Landscape of X chromosome inactivation across human tissues

Autor: Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A, Marshall, Jamie L, Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B, Castel, Stephane E, Karczewski, Konrad J, Aguet, François, Byrnes, Andrea, 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, Tuuli, Regev, Aviv, Ardlie, Kristin G, Hacohen, Nir, MacArthur, Daniel G

Publikováno v: Nature, vol 550, iss 7675

X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::0a24cb9a9dc84dd453f14933ec92f26e
https://escholarship.org/uc/item/3j47t40b

Integrated genomic and molecular characterization of cervical cancer

Autor: Cancer Genome Atlas Research Network, Albert Einstein College of Medicine, Analytical Biological Services, Barretos Cancer Hospital, Baylor College of Medicine, Beckman Research Institute of City of Hope, Buck Institute for Research on Aging, Canada's Michael Smith Genome Sciences Centre, Harvard Medical School, Helen F. Graham Cancer Center &Research Institute at Christiana Care Health Services, HudsonAlpha Institute for Biotechnology, ILSbio, LLC, Indiana University School of Medicine, Institute of Human Virology, Institute for Systems Biology, International Genomics Consortium, Leidos Biomedical, Massachusetts General Hospital, McDonnell Genome Institute at Washington University, Medical College of Wisconsin, Medical University of South Carolina, Memorial Sloan Kettering Cancer Center, Montefiore Medical Center, NantOmics, National Cancer Institute, National Hospital, Abuja, Nigeria, National Human Genome Research Institute, National Institute of Environmental Health Sciences, National Institute on Deafness &Other Communication Disorders, Ontario Tumour Bank, London Health Sciences Centre, Ontario Tumour Bank, Ontario Institute for Cancer Research, Ontario Tumour Bank, The Ottawa Hospital, Oregon Health &Science University, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, SRA International, St Joseph's Candler Health System, Eli &Edythe L. Broad Institute of Massachusetts Institute of Technology &Harvard University, Research Institute at Nationwide Children's Hospital, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University, University of Bergen, University of Texas MD Anderson Cancer Center, University of Abuja Teaching Hospital, University of Alabama at Birmingham, University of California, Irvine, University of California Santa Cruz, University of Kansas Medical Center, University of Lausanne, University of New Mexico Health Sciences Center, University of North Carolina at Chapel Hill, University of Oklahoma Health Sciences Center, University of Pittsburgh, University of São Paulo, Ribeir ão Preto Medical School, University of Southern California, University of Washington, University of Wisconsin School of Medicine &Public Health, Van Andel Research Institute, Washington University in St Louis

Publikováno v: Nature, vol 543, iss 7645

Cervical cancer remains one of the leading causes of cancer-related deaths worldwide. Here we report the extensive molecular characterization of 228 primary cervical cancers, one of the largest comprehensive genomic studies of cervical cancer to date

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0e44b69213d674d6e55a8352e5ba7565
https://escholarship.org/uc/item/1j13q58s

Origin of HIV/SIV in semen

Autor: Houzet, L, Pérez-Losada, M, Matusali, G, Deleage, C, Dereuddre-Bosquet, N, Satie, A.-P, Jégou, B., Le Grand, R., Keele, B, Crandall, K.A, Dejucq-Rainsford, Nathalie

Publikováno v: HIV research for prevention (HIVR4P) conference, satellite symposium
HIV research for prevention (HIVR4P) conference, satellite symposium, Oct 2016, Chicago, United States
HIV research for prevention (HIVR4P) conference
HIV research for prevention (HIVR4P) conference, Oct 2016, Chicago, United States

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9c5ebcc77dd4c2f6b50010a0dd9d9908
https://hal.archives-ouvertes.fr/hal-02436946

APOL1 Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study

Autor: Sophie Limou, Ernest Kiswaya Sumaili, Cheryl A. Winkler, Michel Jadoul, Victor A. David, Elizabeth Binns-Roemer, Mannix Imani Masimango

Publikováno v: Kidney International Reports
Kidney International Reports, 2021, 7 (3), pp.474-482. ⟨10.1016/j.ekir.2021.09.018⟩

International audience; Introduction: APOL1, GSTM1 risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) among African Americans (AAs). Nevertheless, such evidence remains scarce in sub-Saharan Africa (SSA) popul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a51b8ea98fe562d7a0290be93b1209
https://doi.org/10.1016/j.ekir.2021.09.018

Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes

Autor: Cheryl A. Winkler, Daeui Park, Kyeong Kyu Kim, Hong-Hee Won, Raul Cachau, Do Hyeon Cha, Seungho Ryu, Sung Kweon Cho, Sophie Limou, Heon Yung Gee, Woojae Myung, Sun Ha Jee, Jong Mun Choi

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports
Scientific Reports, 2019, 9 (1), pp.14360. ⟨10.1038/s41598-019-50798-6⟩
Scientific Reports, Nature Publishing Group, 2019, 9 (1), pp.14360. ⟨10.1038/s41598-019-50798-6⟩

Differentiating between inherited renal hypouricemia and transient hypouricemic status is challenging. Here, we aimed to describe the genetic background of hypouricemia patients using whole-exome sequencing (WES) and assess the feasibility for geneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6d38de6daf1b71710903d935ce73cfd
https://doaj.org/article/439031d527bb4924b5f4d7dc8ff62cb2