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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 09736naa a2202377 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:141483237 | |
| 003 | SwePub | |
| 008 | 240811s2019 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:9bd3d9b7-b1a1-4338-a80c-2722d4fd63ad | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1414832372 URI |
| 024 | 7 | a https://doi.org/10.1038/s41598-019-46415-12 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/9bd3d9b7-b1a1-4338-a80c-2722d4fd63ad2 URI |
| 040 | a (SwePub)kid (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Bonham, LWu University of California, San Francisco4 aut |
| 245 | 1 0 | a Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia |
| 264 | c 2019-07-26 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2019 |
| 520 | a The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike many other forms of frontotemporal lobar degeneration (FTLD), svPPA has a highly consistent underlying pathology composed of TDP-43 (a regulator of RNA and DNA transcription metabolism). Previous genetic studies of svPPA are limited by small sample sizes and a paucity of common risk variants. Despite this, svPPA’s relatively homogenous clinicopathologic phenotype makes it an ideal investigative model to examine genetic processes that may drive neurodegenerative disease. In this study, we used GWAS metadata, tissue samples from pathologically confirmed frontotemporal lobar degeneration, and in silico techniques to identify and characterize protein interaction networks associated with svPPA risk. We identified 64 svPPA risk genes that interact at the protein level. The protein pathways represented in this svPPA gene network are critical regulators of RNA metabolism and cell death, such as SMAD proteins and NOTCH1. Many of the genes in this network are involved in TDP-43 metabolism. Contrary to the conventional notion that svPPA is a clinical syndrome with few genetic risk factors, our analyses show that svPPA risk is complex and polygenic in nature. Risk for svPPA is likely driven by multiple common variants in genes interacting with TDP-43, along with cell death,x` working in combination to promote neurodegeneration. | |
| 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 Steele, NZR4 aut |
| 700 | 1 | a Karch, CM4 aut |
| 700 | 1 | a Broce, I4 aut |
| 700 | 1 | a Geier, EG4 aut |
| 700 | 1 | a LANDQVIST WALDÖ, MARIAu Lund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-mlv |
| 700 | 1 | a Momeni, P4 aut |
| 700 | 1 | a Hardy, J4 aut |
| 700 | 1 | a Miller, ZA4 aut |
| 700 | 1 | a Gorno-Tempini, ML4 aut |
| 700 | 1 | a Hess, CP4 aut |
| 700 | 1 | a Lewis, P4 aut |
| 700 | 1 | a Miller, BL4 aut |
| 700 | 1 | a Seeley, WW4 aut |
| 700 | 1 | a Manzoni, C4 aut |
| 700 | 1 | a Desikan, RS4 aut |
| 700 | 1 | a Baranzini, SE4 aut |
| 700 | 1 | a Ferraris, R4 aut |
| 700 | 1 | a Yokoyama, JS4 aut |
| 700 | 1 | a Hernandez, DG4 aut |
