Sökning: onr:"swepub:oai:DiVA.org:umu-126319" > NEK1 variants confe...
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000 | 06148naa a2201429 4500 | |
001 | oai:DiVA.org:umu-126319 | |
003 | SwePub | |
008 | 161003s2016 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1263192 URI |
024 | 7 | a https://doi.org/10.1038/ng.36262 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Kenna, Kevin P.4 aut |
245 | 1 0 | a NEK1 variants confer susceptibility to amyotrophic lateral sclerosis |
264 | c 2016-07-25 | |
264 | 1 | b Springer Science and Business Media LLC,c 2016 |
338 | a print2 rdacarrier | |
520 | a To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261 His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261 His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a van Doormaal, Perry T. C.4 aut |
700 | 1 | a Dekker, Annelot M.4 aut |
700 | 1 | a Ticozzi, Nicola4 aut |
700 | 1 | a Kenna, Brendan J.4 aut |
700 | 1 | a Diekstra, Frank P.4 aut |
700 | 1 | a van Rheenen, Wouter4 aut |
700 | 1 | a van Eijk, Kristel R.4 aut |
700 | 1 | a Jones, Ashley R.4 aut |
700 | 1 | a Keaglel, Pamela4 aut |
700 | 1 | a Shatunov, Aleksey4 aut |
700 | 1 | a Sproviero, William4 aut |
700 | 1 | a Smiths, Bradley N.4 aut |
700 | 1 | a van Es, Michael A.4 aut |
700 | 1 | a Topps, Simon D.4 aut |
700 | 1 | a Kenna, Aoife4 aut |
700 | 1 | a Miller, Jack W.4 aut |
700 | 1 | a Fallini, Claudia4 aut |
700 | 1 | a Tiloca, Cinzia4 aut |
700 | 1 | a McLaughlin, Russell L.4 aut |
700 | 1 | a Vance, Caroline4 aut |
700 | 1 | a Troakes, Claire4 aut |
700 | 1 | a Colombrita, Claudia4 aut |
700 | 1 | a Mora, Gabriele4 aut |
700 | 1 | a Calvo, Andrea4 aut |
700 | 1 | a Verde, Federico4 aut |
700 | 1 | a Al-Sarraj, Safa4 aut |
700 | 1 | a King, Andrew4 aut |
700 | 1 | a Calini, Daniela4 aut |
700 | 1 | a de Belleroche, Jacqueline4 aut |
700 | 1 | a Baas, Frank4 aut |
700 | 1 | a van der Kooi, Anneke J.4 aut |
700 | 1 | a de Visser, Marianne4 aut |
700 | 1 | a ten Asbroek, Anneloor L. M. A.4 aut |
700 | 1 | a Sapp, Peter C.4 aut |
700 | 1 | a McKenna-Yasek, Diane4 aut |
700 | 1 | a Polak, Meraida4 aut |
700 | 1 | a Asress, Seneshaw4 aut |
700 | 1 | a Luis Munoz-Blanco, Jose4 aut |
700 | 1 | a Strom, Tim M.4 aut |
700 | 1 | a Meitinger, Thomas4 aut |
700 | 1 | a Morrison, Karen E.4 aut |
700 | 1 | a Lauria, Giuseppe4 aut |
700 | 1 | a Williams, Kelly L.4 aut |
700 | 1 | a Leigh, P. Nigel4 aut |
700 | 1 | a Nicholson, Garth A.4 aut |
700 | 1 | a Blair, Ian P.4 aut |
700 | 1 | a Leblond, Claire S.4 aut |
700 | 1 | a Dion, Patrick A.4 aut |
700 | 1 | a Rouleau, Guy A.4 aut |
700 | 1 | a Pall, Hardev4 aut |
700 | 1 | a Shaw, Pamela J.4 aut |
700 | 1 | a Turner, Martin R.4 aut |
700 | 1 | a Talbot, Kevin4 aut |
700 | 1 | a Taroni, Franco4 aut |
700 | 1 | a Boylan, Kevin B.4 aut |
700 | 1 | a Van Blitterswijk, Marka4 aut |
700 | 1 | a Rademakers, Rosa4 aut |
700 | 1 | a Esteban-Perez, Jesus4 aut |
700 | 1 | a Garcia-Redondo, Alberto4 aut |
700 | 1 | a Van Damme, Phillip4 aut |
700 | 1 | a Robberecht, Wim4 aut |
700 | 1 | a Chio, Adrian4 aut |
700 | 1 | a Gellera, Cinzia4 aut |
700 | 1 | a Drepper, Carsten4 aut |
700 | 1 | a Sendtner, Michael4 aut |
700 | 1 | a Ratti, Antonia4 aut |
700 | 1 | a Glass, Jonathan D.4 aut |
700 | 1 | a Mora, Jesus S.4 aut |
700 | 1 | a Basak, Nazli A.4 aut |
700 | 1 | a Hardiman, Orla4 aut |
700 | 1 | a Ludolph, Albert C.4 aut |
700 | 1 | a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001 |
700 | 1 | a Weishaupt, Jochen H.4 aut |
700 | 1 | a Brown, Robert H., Jr.4 aut |
700 | 1 | a Al-Chalabi, Ammar4 aut |
700 | 1 | a Silani, Vincenzo4 aut |
700 | 1 | a Shaw, Christopher E.4 aut |
700 | 1 | a van den Berg, Leonard H.4 aut |
700 | 1 | a Veldink, Jan H.4 aut |
700 | 1 | a Landers, John E.4 aut |
700 | 1 | a D'Alfonso, Sandra4 aut |
700 | 1 | a Mazzini, Letizia4 aut |
700 | 1 | a Comi, Giacomo P.4 aut |
700 | 1 | a Del Bo, Roberto4 aut |
700 | 1 | a Ceroni, Mauro4 aut |
700 | 1 | a Gagliardi, Stella4 aut |
700 | 1 | a Querin, Giorgia4 aut |
700 | 1 | a Bertolin, Cinzia4 aut |
700 | 1 | a Pensato, Viviana4 aut |
700 | 1 | a Castellotti, Barbara4 aut |
700 | 1 | a Corti, Stefania4 aut |
700 | 1 | a Cereda, Cristina4 aut |
700 | 1 | a Corrado, Lucia4 aut |
700 | 1 | a Soraru, Gianni4 aut |
710 | 2 | a Umeå universitetb Klinisk neurovetenskap4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 48:9, s. 1037-1042q 48:9<1037-1042x 1061-4036x 1546-1718 |
856 | 4 | u https://air.unimi.it/bitstream/2434/425939/2/Kenna%20KP%20et%20al.%20%20%28NEK1%29%20Nat%20Genetics%202016.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-126319 |
856 | 4 8 | u https://doi.org/10.1038/ng.3626 |
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