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Genetic and epigenetic studies of adiposity and cardiometabolic disease
Springer Science and Business Media LLC - - 2017
Michael V. Holmes, Sara L. Pulit, Cecilia M. Lindgren
Mitochondrial DNA copy number can influence mortality and cardiovascular disease via methylation of nuclear DNA CpGs
Springer Science and Business Media LLC - - 2020
Christina A. Castellani, Ryan J. Longchamps, Jason A. Sumpter, Charles E. Newcomb, John A. Lane, Megan L. Grove, Jan Bressler, Jennifer A. Brody, James S. Floyd, Traci M. Bartz, Kent D. Taylor, Penglong Wang, Adrienne Tin, Josef Coresh, James S. Pankow, Myriam Fornage, Eliseo Guallar, Brian O’Rourke, Nathan Pankratz, Chunyu Liu, Daniel Levy, Nona Sotoodehnia, Eric Boerwinkle, Dan E. Arking
Mitochondrial DNA copy number (mtDNA-CN) has been associated with a variety of aging-related diseases, including all-cause mortality. However, the mechanism by which mtDNA-CN influences disease is not currently understood. One such mechanism may be through regulation of nuclear gene expression via the modification of nuclear DNA (nDNA) methylation. To investigate this hypothesis, we assessed the r... hiện toàn bộ
Hồ sơ chuyển hóa huyết thanh như một phương tiện để phân biệt giai đoạn ung thư đại trực tràng Dịch bởi AI
Springer Science and Business Media LLC - Tập 4 - Trang 1-13 - 2012
Farshad Farshidfar, Aalim M Weljie, Karen Kopciuk, W Don Buie, Anthony MacLean, Elijah Dixon, Francis R Sutherland, Andrea Molckovsky, Hans J Vogel, Oliver F Bathe
Hiện nay, ung thư đại trực tràng (CRC) được phân giai đoạn trước phẫu thuật bằng các xét nghiệm hình ảnh và sau phẫu thuật bằng đánh giá bệnh lý của các mẫu phẫu thuật có sẵn. Tuy nhiên, các phương pháp phân giai đoạn hiện nay không xác định chính xác các di căn tiềm ẩn. Điều này ảnh hưởng trực tiếp đến quản lý lâm sàng. Việc phát hiện sớm các di căn giới hạn ở gan có thể cho phép cắt bỏ phẫu thuậ... hiện toàn bộ
#ung thư đại trực tràng #di căn #hồ sơ chuyển hóa huyết thanh #phân giai đoạn #hóa trị liệu
Intra-tumor heterogeneity: lessons from microbial evolution and clinical implications
Springer Science and Business Media LLC - Tập 5 - Trang 1-11 - 2013
Elza C de Bruin, Tiffany B Taylor, Charles Swanton
Multiple subclonal populations of tumor cells can coexist within the same tumor. This intra-tumor heterogeneity will have clinical implications and it is therefore important to identify factors that drive or suppress such heterogeneous tumor progression. Evolutionary biology can provide important insights into this process. In particular, experimental evolution studies of microbial populations, wh... hiện toàn bộ
Integrating single-cell sequencing data with GWAS summary statistics reveals CD16+monocytes and memory CD8+T cells involved in severe COVID-19
Springer Science and Business Media LLC - Tập 14 - Trang 1-21 - 2022
Yunlong Ma, Fei Qiu, Chunyu Deng, Jingjing Li, Yukuan Huang, Zeyi Wu, Yijun Zhou, Yaru Zhang, Yichun Xiong, Yinghao Yao, Yigang Zhong, Jia Qu, Jianzhong Su
Understanding the host genetic architecture and viral immunity contributes to the development of effective vaccines and therapeutics for controlling the COVID-19 pandemic. Alterations of immune responses in peripheral blood mononuclear cells play a crucial role in the detrimental progression of COVID-19. However, the effects of host genetic factors on immune responses for severe COVID-19 remain la... hiện toàn bộ
ENVE: a novel computational framework characterizes copy-number mutational landscapes in colorectal cancers from African American patients
Springer Science and Business Media LLC - Tập 7 - Trang 1-15 - 2015
Vinay Varadan, Salendra Singh, Arman Nosrati, Lakshmeswari Ravi, James Lutterbaugh, Jill S. Barnholtz-Sloan, Sanford D. Markowitz, Joseph E. Willis, Kishore Guda
