The impact of rare variation on gene expression across tissues

Autor: Li, Xin, Kim, Yungil, Tsang, Emily K, Davis, Joe R, Damani, Farhan N, Chiang, Colby, Hess, Gaelen T, Zappala, Zachary, Strober, Benjamin J, Scott, Alexandra J, Li, Amy, Ganna, Andrea, Bassik, Michael C, Merker, Jason D, 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, Ira M, Battle, Alexis, Montgomery, Stephen B

Publikováno v: Nature, vol 550, iss 7675

Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not pract

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::1bf49e01e92b38495418fe06bd9eb268
https://escholarship.org/uc/item/8n25b8s7

An epigenetic switch controls an alternative NR2F2 isoform 2 that unleashes a metastatic program in melanoma

Autor: Davalos, Verónica, Lovell, Claudia, von Itter, Richard, Dolgalev, Igor, Agrawal, Praveen, Baptiste, Gillian, Kahler, David, Sokolova, Elena, Moran, Sebastian, Piqué, Laia, Vega-Saenz de Miera, Eleazar, Fontanals-Cirera, Barbara, Karz, Alcida, Tsirigos, Aristotelis, Yun, Chi, Darvishian, Farbod, Etchevers, Heather, Osman, Iman, Esteller, Manel, Schober, Markus, Hernando, Eva

Publikováno v: Nature Communications
Nature Communications, In press, 14 (1), pp.1867. ⟨10.1038/s41467-023-36967-2⟩

International audience; Metastatic melanoma develops once transformed melanocytic cells begin to de-differentiate into migratory and invasive melanoma cells with neural crest cell (NCC)-like and epithelial-tomesenchymal transition (EMT)-like features

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3430::84b36dc97288bc875930599b2fd98021
https://hal-amu.archives-ouvertes.fr/hal-04007075

NK cells and solid tumors: therapeutic potential and persisting obstacles

Autor: Le Tong, Carlos Jiménez-Cortegana, Apple H.M. Tay, Stina Wickström, Lorenzo Galluzzi, Andreas Lundqvist

Publikováno v: Molecular cancer. 21(1)

Natural killer (NK) cells, which are innate lymphocytes endowed with potent cytotoxic activity, have recently attracted attention as potential anticancer therapeutics. While NK cells mediate encouraging responses in patients with leukemia, the therap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::523e002d6b4c4bc852696da92be0cf57
https://pubmed.ncbi.nlm.nih.gov/36319998

Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci

Autor: Chen, Hongjie, Fan, Shaoqi, Stone, Jennifer, Thompson, Deborah J, Douglas, Julie, Li, Shuai, Scott, Christopher, Bolla, Manjeet K, Wang, Qin, Dennis, Joseph, Michailidou, Kyriaki, Li, Christopher, Peters, Ulrike, Hopper, John L, Southey, Melissa C, Nguyen-Dumont, Tu, Nguyen, Tuong L, Fasching, Peter A, Behrens, Annika, Cadby, Gemma, Murphy, Rachel A, Aronson, Kristan, Howell, Anthony, Astley, Susan, Couch, Fergus, Olson, Janet, Milne, Roger L, Giles, Graham G, Haiman, Christopher A, Maskarinec, Gertraud, Winham, Stacey, John, Esther M, Kurian, Allison, Eliassen, Heather, Andrulis, Irene, Evans, D Gareth, Newman, William G, Hall, Per, Czene, Kamila, Swerdlow, Anthony, Jones, Michael, Pollan, Marina, Fernandez-Navarro, Pablo, McConnell, Daniel S, Kristensen, Vessela N, NBCS Investigators, Rothstein, Joseph H, Wang, Pei, Habel, Laurel A, Sieh, Weiva, Dunning, Alison M, Pharoah, Paul, Easton, Douglas F, Gierach, Gretchen L, Tamimi, Rulla M, Vachon, Celine M, Lindström, Sara

Publikováno v: Repisalud
Instituto de Salud Carlos III (ISCIII)
Chen, H, Fan, S, Stone, J, Thompson, D J, Douglas, J, Li, S, Scott, C, Bolla, M K, Wang, Q, Dennis, J, Michailidou, K, Li, C, Peters, U, Hopper, J L, Southey, M C, Nguyen-dumont, T, Nguyen, T L, Fasching, P A, Behrens, A, Cadby, G, Murphy, R A, Aronson, K, Howell, A, Astley, S, Couch, F, Olson, J, Milne, R L, Giles, G G, Haiman, C A, Maskarinec, G, Winham, S, John, E M, Kurian, A, Eliassen, H, Andrulis, I, Evans, D G, Newman, W G, Hall, P, Czene, K, Swerdlow, A, Jones, M, Pollan, M, Fernandez-navarro, P, Mcconnell, D S, Kristensen, V N, Rothstein, J H, Wang, P, Habel, L A, Sieh, W, Dunning, A M, Pharoah, P D P, Easton, D F, Gierach, G L, Tamimi, R M, Vachon, C M & Lindström, S 2022, ' Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci ', Breast Cancer Research, vol. 24, no. 1 . https://doi.org/10.1186/s13058-022-01524-0

Background: Mammographic density (MD) phenotypes, including percent density (PMD), area of dense tissue (DA), and area of non-dense tissue (NDA), are associated with breast cancer risk. Twin studies suggest that MD phenotypes are highly heritable. Ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4670b79574f09d39343b94248ad70d4

Le VIH-1, un lentivirus au potentiel d’endogénisation dans la lignée germinale humaine ?

Autor: Mahé, Dominique, Matusali, G, Deleage, C, Alvarenga, R, Satie, A.-P, Pagliuzza, A, Mathieu, R, Lavoué, S, Jégou, B, Chomont, N, de França, L.R, Houzet, L, Rolland, Antoine D., Dejucq-Rainsford, Nathalie

Publikováno v: XXIIeme Journées Francophones de Virologie, Institut PASTEUR de Paris
XXIIeme Journées Francophones de Virologie, Institut PASTEUR de Paris, Apr 2020, Paris, France

National audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::401cd73eef303187231afd201bfa608d
https://hal-univ-rennes1.archives-ouvertes.fr/hal-02438683