Results 71 to 80 of about 795,608 (343)

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Nature Communications, 2017
Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and ...
Romina Petersen, John J. Lambourne, Biola M. Javierre, Luigi Grassi, Roman Kreuzhuber, Dace Ruklisa, Isabel M. Rosa, Ana R. Tomé, Heather Elding, Johanna P. van Geffen, Tao Jiang, Samantha Farrow, Jonathan Cairns, Abeer M. Al-Subaie, Sofie Ashford, Antony Attwood, Joana Batista, Heleen Bouman, Frances Burden, Fizzah A. Choudry, Laura Clarke, Paul Flicek, Stephen F. Garner, Matthias Haimel, Carly Kempster, Vasileios Ladopoulos, An-Sofie Lenaerts, Paulina M. Materek, Harriet McKinney, Stuart Meacham, Daniel Mead, Magdolna Nagy, Christopher J. Penkett, Augusto Rendon, Denis Seyres, Benjamin Sun, Salih Tuna, Marie-Elise van der Weide, Steven W. Wingett, Joost H. Martens, Oliver Stegle, Sylvia Richardson, Ludovic Vallier, David J. Roberts, Kathleen Freson, Lorenz Wernisch, Hendrik G. Stunnenberg, John Danesh, Peter Fraser, Nicole Soranzo, Adam S. Butterworth, Johan W. Heemskerk, Ernest Turro, Mikhail Spivakov, Willem H. Ouwehand, William J. Astle, Kate Downes, Myrto Kostadima, Mattia Frontini   +58 more
doaj   +1 more source

Chromatin interaction maps reveal genetic regulation for quantitative traits in maize

Nature Communications, 2019
Chromatin loops connect regulatory elements to their target genes. They serve as bridges between transcriptional regulation and phenotypic variation in mammals.
Yong Peng, Dan Xiong, Lun Zhao, Weizhi Ouyang, Shuangqi Wang, Jun Sun, Qing Zhang, Pengpeng Guan, Liang Xie, Wenqiang Li, Guoliang Li, Jianbing Yan, Xingwang Li   +12 more
semanticscholar   +1 more source

Associations between novel genetic variants in the promoter region ofMALAT1and risk of colorectal cancer [PDF]

Oncotarget, 2017
The metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), a well-known long non-coding RNA, is involved in pathogenesis and progress of multiple tumors. However, no study has been performed to investigate the relationship between the genetic variants in promoter region of MALAT1 and colorectal cancer risk.
Fangyuan Jing, Chunhong Fan, Ding Ye, Chengzhen Bao, Simeng Gu, Mingjuan Jin, Kun Chen, Yingjun Li   +7 more
openaire   +3 more sources

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

A High-Throughput Strategy for Dissecting Mammalian Genetic Interactions. [PDF]

PLoS ONE, 2016
Comprehensive delineation of complex cellular networks requires high-throughput interrogation of genetic interactions. To address this challenge, we describe the development of a multiplex combinatorial strategy to assess pairwise genetic interactions ...
Victoria B Stockman, Lila Ghamsari, Gorka Lasso, Barry Honig, Sagi D Shapira, Harris H Wang   +5 more
doaj   +1 more source

Genetic polymorphism of the Nrf2 promoter region is associated with vitiligo risk in Han Chinese populations [PDF]

Journal of Cellular and Molecular Medicine, 2016
AbstractThe nuclear factor erythroid‐derived two‐like 2‐antioxidant response element (Nrf2‐ARE) pathway and its downstream antioxidant enzyme heme oxygenase‐1 (HMOX1 or HO‐1) play essential roles in H2O2‐induced oxidative damage in human melanocytes. However, the link between Nrf2 promoter polymorphisms and susceptibility to oxidative stress‐related ...
Ling Liu, Pu Song, Xiaowen Wang, Weigang Zhang, Tianwen Gao, Chunying Li, Gang Wang, Zhe Jian, Kai Li   +8 more
openaire   +3 more sources

B cell mechanobiology in health and disease: emerging techniques and insights into therapeutic responses

FEBS Letters, EarlyView.
B cells sense external mechanical forces and convert them into biochemical signals through mechanotransduction. Understanding how malignant B cells respond to physical stimuli represents a groundbreaking area of research. This review examines the key mechano‐related molecules and pathways in B lymphocytes, highlights the most relevant techniques to ...
Marta Sampietro, Marco Cellani, Cristina Scielzo   +2 more
wiley   +1 more source

Promoter analysis of macrophage- and tick cell-specific differentially expressed Ehrlichia chaffeensis p28-Omp genes

BMC Microbiology, 2009
Background Ehrlichia chaffeensis is a rickettsial agent responsible for an emerging tick-borne illness, human monocytic ehrlichiosis. Recently, we reported that E. chaffeensis protein expression is influenced by macrophage and tick cell environments.
Ganta Roman R, Cheng Chuanmin, Peddireddi Lalitha   +2 more
doaj   +1 more source

Promoter sequence and architecture determine expression variability and confer robustness to genetic variants

eLife, 2022
Genetic and environmental exposures cause variability in gene expression. Although most genes are affected in a population, their effect sizes vary greatly, indicating the existence of regulatory mechanisms that could amplify or attenuate expression ...
Hjörleifur Einarsson, Marco Salvatore, Christian Vaagensø, Nicolas Alcaraz, Jette Bornholdt, Sarah Rennie, Robin Andersson   +6 more
doaj   +1 more source

Hypomethylation of CYP2E1 and DUSP22 Promoters Associated With Disease Activity and Erosive Disease Among Rheumatoid Arthritis Patients. [PDF]

, 2018
OBJECTIVE:Epigenetic modifications have previously been associated with rheumatoid arthritis (RA). In this study, we aimed to determine whether differential DNA methylation in peripheral blood cell subpopulations is associated with any of 4 clinical ...
Barcellos, Lisa F, Chernitskiy, Vladimir, Criswell, Lindsey A, Graf, Jonathan, Harrison, Ruby, Holingue, Calliope, Imboden, John, Link, Thomas, Mok, Amanda, Quach, Diana, Quach, Hong L, Rhead, Brooke, Shao, Xiaorong, Sinclair, Elizabeth   +13 more
core   +1 more source