Results 51 to 60 of about 10,755 (158)

Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records

BMC Medical Genomics, 2020
Background Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes.
Olivia J. Veatch, Christopher R. Bauer, Brendan T. Keenan, Navya S. Josyula, Diego R. Mazzotti, Kanika Bagai, Beth A. Malow, Janet D. Robishaw, Allan I. Pack, Sarah A. Pendergrass   +9 more
doaj   +1 more source

Human and Machine Intelligence Together Drive Drug Repurposing in Rare Diseases

Frontiers in Genetics, 2021
Repurposing is an increasingly attractive method within the field of drug development for its efficiency at identifying new therapeutic opportunities among approved drugs at greatly reduced cost and time of more traditional methods.
Anup P. Challa, Anup P. Challa, Nicole M. Zaleski, Rebecca N. Jerome, Robert R. Lavieri, Jana K. Shirey-Rice, April Barnado, Christopher J. Lindsell, David M. Aronoff, David M. Aronoff, David M. Aronoff, Leslie J. Crofford, Raymond C. Harris, T. Alp Ikizler, Ingrid A. Mayer, Kenneth J. Holroyd, Jill M. Pulley   +16 more
doaj   +1 more source

Dose‐dependent hepatotoxicity of hydrogen peroxide in HepG2 cells and its modulation by CYP450 induction

FEBS Open Bio, EarlyView.
NMR metabolomics revealed concentration‐dependent metabolic perturbations in HepG2 cells exposed to H2O2. Rifampicin pretreatment enhanced metabolic competence, attenuated toxin‐induced alterations and produced metabolite profiles more consistent with human liver physiology, supporting the use of CYP450‐induced HepG2 models for improved in vitro ...
Maren Jinks, Garth L. Maker, Emily C. Davies, Berin A. Boughton, Samantha Lodge   +4 more
wiley   +1 more source

Tumor‐Specific Delivery of CD28 siRNA via Lyso‐PC C‐16 Modified Lipid Nanoparticles Overcomes Anti‐PD‐1 Resistance by Remodeling Tumor Microenvironment

Advanced Science, EarlyView.
This study develops 16:0 LPC‐modified lipid nanoparticles (LPC‐LNPs) with cancer cell specificity by exploiting altered tumor lipid metabolism. LPC‐LNPs encapsulating Cd28 small interfering RNA (LPC‐LNP‐Cd28) knock down cancer cell CD28 without affecting T cells, inflame the tumor microenvironment, and overcome anti‐PD‐1 resistance.
Yangyang Chai, Keyu Wang, Jiali Fang, Shaorui Jia, Yansong Shi, Wanfeng Gao, Xinpeng Liu, Jiaqiang Li, Zenghui Cui, Yazhi Qian, Xiaosu Chen, Dan Ding, Xuetao Cao   +12 more
wiley   +1 more source

Single‐Cell RNA Editing Identifies T Cell ADAR1 as a Key Regulator of Immune Exhaustion and Anti‐PD‐1 Resistance in Colorectal Cancer

Advanced Science, EarlyView.
Single‐cell RNA editing analysis identifies ADAR1 as a regulator of dysfunctional T cell states in colorectal cancer. Elevated ADAR1 activity promotes T cell exhaustion and impairs antitumor immunity partly through TGF‐β‐SMAD signaling, contributing to anti‐PD‐1 resistance and highlighting T cell ADAR1 as a potential therapeutic target and biomarker ...
Da Kang, Song‐Zuo Xie, Yong‐Zhou Luo, Xin‐Pei Deng, Xi‐Rong Tan, Ze‐Geng Chen, Ling‐Xing Zeng, Gong Chen, Pei‐Rong Ding, Zhi‐Zhong Pan, Rong‐Xin Zhang   +10 more
wiley   +1 more source

Wearable‐Derived Diurnal Alignment Between Physical Activity and Device Temperature Predicts Future Disease and Mortality Risk

Advanced Science, EarlyView.
Wearable‐derived diurnal alignment between physical activity and device temperature, decomposed into 24 h coupling strength (M24), phase deviation (D24), and 12 h harmonic magnitude (M12), is examined in approximately 90,000 UK Biobank participants.
Han Chen, Jiahe Wei, Jonathan Cedernaes, Christian Benedict, Athanasios Tsanas, Zhi Cao, Xiao Tan   +6 more
wiley   +1 more source

An integrative functional genomics framework for effective identification of novel regulatory variants in genome–phenome studies

Genome Medicine, 2018
Background Genome–phenome studies have identified thousands of variants that are statistically associated with disease or traits; however, their functional roles are largely unclear.
Junfei Zhao, Feixiong Cheng, Peilin Jia, Nancy Cox, Joshua C. Denny, Zhongming Zhao   +5 more
doaj   +1 more source

Large‐scale Whole‐Exome Sequencing Defines the Protein‐Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases

Advanced Science, EarlyView.
Large‐scale whole‐exome sequencing in 356,982 UK Biobank participants defines the protein‐coding architecture of retinal structure, visual function, and major blinding diseases. Pleiotropic genes, including CFI, C3, and RIOX1, bridge multiple retinal phenotypes, while experimental validation of FYB2 implicates RPE barrier dysfunction, providing ...
Jianqing Li, Yijun Ge, Jingxiao Du, Liu Yang, Bangsheng Wu, Chenyue Hang, Mengxi Shen, Yimin Mao, Ting Zhang, Qiyu Bo, Tianyuan Zhao, Yutian Jiao, Yazhi Wang, Shunxiang Gao, Jieqiong Chen, Junran Sun, Tong Li, Huixun Jia, Yang Dou, Wei Cheng, Xiaoling Wan, Jintai Yu, Xiaodong Sun, Bai Lu   +23 more
wiley   +1 more source

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

Genome Medicine, 2021
Background Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum ...
Mikhail Vysotskiy, Xue Zhong, Tyne W. Miller-Fleming, Dan Zhou, Autism Working Group of the Psychiatric Genomics Consortium^, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium^, Schizophrenia Working Group of the Psychiatric Genomics Consortium^, Nancy J. Cox, Lauren A. Weiss   +8 more
doaj   +1 more source

Analysis of HLA Variants and Graves’ Disease and Its Comorbidities Using a High Resolution Imputation System to Examine Electronic Medical Health Records

Frontiers in Endocrinology, 2022
Hyperthyroidism is a prevalent endocrine disorder, and genetics play a major role in the development of thyroid-associated diseases. In particular, the inheritance of HLA has been demonstrated to induce the highest susceptibility to Graves’ disease (GD).
Wen-Ling Liao, Wen-Ling Liao, Ting-Yuan Liu, Chi-Fung Cheng, Yu-Pao Chou, Yu-Pao Chou, Tzu-Yuan Wang, Ya-Wen Chang, Ya-Wen Chang, Shih-Yin Chen, Shih-Yin Chen, Fuu-Jen Tsai, Fuu-Jen Tsai   +12 more
doaj   +1 more source