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UnknownThe <i>FANCM</i>:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been prop...
S-EPMC6825205 | biostudies-literature
UnknownNovel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.
Elevated blood pressure is a major risk factor for cardiovascular disease and has a substantial genetic contribution. Genetic variation influencing blood pressure has the potential to identify new pharmacological targets for the treatment of hypertension. To discover additional novel blood pressure ...
S-EPMC5783787 | biostudies-literature
UnknownElective Cancer Surgery in COVID-19-Free Surgical Pathways During the SARS-CoV-2 Pandemic: An International, Multicenter, Comparative Cohort Study.

Purpose

As cancer surgery restarts after the first COVID-19 wave, health care providers urgently require data to determine where elective surgery is best performed. This study aimed to determine whether COVID-19-free surgical pathways were associated with lower postoperative pulmonary compli...
S-EPMC8189635 | biostudies-literature
TranscriptomicsA gene expression signature of emphysema-related lung destruction and its reversal by the tripeptide GHK.
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is a heterogeneous disease consisting of emphysema, small airway obstruction, and/or chronic bronchitis that results in significant loss of lung function over time. METHODS: In order to gain insights into the molecular pathways underlying prog...
ORGANISM(S): Homo sapiens 
2012-09-11 | E-GEOD-27597 | biostudies-arrayexpress
MetabolomicsLipid biomarkers for algal resistance to viral infection in the ocean

Marine viruses play a key role in regulating phytoplankton populations, greatly affecting the biogeochemical cycling of major nutrients in the ocean. Resistance to viral infection has been reported for various phytoplankton species under laboratory conditions. Nevertheless, the occurrence of resi...

2023-06-12 | MTBLS3323 | MetaboLights
UnknownGenetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity.

Background

Recently, common genetic risk factors for intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (ASAH) were found to explain a large amount of disease heritability and therefore have potential to be used for genetic risk prediction. We constructed a genetic risk score ...
S-EPMC9951795 | biostudies-literature
UnknownIncorporating Concomitant Medications into Genome-Wide Analyses for the Study of Complex Disease and Drug Response.
Given the high costs of conducting a drug-response trial, researchers are now aiming to use retrospective analyses to conduct genome-wide association studies (GWAS) to identify underlying genetic contributions to drug-response variation. To prevent confounding results from a GWAS to investigate drug...
S-EPMC5013254 | biostudies-literature
UnknownPrioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure.

Introduction

Blood pressure (BP) is a highly heritable trait with over 2000 underlying genomic loci identified to date. Although the kidney plays a key role, little is known about specific cell types involved in the genetic regulation of BP.

Methods

Here, we applied stratified linkage...
S-EPMC11184402 | biostudies-literature
UnknownPrognostic model to predict postoperative acute kidney injury in patients undergoing major gastrointestinal surgery based on a national prospective observational cohort study.

Background

Acute illness, existing co-morbidities and surgical stress response can all contribute to postoperative acute kidney injury (AKI) in patients undergoing major gastrointestinal surgery. The aim of this study was prospectively to develop a pragmatic prognostic model to stratify pati...
S-EPMC6254006 | biostudies-literature
UnknownOptimal achieved blood pressure in acute intracerebral hemorrhage: INTERACT2.

Objectives

To investigate the effects of intensive blood pressure (BP) lowering according to baseline BP levels and optimal achieved BP levels in patients with acute intracerebral hemorrhage (ICH).

Methods

INTERACT2 was an open, blinded endpoint, randomized controlled trial in 2,839 p...
S-EPMC4336065 | biostudies-literature
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