Sökning: onr:"swepub:oai:DiVA.org:umu-142909" > The role of de novo...
Fältnamn | Indikatorer | Metadata |
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000 | 03918naa a2200733 4500 | |
001 | oai:DiVA.org:umu-142909 | |
003 | SwePub | |
008 | 171215s2017 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1429092 URI |
024 | 7 | a https://doi.org/10.1002/humu.232952 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 van Doormaal, Perry T. C.4 aut |
245 | 1 0 | a The role of de novo mutations in the development of amyotrophic lateral sclerosis |
264 | c 2017-08-03 | |
264 | 1 | b John Wiley & Sons,c 2017 |
338 | a print2 rdacarrier | |
520 | a The genetic basis combined with the sporadic occurrence of amyotrophic lateral sclerosis (ALS) suggests a role of de novo mutations in disease pathogenesis. Previous studies provided some evidence for this hypothesis; however, results were conflicting: no genes with recurrent occurring de novo mutations were identified and different pathways were postulated. In this study, we analyzed whole-exome data from 82 new patient-parents trios and combined it with the datasets of all previously published ALS trios (173 trios in total). The per patient de novo rate was not higher than expected based on the general population (P = 0.40). We showed that these mutations are not part of the previously postulated pathways, and gene-gene interaction analysis found no enrichment of interacting genes in this group (P = 0.57). Also, we were able to show that the de novo mutations in ALS patients are located in genes already prone for de novo mutations (P < 1 x 10(-15)). Although the individual effect of rare de novo mutations in specific genes could not be assessed, our results indicate that, in contrast to previous hypothesis, de novo mutations in general do not impose a major burden on ALS risk. | |
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 |
653 | a ALS | |
653 | a amyotrophic lateral sclerosis | |
653 | a de novo mutations | |
653 | a disease pathway | |
653 | a motor neuron disease | |
653 | a trios | |
700 | 1 | a Ticozzi, Nicola4 aut |
700 | 1 | a Weishaupt, Jochen H.4 aut |
700 | 1 | a Kenna, Kevin4 aut |
700 | 1 | a Diekstra, Frank P.4 aut |
700 | 1 | a Verde, Federico4 aut |
700 | 1 | a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001 |
700 | 1 | a Dekker, Annelot M.4 aut |
700 | 1 | a Tiloca, Cinzia4 aut |
700 | 1 | a Marroquin, Nicolai4 aut |
700 | 1 | a Overste, Daniel J.4 aut |
700 | 1 | a Pensato, Viviana4 aut |
700 | 1 | a Nuernberg, Peter4 aut |
700 | 1 | a Pulit, Sara L.4 aut |
700 | 1 | a Schellevis, Raymond D.4 aut |
700 | 1 | a Calini, Daniela4 aut |
700 | 1 | a Altmueller, Janine4 aut |
700 | 1 | a Francioli, Laurent C.4 aut |
700 | 1 | a Muller, Bernard4 aut |
700 | 1 | a Castellotti, Barbara4 aut |
700 | 1 | a Motameny, Susanne4 aut |
700 | 1 | a Ratti, Antonia4 aut |
700 | 1 | a Wolf, Joachim4 aut |
700 | 1 | a Gellera, Cinzia4 aut |
700 | 1 | a Ludolph, Albert C.4 aut |
700 | 1 | a van den Berg, Leonard H.4 aut |
700 | 1 | a Kubisch, Christian4 aut |
700 | 1 | a Landers, John E.4 aut |
700 | 1 | a Veldink, Jan H.4 aut |
700 | 1 | a Silani, Vincenzo4 aut |
700 | 1 | a Volk, Alexander E.4 aut |
710 | 2 | a Umeå universitetb Klinisk neurovetenskap4 org |
773 | 0 | t Human Mutationd : John Wiley & Sonsg 38:11, s. 1534-1541q 38:11<1534-1541x 1059-7794x 1098-1004 |
856 | 4 | u https://europepmc.org/articles/pmc6599399?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-142909 |
856 | 4 8 | u https://doi.org/10.1002/humu.23295 |
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