Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Vafa Keser"'
Autor:
Vafa Keser, Pierre Lachapelle, J.-F. Boisclair Lachance, Sabrina Shameen Alam, Loydie A. Jerome-Majewska, Jeffrey A. Golden, S. Lv, Amanpreet Kaur, Z. T. Fang, Eleonora Scarlata, Cristian O'Flaherty, Youngshin Lim
Synaptosomal-associated protein 29 (SNAP29) is a member of the SNARE family of proteins involved in maintenance of various intracellular protein trafficking pathways. SNAP29 maps to the 22q11.2 region and is deleted in 90% of patients with 22q11.2 de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3455d821fc88d58e7ed8d689eeb79cb
Autor:
Jacek Majewski, Huanan Ren, Vafa Keser, Shen Li, Jeannie Mui, Nancy Braverman, Hojatollah Vali, Jeremy Schwartzentruber, James Dixon, Sang Ni Cao, Kelly Sears, Naveen Mysore, Robert K. Koenekoop, Sorath Noorani Siddiqui, Alice Yang Zhang, Jamie Koenekoop, Irma Lopez-Solache, Ayesha Khan
Publikováno v:
Investigative ophthalmologyvisual science. 56(13)
Choroideremia (CHM) (OMIM 303100) is a relatively common X-linked retinal degeneration first described by Mauthner in 18721 and was incorrectly thought to be a stationary and developmental disorder.2 Currently, it is known as a progressive X-linked r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2d78aecbd695aa940d0f57bfe6dcf12
https://pubmed.ncbi.nlm.nih.gov/26720468
https://pubmed.ncbi.nlm.nih.gov/26720468
Autor:
Chris F. Inglehearn, Huidan Xu, Rui Chen, Hussain Jafri, Yasmin Rashid, Moin Mohamed, Colin A. Johnson, Jingliang Cheng, Graham R. Taylor, Mohammed Nageeb, Yiyun Chen, Clare V. Logan, Vafa Keser, Martin McKibbin, Jacek Majewski, Bruce E. Hayward, Mohammed Genead, Xia Wang, Huanan Ren, Carmel Toomes, Qing Fu, Yumei Li, Elias I. Traboulsi, David A. Parry, Gerald A. Fishman, Irma Lopez, Hui Wang, Graeme Mardon, James A. Poulter, Jeremy Schwartzentruber, Naimesh Solanki, Robert K. Koenekoop
Publikováno v:
Nature Genetics. 44:1035-1039
Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first year after birth. Using exome sequencing, we identified mutations in the nicotinamide adenine dinucleotide (NAD) synthase gene NMNAT1 encoding nicotinamide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6a02427db44a5ec196dc6d3289310439
https://doi.org/10.1038/ng.2356
https://doi.org/10.1038/ng.2356
Autor:
José Luiz Pedroso, S. Cao, Helen Griffin, Doris Kretzschmar, S. Fahiminiya, Vafa Keser, Hana Hartmannová, Michel Cayouette, Anna Přistoupilová, Angela Pyle, Patrick F. Chinnery, Robert K. Koenekoop, Irma Lopez, L Kuchař, Kateřina Hodaňová, Viktor Stránecký, Lenka Piherová, M. Splitt, A. Baxova, Orlando Graziani Povoas Barsottini, John Tolmie, Ayesha Khan, Care Rare Canada, Eyal Banin, Dror Sharon, R. Chen, Sudeshna Dutta, Juliana Maria Ferraz Sallum, R. Grebler, Ian M. MacDonald, Stanislav Kmoch, Vincent Sun, C. Helfrich-Foerster, Jacek Majewski, Huanan Ren, Julian R. Sampson, Visvanathan Ramamurthy
Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esteras
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6964e4f86a79b518164a66c29bb30eb
https://europepmc.org/articles/PMC4356490/
https://europepmc.org/articles/PMC4356490/
Autor:
Sorath Noorani Siddiqui, Vafa Keser, Rui Chen, Ayesha Khan, Jacek Majewski, Huanan Ren, Irma Lopez, Robert K. Koenekoop, Javad Nadaf, Raheel Qamar
Publikováno v:
Investigative Ophthalmology & Visual Science
Purpose To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b12688146a8fb4db5cbc6ac60fa1c949
https://doi.org/10.1167/iovs.16-20281
https://doi.org/10.1167/iovs.16-20281
Autor:
Shen Li, Irma Lopez-Solache, Vafa Keser, Robert K. Koenekoop, Naveen Mysore, Jamie Koenekoop, Huanan Ren
Publikováno v:
Cold Spring Harbor perspectives in medicine. 5(11)
Photoreceptor neuronal degenerations are common and incurable causes of human blindness with one in 2000 affected. Approximately, half of all patients are associated with known mutations in more than 200 disease genes. Most retinal degenerations are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7303b955c8af9e5b843a68667f0f20ac
https://pubmed.ncbi.nlm.nih.gov/25475108
https://pubmed.ncbi.nlm.nih.gov/25475108
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
Autor:
Heon Yung Gee, R. G. Coussa, R. Faingold, Robert K. Koenekoop, Arif O. Khan, Jacek Majewski, Edgar A. Otto, Huanan Ren, Vafa Keser, Jeremy Schwartzentruber, Irma Lopez, Q. Fu, P. Arthurs, Friedhelm Hildebrandt
Publikováno v:
Clinical genetics. 84(2)
Retinitis pigmentosa (RP) is a well known inherited retinal dystrophy that leads to progressive loss of vision, and eventually complete blindness due to photoreceptor cell death. RP is restricted to the eye, specifically the retina and photoreceptors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee3a32cb451d8bf298ac8a630882740e
https://pubmed.ncbi.nlm.nih.gov/23683095
https://pubmed.ncbi.nlm.nih.gov/23683095