| 700 | 1 | a Nalls, MA4 aut |
| 700 | 1 | a Rohrer, JD4 aut |
| 700 | 1 | a Ramasamy, A4 aut |
| 700 | 1 | a Kwok, JBJ4 aut |
| 700 | 1 | a Dobson-Stone, C4 aut |
| 700 | 1 | a Schofield, PR4 aut |
| 700 | 1 | a Halliday, GM4 aut |
| 700 | 1 | a Hodges, JR4 aut |
| 700 | 1 | a Piguet, O4 aut |
| 700 | 1 | a Bartley, L4 aut |
| 700 | 1 | a Thompson, E4 aut |
| 700 | 1 | a Haan, E4 aut |
| 700 | 1 | a Hernandez,4 aut |
| 700 | 1 | a Ruiz, A4 aut |
| 700 | 1 | a Boada, M4 aut |
| 700 | 1 | a Borroni, Bu National Institute on Aging, United States4 aut |
| 700 | 1 | a Padovani, A4 aut |
| 700 | 1 | a Cruchaga, Cu Karolinska Institutet4 aut |
| 700 | 1 | a Cairns, NJ4 aut |
| 700 | 1 | a Benussi, L4 aut |
| 700 | 1 | a Binetti, G4 aut |
| 700 | 1 | a Ghidoni, R4 aut |
| 700 | 1 | a Forloni, G4 aut |
| 700 | 1 | a Albani, D4 aut |
| 700 | 1 | a Galimberti, D4 aut |
| 700 | 1 | a Fenoglio, C4 aut |
| 700 | 1 | a Serpente, M4 aut |
| 700 | 1 | a Scarpini, E4 aut |
| 700 | 1 | a Clarimon, J4 aut |
| 700 | 1 | a Lleo, A4 aut |
| 700 | 1 | a Blesa, R4 aut |
| 700 | 1 | a Waldo, ML4 aut |
| 700 | 1 | a Nilsson, Karinu Lund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-kan |
| 700 | 1 | a Nilsson, Christeru Lund University,Lunds universitet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups4 aut0 (Swepub:lu)neur-cni |
| 700 | 1 | a Mackenzie, IRA4 aut |
| 700 | 1 | a Hsiung, GYR4 aut |
| 700 | 1 | a Mann, DMA4 aut |
| 700 | 1 | a Grafman, J4 aut |
| 700 | 1 | a Morris, CM4 aut |
| 700 | 1 | a Attems, J4 aut |
| 700 | 1 | a Griffiths, TD4 aut |
| 700 | 1 | a McKeith, IG4 aut |
| 700 | 1 | a Thomas, AJ4 aut |
| 700 | 1 | a Pietrini, P4 aut |
| 700 | 1 | a Huey, ED4 aut |
| 700 | 1 | a Wassermann, EM4 aut |
| 700 | 1 | a Baborie, A4 aut |
| 700 | 1 | a Jaros, E4 aut |
| 700 | 1 | a Tierney, MC4 aut |
| 700 | 1 | a Pastor, P4 aut |
| 700 | 1 | a Razquin, C4 aut |
| 700 | 1 | a Ortega-Cubero, S4 aut |
| 700 | 1 | a Alonso, E4 aut |
| 700 | 1 | a Perneczky, R4 aut |
| 700 | 1 | a Diehl-Schmid, J4 aut |
| 700 | 1 | a Alexopoulos, P4 aut |
| 700 | 1 | a Kurz, A4 aut |
| 700 | 1 | a Rainero,4 aut |
| 700 | 1 | a Rubino, E4 aut |
| 700 | 1 | a Pinessi, L4 aut |
| 700 | 1 | a Rogaeva, E4 aut |
| 700 | 1 | a St George-Hyslop, P4 aut |
| 700 | 1 | a Rossi, G4 aut |
| 700 | 1 | a Tagliavini, F4 aut |
| 700 | 1 | a Giaccone, G4 aut |
| 700 | 1 | a Rowe, JB4 aut |
| 700 | 1 | a Schlachetzki, JCM4 aut |
| 700 | 1 | a Uphill, J4 aut |
| 700 | 1 | a Collinge, J4 aut |
| 700 | 1 | a Mead, S4 aut |
| 700 | 1 | a Danek, A4 aut |
| 700 | 1 | a Van Deerlin, VM4 aut |
| 700 | 1 | a Grossman, M4 aut |
| 700 | 1 | a Trojanowski, JQ4 aut |
| 700 | 1 | a van der Zee, J4 aut |
| 700 | 1 | a Cruts, M4 aut |
| 700 | 1 | a Van Broeckhoven, C4 aut |
| 700 | 1 | a Cappa, SF4 aut |
| 700 | 1 | a Leber,4 aut |
| 700 | 1 | a Hannequin, D4 aut |
| 700 | 1 | a Golfier,4 aut |
| 700 | 1 | a Vercelletto, M4 aut |
| 700 | 1 | a Brice, A4 aut |
| 700 | 1 | a Nacmias, B4 aut |
