Results 111 to 120 of about 3,091,688 (344)

Genome-wide association study identifies 30 loci associated with bipolar disorder. [PDF]

open access: yes, 2019
Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P < 1 × 10-4 in an additional
Abbott, Liam   +99 more
core  

Real‐time assay of ribonucleotide reductase activity with a fluorescent RNA aptamer

open access: yesFEBS Letters, EarlyView.
Ribonucleotide reductases (RNR) synthesize DNA building blocks de novo, making them crucial in DNA replication and drug targeting. FLARE introduces the first single‐tube real‐time coupled RNR assay, which enables isothermal tracking of RNR activity at nanomolar enzyme levels and allows the reconstruction of allosteric regulatory patterns and rapid ...
Jacopo De Capitani   +4 more
wiley   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

open access: yesFEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

TIMP4 as a Potential Complementary Biomarker and Therapeutic Target in Membranous Nephropathy: A Multi-Omics Investigation with Clinical Validation

open access: yesJournal of Inflammation Research
Qingsong Chen, Gang Wang, Ruo Zhao, Qiyuan Hu, Jiayun Li, Yuting Wang, Jingyang Ran, Qi Huang, Guiquan Yu, Yanjia Luo, Xiaohui Liao Department of Nephrology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, People’s Republic of ...
Chen Q   +10 more
doaj  

Genome-wide Association Study of Peripheral Artery Disease in the Million Veteran Program

open access: yesNature Network Boston, 2019
Peripheral artery disease (PAD) is a leading cause of cardiovascular morbidity and mortality; however, the extent to which genetic factors increase risk for PAD is largely unknown.
D. Klarin   +35 more
semanticscholar   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

open access: yesMolecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

open access: yeseLife, 2018
Uterine leiomyomas (ULs) are benign tumors that are a major burden to women’s health. A genome-wide association study on 15,453 UL cases and 392,628 controls was performed, followed by replication of the genomic risk in six cohorts.
Niko Välimäki   +17 more
doaj   +1 more source

A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits

open access: yesNature Genetics, 2009
To identify genetic factors influencing quantitative traits of biomedical importance, we conducted a genome-wide association study in 8,842 samples from population-based cohorts recruited in Korea.
Y. Cho   +31 more
semanticscholar   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

open access: yesMolecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes   +20 more
wiley   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

open access: yesMolecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser   +11 more
wiley   +1 more source

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