang Tuan, Raheel Qamar, Feng Wang
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information is invaluable for an accurate clinical diagnosis of RP due to its high genetic and clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f102260f4655a44c63f2b7bd26e6242e
https://europepmc.org/articles/PMC3945441/
https://europepmc.org/articles/PMC3945441/
Autor:
Ayesha Khan, Robert K. Koenekoop, Jacques Zaneveld, Vafa Keser, Alessandro Iannaccone, Stephanie Bowles, Irma Lopez, Feng Wang, Jason S. Salvo, Keqing Wang, Sorath Noorani Siddiqui, John R. Heckenlively, Gerald A. Fishman, Han Fang Tuan, Samuel G. Jacobson, Hui Wang, Xia Wang, Yumei Li, David G. Birch, Dianna K H Wheaton, Vincent Sun, Huanan Ren, Elias I. Traboulsi, Rui Chen
Background Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An accurate molecular diagnosis can refine the clinical diagnosis and allow gene specif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f410a0efe7c0a0ec3200d2c67957da3
https://europepmc.org/articles/PMC3932025/
https://europepmc.org/articles/PMC3932025/
Autor:
Li Zhao, Xia Wang, Ruifang Sui, Fei Xu, Yumei Li, Rui Chen, Huanan Ren, Jacques Zaneveld, Robert K. Koenekoop, Han-Fang Tuan, Vafa Keser, Irma Lopez, Hui Wang, Feng Wang, Keqing Wang, Jason S. Salvo, Qing Fu
Publikováno v:
Investigative ophthalmologyvisual science. 54(6)
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease; therefore, an accurate molecular diagnosis is essential for appropriate disease treatment and family planning. The prevalence of RP in China had been reported at 1 in 3800, resultin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff619182213ee159b69a552aaa9cbf7c
https://pubmed.ncbi.nlm.nih.gov/23661369
https://pubmed.ncbi.nlm.nih.gov/23661369