Reliable detection of somatic copy-number alterations (sCNAs) in tumors using whole-exome sequencing (WES) remains challenging owing to technical (inherent noise) and sample-associated variability in WES data. We present a novel computational framework, ENVE, which models inherent noise in any WES dataset, enabling robust detection of sCNAs across WES platforms. ENVE achieved high concordance with... hiện toàn bộ
Improved coverage and accuracy with strand-conserving sequence enrichment
Springer Science and Business Media LLC - Tập 5 - Trang 1-3 - 2013
Toumy Guettouche, Stephan Zuchner
Targeted next-generation sequencing is becoming a common tool in the molecular diagnostic laboratory. However, currently available methods to enrich for regions of interest in the DNA sequence suffer from drawbacks such as high cost, complex protocols, lack of clinical-level accuracy and uneven target coverage. A target-enrichment approach using complementary long padlock probes described in a rec... hiện toàn bộ
Trans-ethnic gut microbial signatures of prediabetic subjects from India and Denmark
Springer Science and Business Media LLC - Tập 13 - Trang 1-20 - 2021
Nishal Kumar Pinna, Ranjit Mohan Anjana, Shruti Saxena, Anirban Dutta, Visvanathan Gnanaprakash, Gnanavadivel Rameshkumar, Sukumaran Aswath, Srividhya Raghavan, Coimbatore Subramanian Shanthi Rani, Venkatesan Radha, Muthuswamy Balasubramanyam, Archana Pant, Trine Nielsen, Torben Jørgensen, Kristine Færch, Alireza Kashani, Maria Camila Alvarez Silva, Henrik Vestergaard, Tue Haldor Hansen, Torben Hansen, Manimozhiyan Arumugam, Gopinath Balakrish Nair, Bhabatosh Das, Oluf Pedersen, Viswanathan Mohan, Sharmila Shekhar Mande
Recent studies have indicated an association of gut microbiota and microbial metabolites with type 2 diabetes mellitus (T2D). However, large-scale investigation of the gut microbiota of “prediabetic” (PD) subjects has not been reported. Identifying robust gut microbiome signatures of prediabetes and characterizing early prediabetic stages is important for the understanding of disease development a... hiện toàn bộ
Genomic medicine: considerations for health professionals and the public
Springer Science and Business Media LLC - Tập 1 - Trang 1-4 - 2009
Denise Avard, Bartha Maria Knoppers
Advances in human genomics are ushering in a new era of predictive, preventative and personalized approaches to medicine. However, as the integration of genomic medicine progresses, the health community has a responsibility to communicate to the public the risks and challenges of genetic information. A possible knowledge transfer framework is outlined as a means to bridge the practical uses of gen... hiện toàn bộ
Intra-host variation and evolutionary dynamics of SARS-CoV-2 populations in COVID-19 patients
Springer Science and Business Media LLC - Tập 13 - Trang 1-13 - 2021
Yanqun Wang, Daxi Wang, Lu Zhang, Wanying Sun, Zhaoyong Zhang, Weijun Chen, Airu Zhu, Yongbo Huang, Fei Xiao, Jinxiu Yao, Mian Gan, Fang Li, Ling Luo, Xiaofang Huang, Yanjun Zhang, Sook-san Wong, Xinyi Cheng, Jingkai Ji, Zhihua Ou, Minfeng Xiao, Min Li, Jiandong Li, Peidi Ren, Ziqing Deng, Huanzi Zhong, Xun Xu, Tie Song, Chris Ka Pun Mok, Malik Peiris, Nanshan Zhong, Jingxian Zhao, Yimin Li, Junhua Li, Jincun Zhao
Since early February 2021, the causative agent of COVID-19, SARS-CoV-2, has infected over 104 million people with more than 2 million deaths according to official reports. The key to understanding the biology and virus-host interactions of SARS-CoV-2 requires the knowledge of mutation and evolution of this virus at both inter- and intra-host levels. However, despite quite a few polymorphic sites i... hiện toàn bộ
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