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Functionally characterized variants in hepatocyte nuclear factor-1a genes

Functionally ID’d Variants in HNF1A Linked to Diabetes Risk

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Functionally characterized variants that reduce HNF-1A transcriptional activity strongly linked to diabetes
Variants in genes encoding proprotein convertase subtilisin-kexin type 9 and 3-hydroxy-3-methylglutarylcoenzyme A reductase are associated with almost equivalent effects on the risk of cardiovascular events and diabetes per unit decrease in low-density lipoprotein cholesterol level

Similar Effects for PCSK9, HMGCR Variant-Mediated Lower LDL

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Almost equivalent effects on cardiovascular events, diabetes per unit decrease in LDL-cholesterol level
A gene mutation has been identified that could be associated with early-onset Parkinson's disease

Gene Mutation Linked to Early-Onset Parkinson’s Disease

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Mutated GCH1 gene tied to 23 percent increased risk of Parkinson's; symptoms five years earlier
Methylation of a gene panel is a strong predictor of survival outcomes in metastatic breast cancer

Methylation of Gene Panel May Help Predict Breast CA Survival

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High cumulative methylation index linked to shorter median progression-free, overall survival
Circulating exosomes released under intermittent hypoxia conditions

Intermittent Hypoxia Promotes Lung Tumor Cell Aggressiveness

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IH-induced exosomes from mice significantly promote TC1 malignant properties
An updated index incorporating gene and molecular alterations can predict survival in non-small-cell lung cancer with brain metastases

Updated Index Predicts Survival in NSCLC With Brain Metastases

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Significant prognostic factors include four factors from earlier index, plus EGFR and ALK alterations
In guidelines published online Nov. 14 in the Journal of Clinical Oncology

Guidelines Developed for HER2 Testing in Gastroesophageal CA

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Tumor specimens should be assessed for HER2 status before initiation of HER2-targeted therapy
Genetic variations correlate with mortality in the elderly

Genetic Mortality Risk Can Be Attenuated by Lifestyle

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Mortality up to 64 percent lower for those with low-risk lifestyle profile, independent of genetic risk
BACH2 is a major risk locus for Addison's disease

BACH2 Identified As Risk Locus for Addison’s Disease

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Extended exome capture array shows BACH2 correlates with Addison's disease development
Tobacco smoking causes mutations that lead to cancer by multiple distinct mechanisms

Smoking Ups Cancer Risk by Causing Distinct Cell Mutations

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For every year of smoking a pack daily, 150 more mutations found in each lung cell