Sökning: WFRF:(Riederer Peter) > Common variants at ...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 07155naa a2201597 4500 | |
001 | oai:DiVA.org:uu-120759 | |
003 | SwePub | |
008 | 100316s2010 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:120091521 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1207592 URI |
024 | 7 | a https://doi.org/10.1038/ng.5362 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1200915212 URI |
040 | a (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Van Deerlin, Vivian M4 aut |
245 | 1 0 | a Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions |
264 | c 2010-02-14 | |
264 | 1 | b Springer Science and Business Media LLC,c 2010 |
338 | a print2 rdacarrier | |
520 | a Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP-43) inclusions (FTLD-TDP). FTLD-TDP is frequently familial, resulting from mutations in GRN (which encodes progranulin). We assembled an international collaboration to identify susceptibility loci for FTLD-TDP through a genome-wide association study of 515 individuals with FTLD-TDP. We found that FTLD-TDP associates with multiple SNPs mapping to a single linkage disequilibrium block on 7p21 that contains TMEM106B. Three SNPs retained genome-wide significance following Bonferroni correction (top SNP rs1990622, P = 1.08 x 10(-11); odds ratio, minor allele (C) 0.61, 95% CI 0.53-0.71). The association replicated in 89 FTLD-TDP cases (rs1990622; P = 2 x 10(-4)). TMEM106B variants may confer risk of FTLD-TDP by increasing TMEM106B expression. TMEM106B variants also contribute to genetic risk for FTLD-TDP in individuals with mutations in GRN. Our data implicate variants in TMEM106B as a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng |
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 Pathology | |
653 | a Patologi | |
653 | a Molecular medicine (genetics and pathology) | |
653 | a Molekylär medicin (genetik och patologi) | |
700 | 1 | a Sleiman, Patrick M. A.4 aut |
700 | 1 | a Martinez-Lage, Maria4 aut |
700 | 1 | a Chen-Plotkin, Alice4 aut |
700 | 1 | a Wang, Li-San4 aut |
700 | 1 | a Graff-Radford, Neill R.4 aut |
700 | 1 | a Dickson, Dennis W.4 aut |
700 | 1 | a Rademakers, Rosa4 aut |
700 | 1 | a Boeve, Bradley F.4 aut |
700 | 1 | a Grossman, Murray4 aut |
700 | 1 | a Arnold, Steven E.4 aut |
700 | 1 | a Mann, David M. A.4 aut |
700 | 1 | a Pickering-Brown, Stuart M.4 aut |
700 | 1 | a Seelaar, Harro4 aut |
700 | 1 | a Heutink, Peter4 aut |
700 | 1 | a van Swieten, John C.4 aut |
700 | 1 | a Murrell, Jill R.4 aut |
700 | 1 | a Ghetti, Bernardino4 aut |
700 | 1 | a Spina, Salvatore4 aut |
700 | 1 | a Grafman, Jordan4 aut |
700 | 1 | a Hodges, John4 aut |
700 | 1 | a Spillantini, Maria Grazia4 aut |
700 | 1 | a Gilman, Sid4 aut |
700 | 1 | a Lieberman, Andrew P.4 aut |
700 | 1 | a Kaye, Jeffrey A.4 aut |
700 | 1 | a Woltjer, Randall L.4 aut |
700 | 1 | a Bigio, Eileen H.4 aut |
700 | 1 | a Mesulam, Marsel4 aut |
700 | 1 | a Al-Sarraj, Safa4 aut |
700 | 1 | a Troakes, Claire4 aut |
700 | 1 | a Rosenberg, Roger N.4 aut |
700 | 1 | a White, Charles L.4 aut |
