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Genetic Variation Impacts Pharmacokinetics of Exemestane

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Significant differences in plasma exemestane area under the curve for OATP1B1 genotype groups
Genetic investigation emphasizing sequencing tests should be incorporated into the routine initial evaluation of young children with epilepsy

Research Supports Genetic Testing in Early Life Epilepsy

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Faster diagnosis leads to faster treatment, researcher says
For patients with rheumatoid arthritis

Gene Expression May Predict Response to Methotrexate in RA

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Correlations for p21, caspase 3, and RUNX2 with the change in disease activity score of 28 joints
Polygenic risk can mimic major monogenic mutation in severe hypertriglyceridemia

Case Highlights Polygenic Risk in Severe Hypertriglyceridemia

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Patient with hypertriglyceridemia had polymorphisms producing triglyceride risk score of 19
For Ashkenazi Jewish patients with breast cancer

More Genetic Tests May Benefit Ashkenazi Jewish Cancer Patients

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For Ashkenazi Jewish women with breast cancer, mutations identified in other genes, including CHEK2
The rate of unfavorable features is increased in association with increasing MYCN copy number in patients with neuroblastoma

MYCN Copy Number Tied to Poor Features in Neuroblastoma

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Patients with MYCN gain had inferior outcomes, including lowest response rate after chemo
Germline deleterious mutations are enriched among men with prostate cancer and at least one additional primary cancer

Germline Mutations Up in Men With Prostate CA, One Other CA

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However, most of these men do not meet current clinical criteria for germline testing
Whole-genome sequencing of healthy people reveals that while some are at risk for rare genetic diseases

Whole-Genome Sequencing of Uncertain Clinical Utility

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Testing may prompt additional clinical actions of unclear value, researchers say
Plasma suPAR levels independently predict renal function decline in individuals with apolipoprotein L1 risk variants

suPAR Protein Levels Impact CKD Risk With APOL1 Variants

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Risk reduced with lower levels of plasma suPAR, strengthened by higher levels
For patients with acute myeloid leukemia and a FLT3 mutation

Longer Survival for Midostaurin + Chemotherapy in AML With FLT3

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Prolonged overall, event-free survival for patients with acute myeloid leukemia, FLT3 mutation