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Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.
Kasela S, Aguet F, Kim-Hellmuth S, Brown BC, Nachun DC, Tracy RP, Durda P, Liu Y, Taylor KD, Johnson WC, Van Den Berg D, Gabriel S, Gupta N, Smith JD, Blackwell TW, Rotter JI, Ardlie KG, Manichaikul A, Rich SS, Barr RG, Lappalainen T. Kasela S, et al. Among authors: aguet f. Am J Hum Genet. 2024 Jan 4;111(1):133-149. doi: 10.1016/j.ajhg.2023.11.013. Am J Hum Genet. 2024. PMID: 38181730
Role of the clathrin adaptor PICALM in normal hematopoiesis and polycythemia vera pathophysiology.
Ishikawa Y, Maeda M, Pasham M, Aguet F, Tacheva-Grigorova SK, Masuda T, Yi H, Lee SU, Xu J, Teruya-Feldstein J, Ericsson M, Mullally A, Heuser J, Kirchhausen T, Maeda T. Ishikawa Y, et al. Among authors: aguet f. Haematologica. 2015 Apr;100(4):439-51. doi: 10.3324/haematol.2014.119537. Epub 2014 Dec 31. Haematologica. 2015. PMID: 25552701 Free PMC article.
Key interactions for clathrin coat stability.
Böcking T, Aguet F, Rapoport I, Banzhaf M, Yu A, Zeeh JC, Kirchhausen T. Böcking T, et al. Among authors: aguet f. Structure. 2014 Jun 10;22(6):819-29. doi: 10.1016/j.str.2014.04.002. Epub 2014 May 8. Structure. 2014. PMID: 24815030 Free PMC article.
Liquid versus tissue biopsy for detecting acquired resistance and tumor heterogeneity in gastrointestinal cancers.
Parikh AR, Leshchiner I, Elagina L, Goyal L, Levovitz C, Siravegna G, Livitz D, Rhrissorrakrai K, Martin EE, Van Seventer EE, Hanna M, Slowik K, Utro F, Pinto CJ, Wong A, Danysh BP, de la Cruz FF, Fetter IJ, Nadres B, Shahzade HA, Allen JN, Blaszkowsky LS, Clark JW, Giantonio B, Murphy JE, Nipp RD, Roeland E, Ryan DP, Weekes CD, Kwak EL, Faris JE, Wo JY, Aguet F, Dey-Guha I, Hazar-Rethinam M, Dias-Santagata D, Ting DT, Zhu AX, Hong TS, Golub TR, Iafrate AJ, Adalsteinsson VA, Bardelli A, Parida L, Juric D, Getz G, Corcoran RB. Parikh AR, et al. Among authors: aguet f. Nat Med. 2019 Sep;25(9):1415-1421. doi: 10.1038/s41591-019-0561-9. Epub 2019 Sep 9. Nat Med. 2019. PMID: 31501609 Free PMC article.
Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease.
Klarin D, Zhu QM, Emdin CA, Chaffin M, Horner S, McMillan BJ, Leed A, Weale ME, Spencer CCA, Aguet F, Segrè AV, Ardlie KG, Khera AV, Kaushik VK, Natarajan P; CARDIoGRAMplusC4D Consortium; Kathiresan S. Klarin D, et al. Among authors: aguet f. Nat Genet. 2017 Sep;49(9):1392-1397. doi: 10.1038/ng.3914. Epub 2017 Jul 17. Nat Genet. 2017. PMID: 28714974 Free PMC article.
The impact of rare variation on gene expression across tissues.
Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Hall IM, Battle A, Montgomery SB. Li X, et al. Nature. 2017 Oct 11;550(7675):239-243. doi: 10.1038/nature24267. Nature. 2017. PMID: 29022581 Free PMC article.
Genetic effects on gene expression across human tissues.
GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lead analysts:; Laboratory, Data Analysis &Coordinating Center (LDACC):; NIH program management:; Biospecimen collection:; Pathology:; eQTL manuscript working group:; Battle A, Brown CD, Engelhardt BE, Montgomery SB. GTEx Consortium, et al. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277. Nature. 2017. PMID: 29022597 Free PMC article.
Landscape of X chromosome inactivation across human tissues.
Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG. Tukiainen T, et al. Among authors: aguet f. Nature. 2017 Oct 11;550(7675):244-248. doi: 10.1038/nature24265. Nature. 2017. PMID: 29022598 Free PMC article.
158 results