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Campo DC | Valor | Lengua/Idioma |
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dc.contributor.author | Khanna, Hemant | - |
dc.contributor.author | Bhattacharya, Shom Shanker | - |
dc.contributor.author | Katsanis, Nicholas | - |
dc.date.accessioned | 2011-09-29T09:00:39Z | - |
dc.date.available | 2011-09-29T09:00:39Z | - |
dc.date.issued | 2009 | - |
dc.identifier.citation | Nature Genetics 41(6): 739-745 (2009) | es_ES |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.uri | http://hdl.handle.net/10261/40249 | - |
dc.description | 14 páginas, 2 figuras, 3 tablas.-- EL Pdf es el manuscrito de autor.-- et al. | es_ES |
dc.description | The article is freely available at PMC web site: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2783476/ | - |
dc.description.abstract | Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes. As part of our resequencing efforts of the ciliary proteome, we identified several putative loss-of-function RPGRIP1L mutations, including one common variant, A229T. Multiple genetic lines of evidence showed this allele to be associated with photoreceptor loss in ciliopathies. Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction. Our data represent an example of modification of a discrete phenotype of syndromic disease and highlight the importance of a multifaceted approach for the discovery of modifier alleles of intermediate frequency and effect. | es_ES |
dc.description.sponsorship | This work was supported by grants R01EY007961 from the National Eye Institute (HK and AS), R01HD04260 from the National Institute of Child Health and Development (NK), R01DK072301, R01DK075972 (NK) R01DK068306, R01DK064614, R01DK069274 (FH), NRSA fellowship F32 DK079541 (EED) from the National Institute of Diabetes, Digestive and Kidney disorders, Intramural program of NEI (AS) the Macular Vision Research Foundation (NK), the Foundation for Fighting Blindness (HK, SSB, AS, and NK), the Foundation for Fighting Blindness Canada (RKK), Le Fonds de la recherche en sante du Québec (FRSQ) (RKK), Research to Prevent Blindness (AS), Harold Falls Collegiate Professorship (AS), the Midwest Eye Banks and Transplantation Center (HK), the Searle Scholars Program (MAB), the UK Medical Research Council (grant number G0700073; CAJ), NIHR Biomedical Research Centre for Ophthalmology (SSB) and EU-GENORET Grant LSHGCT- 2005-512036 (SSB). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Nature Publishing Group | es_ES |
dc.rights | closedAccess | es_ES |
dc.title | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | es_ES |
dc.type | artículo | es_ES |
dc.identifier.doi | 10.1038/ng.366 | - |
dc.description.peerreviewed | Peer reviewed | es_ES |
dc.relation.publisherversion | http://dx.doi.org/10.1038/ng.366 | es_ES |
dc.identifier.e-issn | 1546-1718 | - |
dc.identifier.pmid | 19430481 | - |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
item.cerifentitytype | Publications | - |
item.openairetype | artículo | - |
item.languageiso639-1 | en | - |
item.grantfulltext | none | - |
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