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Variants that have previously been considered causal in hypertrophic cardiomyopathy are often misclassified as pathogenic in patients with African or unspecified ancestry

Misclassification of Variants As Pathogenic in Black Americans

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Misclassification of benign variants as pathogenic in multiple patients with African, unspecified ancestry
Monogenic forms of diabetes can occur in preterm infants

Monogenic Forms of Diabetes Can Occur in Preterm Infants

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Sixty-six percent of preterm infants diagnosed with diabetes before age 6 months had genetic etiology
The activity of two genes may help predict certain breast cancer patients' odds of survival and guide their treatment

F12, STC2 Genes May Help Predict Breast Cancer Survival

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Tracking DNA activity patterns may someday help women with HER2+ breast cancers
Compared with current recommendations from professional societies

Expanded Carrier Screening May Up Detection of Genetic Disorders

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Expanded screening modeled more hypothetical fetuses at risk for severe or profound conditions
The interaction between the organic cation transporter 1 and the serotonin reuptake transporter seems to play a role in metformin intolerance

OCT1, SERT Genes Play Role in Metformin Intolerance

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Intolerance up with low-expressing SERT S* alleles; multiplicative interaction for OCT1, SERT genotypes
For patients with estrogen receptor-positive metastatic breast cancer

ESR1 Mutations Tied to Worse Survival in Metastatic Breast CA

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ESR1 mutations prevalent in ER-positive metastatic breast cancer and linked to shorter survival
Targeted therapies that do not contain erlotinib can be beneficial for patients with KRAS-mutated advanced non-small-cell lung cancer

Targeted Therapies Beneficial in KRAS-Mutated NSCLC

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Improved progression-free survival for patients treated with therapy not containing erlotinib
Two novel loci have been identified that are associated with insulin sensitivity

Study IDs Two Novel Loci Linked to Insulin Sensitivity

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Associations for BCL2 and FAM19A2 were independent of known cardiometabolic loci
Fifteen regions of human DNA associated with depression have been identified

15 Genomic Regions Associated With Depression Identified

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Many located near genes involved in brain development
Potential new asthma genes have been identified in a genome-wide association study combined with subsequent lung expression quantitative trait loci analysis

Potential New Asthma Genes ID’d in Genome-Wide Study

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Combining GWAS with subsequent lung eQTL analysis revealed disease-associated SNPs