TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

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Fältnamn	Indikatorer	Metadata
000		06169naa a2201285 4500
001		oai:DiVA.org:uu-222761
003		SwePub
008		140414s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:128369819
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2227612 URI
024	7	a https://doi.org/10.1007/s00401-013-1239-x2 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1283698192 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 Gallagher, Michael D.4 aut
245	1 0	a TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions
264		c 2014-01-19
264	1	b Springer Science and Business Media LLC,c 2014
338		a print2 rdacarrier
520		a Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) have recently been linked to frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis, and may be the most common genetic cause of both neurodegenerative diseases. Genetic variants at TMEM106B influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA-binding protein of 43 kDa (FTLD-TDP). Previous reports have shown that TMEM106B is a genetic modifier of FTLD-TDP caused by progranulin (GRN) mutations, with the major (risk) allele of rs1990622 associating with earlier age at onset of disease. Here, we report that rs1990622 genotype affects age at death in a single-site discovery cohort of FTLD patients with C9orf72 expansions (n = 14), with the major allele correlated with later age at death (p = 0.024). We replicate this modifier effect in a 30-site international neuropathological cohort of FTLD-TDP patients with C9orf72 expansions (n = 75), again finding that the major allele associates with later age at death (p = 0.016), as well as later age at onset (p = 0.019). In contrast, TMEM106B genotype does not affect age at onset or death in 241 FTLD-TDP cases negative for GRN mutations or C9orf72 expansions. Thus, TMEM106B is a genetic modifier of FTLD with C9orf72 expansions. Intriguingly, the genotype that confers increased risk for developing FTLD-TDP (major, or T, allele of rs1990622) is associated with later age at onset and death in C9orf72 expansion carriers, providing an example of sign epistasis in human neurodegenerative disease.
653		a TMEM106B
653		a C9orf72
653		a Frontotemporal dementia
653		a Frontotemporal lobar degeneration
653		a Amyotrophic lateral sclerosis
653		a Genetic modifier
700	1	a Suh, Eunran4 aut
700	1	a Grossman, Murray4 aut
700	1	a Elman, Lauren4 aut
700	1	a McCluskey, Leo4 aut
700	1	a Van Swieten, John C.4 aut
700	1	a Al-Sarraj, Safa4 aut
700	1	a Neumann, Manuela4 aut
700	1	a Gelpi, Ellen4 aut
700	1	a Ghetti, Bernardino4 aut
700	1	a Rohrer, Jonathan D.4 aut
700	1	a Halliday, Glenda4 aut
700	1	a Van Broeckhoven, Christine4 aut
700	1	a Seilhean, Danielle4 aut
700	1	a Shaw, Pamela J.4 aut
700	1	a Frosch, Matthew P.4 aut
700	1	a Alafuzoff, Irinau Uppsala universitet,Molekylär och morfologisk patologi4 aut0 (Swepub:uu)irial548
700	1	a Antonell, Anna4 aut
700	1	a Bogdanovic, Nenadu Karolinska Institutet4 aut
700	1	a Brooks, William4 aut
700	1	a Cairns, Nigel J.4 aut
700	1	a Cooper-Knock, Johnathan4 aut
700	1	a Cotman, Carl4 aut
700	1	a Cras, Patrick4 aut
700	1	a Cruts, Marc4 aut
700	1	a De Deyn, Peter P.4 aut
700	1	a DeCarli, Charles4 aut
700	1	a Dobson-Stone, Carol4 aut
700	1	a Engelborghs, Sebastiaan4 aut
700	1	a Fox, Nick4 aut
700	1	a Galasko, Douglas4 aut
700	1	a Gearing, Marla4 aut
700	1	a Gijselinck, Ilse4 aut
700	1	a Grafman, Jordan4 aut
700	1	a Hartikainen, Paivi4 aut
700	1	a Hatanpaa, Kimmo J.4 aut
700	1	a Highley, J. Robin4 aut
700	1	a Hodges, John4 aut
700	1	a Hulette, Christine4 aut
700	1	a Ince, Paul G.4 aut
700	1	a Jin, Lee-Way4 aut
700	1	a Kirby, Janine4 aut
700	1	a Kofler, Julia4 aut
700	1	a Kril, Jillian4 aut
700	1	a Kwok, John B. J.4 aut
700	1	a Levey, Allan4 aut
700	1	a Lieberman, Andrew4 aut
700	1	a Llado, Albert4 aut
700	1	a Martin, Jean-Jacques4 aut
700	1	a Masliah, Eliezer4 aut
700	1	a McDermott, Christopher J.4 aut
700	1	a McKee, Ann4 aut
700	1	a McLean, Catriona4 aut
700	1	a Mead, Simon4 aut
700	1	a Miller, Carol A.4 aut
700	1	a Miller, Josh4 aut
700	1	a Munoz, David G.4 aut
700	1	a Murrell, Jill4 aut
700	1	a Paulson, Henry4 aut
700	1	a Piguet, Olivier4 aut
700	1	a Rossor, Martin4 aut
700	1	a Sanchez-Valle, Raquel4 aut
700	1	a Sano, Mary4 aut
700	1	a Schneider, Julie4 aut
700	1	a Silbert, Lisa C.4 aut
700	1	a Spina, Salvatore4 aut
700	1	a van der Zee, Julie4 aut
700	1	a Van Langenhove, Tim4 aut
700	1	a Warren, Jason4 aut
700	1	a Wharton, Stephen B.4 aut
700	1	a White, Charles L., III4 aut
700	1	a Woltjer, Randall L.4 aut
700	1	a Trojanowski, John Q.4 aut
700	1	a Lee, Virginia M. Y.4 aut
700	1	a Van Deerlin, Vivianna4 aut
700	1	a Chen-Plotkin, Alice S.4 aut
710	2	a Uppsala universitetb Molekylär och morfologisk patologi4 org
773	0	t Acta Neuropathologicad : Springer Science and Business Media LLCg 127:3, s. 407-418q 127:3<407-418x 0001-6322x 1432-0533
856	4	u https://europepmc.org/articles/pmc4003885?pdf=render
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-222761
856	4 8	u https://doi.org/10.1007/s00401-013-1239-x
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:128369819