| 700 | 1 | a Sorbin, S4 aut |
| 700 | 1 | a Bagnoli, S4 aut |
| 700 | 1 | a Piaceri,4 aut |
| 700 | 1 | a Nielsen, JE4 aut |
| 700 | 1 | a Hjermind, LE4 aut |
| 700 | 1 | a Riemenschneider, M4 aut |
| 700 | 1 | a Mayhaus, M4 aut |
| 700 | 1 | a Ibach, B4 aut |
| 700 | 1 | a Gasparoni, G4 aut |
| 700 | 1 | a Pichler, S4 aut |
| 700 | 1 | a Gu, W4 aut |
| 700 | 1 | a Rossor, MN4 aut |
| 700 | 1 | a Fox, NC4 aut |
| 700 | 1 | a Warren, JD4 aut |
| 700 | 1 | a Spillantini, MG4 aut |
| 700 | 1 | a Morriss, HR4 aut |
| 700 | 1 | a Rizzu, P4 aut |
| 700 | 1 | a Heutink, P4 aut |
| 700 | 1 | a Snowden, JS4 aut |
| 700 | 1 | a Rollinson, S4 aut |
| 700 | 1 | a Richardson, A4 aut |
| 700 | 1 | a Gerhard, A4 aut |
| 700 | 1 | a Bruni, AC4 aut |
| 700 | 1 | a Maletta, R4 aut |
| 700 | 1 | a Frangipane, F4 aut |
| 700 | 1 | a Cupidi, C4 aut |
| 700 | 1 | a Bernardi, L4 aut |
| 700 | 1 | a Anfossi, M4 aut |
| 700 | 1 | a Gallo, M4 aut |
| 700 | 1 | a Conidi, ME4 aut |
| 700 | 1 | a Smirne, N4 aut |
| 700 | 1 | a Rademakers, R4 aut |
| 700 | 1 | a Baker, M4 aut |
| 700 | 1 | a Dickson, DW4 aut |
| 700 | 1 | a Graff-Radford, NR4 aut |
| 700 | 1 | a Petersen, RC4 aut |
| 700 | 1 | a Knopman, D4 aut |
| 700 | 1 | a Josephs, KA4 aut |
| 700 | 1 | a Boeve, BF4 aut |
| 700 | 1 | a Parisi, JE4 aut |
| 700 | 1 | a Karydas, AM4 aut |
| 700 | 1 | a Rosen, H4 aut |
| 700 | 1 | a van Swieten, JC4 aut |
| 700 | 1 | a Dopper, EGP4 aut |
| 700 | 1 | a Seelaar, H4 aut |
| 700 | 1 | a Pijnenburg, YAL4 aut |
| 700 | 1 | a Scheltens, P4 aut |
| 700 | 1 | a Logroscino, G4 aut |
| 700 | 1 | a Capozzo, R4 aut |
| 700 | 1 | a Novelli,4 aut |
| 700 | 1 | a Puca, AA4 aut |
| 700 | 1 | a Franceschi, M4 aut |
| 700 | 1 | a Postiglione, A4 aut |
| 700 | 1 | a Milan, G4 aut |
| 700 | 1 | a Sorrentino, P4 aut |
| 700 | 1 | a Kristiansen, M4 aut |
| 700 | 1 | a Chian, HH4 aut |
| 700 | 1 | a Graff, Cu Karolinska Institutet4 aut |
| 700 | 1 | a Pasquier, F4 aut |
| 700 | 1 | a Rollin, A4 aut |
| 700 | 1 | a Deramecourt,4 aut |
| 700 | 1 | a Lebouvier, T4 aut |
| 700 | 1 | a Kapogiannis, D4 aut |
| 700 | 1 | a Ferrucci, L4 aut |
| 700 | 1 | a Pickering-Brown, S4 aut |
| 700 | 1 | a Singleton, AB4 aut |
| 710 | 2 | a University of California, San Franciscob Psykiatri, Lund4 org |
| 773 | 0 | t Scientific reportsd : Springer Science and Business Media LLCg 9:1, s. 10854-q 9:1<10854-x 2045-2322 |
| 856 | 4 | u https://www.nature.com/articles/s41598-019-46415-1.pdf |
| 856 | 4 | u https://www.scopus.com/inward/record.uri?eid=2-s2.0-85069717816&doi=10.1038%2fs41598-019-46415-1&partnerID=40&md5=9c44929bf505d5b3276a6af6ac1b0983y FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1038/s41598-019-46415-1x freey FULLTEXT |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:141483237 |
| 856 | 4 8 | u https://doi.org/10.1038/s41598-019-46415-1 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/9bd3d9b7-b1a1-4338-a80c-2722d4fd63ad |
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