700 | 1 | a Ferrer, Isidro4 aut |
700 | 1 | a Lladó, Albert4 aut |
700 | 1 | a Neumann, Manuela4 aut |
700 | 1 | a Kretzschmar, Hans A.4 aut |
700 | 1 | a Hulette, Christine Marie4 aut |
700 | 1 | a Welsh-Bohmer, Kathleen A.4 aut |
700 | 1 | a Miller, Bruce L.4 aut |
700 | 1 | a Alzualde, Ainhoa4 aut |
700 | 1 | a de Munain, Adolfo Lopez4 aut |
700 | 1 | a McKee, Ann C.4 aut |
700 | 1 | a Gearing, Marla4 aut |
700 | 1 | a Levey, Allan I.4 aut |
700 | 1 | a Lah, James J.4 aut |
700 | 1 | a Hardy, John4 aut |
700 | 1 | a Rohrer, Jonathan D.4 aut |
700 | 1 | a Lashley, Tammaryn4 aut |
700 | 1 | a Mackenzie, Ian R. A.4 aut |
700 | 1 | a Feldman, Howard H.4 aut |
700 | 1 | a Hamilton, Ronald L.4 aut |
700 | 1 | a Dekosky, Steven T.4 aut |
700 | 1 | a van der Zee, Julie4 aut |
700 | 1 | a Kumar-Singh, Samir4 aut |
700 | 1 | a Van Broeckhoven, Christine4 aut |
700 | 1 | a Mayeux, Richard4 aut |
700 | 1 | a Vonsattel, Jean Paul G.4 aut |
700 | 1 | a Troncoso, Juan C.4 aut |
700 | 1 | a Kril, Jillian J.4 aut |
700 | 1 | a Kwok, John B. J.4 aut |
700 | 1 | a Halliday, Glenda M.4 aut |
700 | 1 | a Bird, Thomas D.4 aut |
700 | 1 | a Ince, Paul G.4 aut |
700 | 1 | a Shaw, Pamela J.4 aut |
700 | 1 | a Cairns, Nigel J.4 aut |
700 | 1 | a Morris, John C.4 aut |
700 | 1 | a McLean, Catriona Ann4 aut |
700 | 1 | a DeCarli, Charles4 aut |
700 | 1 | a Ellis, William G.4 aut |
700 | 1 | a Freeman, Stefanie H.4 aut |
700 | 1 | a Frosch, Matthew P.4 aut |
700 | 1 | a Growdon, John H.4 aut |
700 | 1 | a Perl, Daniel P.4 aut |
700 | 1 | a Sano, Mary4 aut |
700 | 1 | a Bennett, David A.4 aut |
700 | 1 | a Schneider, Julie A.4 aut |
700 | 1 | a Beach, Thomas G.4 aut |
700 | 1 | a Reiman, Eric M.4 aut |
700 | 1 | a Woodruff, Bryan K.4 aut |
700 | 1 | a Cummings, Jeffrey4 aut |
700 | 1 | a Vinters, Harry V.4 aut |
700 | 1 | a Miller, Carol A.4 aut |
700 | 1 | a Chui, Helena C.4 aut |
700 | 1 | a Alafuzoff, Irinau Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)irial548 |
700 | 1 | a Hartikainen, Päivi4 aut |
700 | 1 | a Seilhean, Danielle4 aut |
700 | 1 | a Galasko, Douglas4 aut |
700 | 1 | a Masliah, Eliezer4 aut |
700 | 1 | a Cotman, Carl W.4 aut |
700 | 1 | a Tuñón, M. Teresa4 aut |
700 | 1 | a Martínez, M. Cristina Caballero4 aut |
700 | 1 | a Munoz, David G.4 aut |
700 | 1 | a Carroll, Steven L.4 aut |
700 | 1 | a Marson, Daniel4 aut |
700 | 1 | a Riederer, Peter F.4 aut |
700 | 1 | a Bogdanovic, Nenadu Karolinska Institutet4 aut |
700 | 1 | a Schellenberg, Gerard D.4 aut |
700 | 1 | a Hakonarson, Hakon4 aut |
700 | 1 | a Trojanowski, John Q.4 aut |
700 | 1 | a Lee, Virginia M-Y.4 aut |
710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 42:3, s. 234-239q 42:3<234-239x 1061-4036x 1546-1718 |
856 | 4 | u https://europepmc.org/articles/pmc2828525?pdf=render |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-120759 |
856 | 4 8 | u https://doi.org/10.1038/ng.536 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:120091521 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Kopiera och spara länken för att återkomma till aktuell vy