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Av författaren/redakt...: Gallagher, Micha ...; Suh, Eunran; Grossman, Murray; Elman, Lauren; McCluskey, Leo; Van Swieten, Joh ...; visa fler...; Al-Sarraj, Safa; Neumann, Manuela; Gelpi, Ellen; Ghetti, Bernardi ...; Rohrer, Jonathan ...; Halliday, Glenda; Van Broeckhoven, ...; Seilhean, Daniel ...; Shaw, Pamela J.; Frosch, Matthew ...; Alafuzoff, Irina; Antonell, Anna; Bogdanovic, Nena ...; Brooks, William; Cairns, Nigel J.; Cooper-Knock, Jo ...; Cotman, Carl; Cras, Patrick; Cruts, Marc; De Deyn, Peter P ...; DeCarli, Charles; Dobson-Stone, Ca ...; Engelborghs, Seb ...; Fox, Nick; Galasko, Douglas; Gearing, Marla; Gijselinck, Ilse; Grafman, Jordan; Hartikainen, Pai ...; Hatanpaa, Kimmo ...; Highley, J. Robi ...; Hodges, John; Hulette, Christi ...; Ince, Paul G.; Jin, Lee-Way; Kirby, Janine; Kofler, Julia; Kril, Jillian; Kwok, John B. J.; Levey, Allan; Lieberman, Andre ...; Llado, Albert; Martin, Jean-Jac ...; Masliah, Eliezer; McDermott, Chris ...; McKee, Ann; McLean, Catriona; Mead, Simon; Miller, Carol A.; Miller, Josh; Munoz, David G.; Murrell, Jill; Paulson, Henry; Piguet, Olivier; Rossor, Martin; Sanchez-Valle, R ...; Sano, Mary; Schneider, Julie; Silbert, Lisa C.; Spina, Salvatore; van der Zee, Jul ...; Van Langenhove, ...; Warren, Jason; Wharton, Stephen ...; White, Charles L ...; Woltjer, Randall ...; Trojanowski, Joh ...; Lee, Virginia M. ...; Van Deerlin, Viv ...; Chen-Plotkin, Al ...; visa färre...

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Av lärosätet: Uppsala universitet; Karolinska Institutet

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