Tag: Genetics
Phenotype Varies for Presumed Pathogenic Variants in KCNB1
De novo mutations in KCNB1 associated with variable neurodevelopmental disorder
Single-Color PCR Detects Cancer Mutations From Circulating DNA
Mutation assays were developed specific to the cancer driver mutations of patients' tumors
HTRA1 Mutations Tied to Cerebral Small Vessel Disease
Correlation seen between mutations and MRI brain findings
Multigene Panel Tests Can ID Hereditary Kidney Cancer
Most commonly altered genes were folliculin and fumarate hydratase, altered in 1.8 and 1.3 percent
Disruption of NAD Synthesis Tied to Congenital Malformations
Patients with congenital mutations have lower levels of circulating nicotinamide adenine dinucleotide
Characteristics of Diabetes in Infancy Explored
Overall frequency of diabetic ketoacidosis 66.2 percent; odds increase with age at diagnosis
Sleep-Disordered Breathing Linked to Cognitive Dysfunction
Hypoxemia and sleepiness associated with cognitive deficits, with strongest effect in APOE-ε4 carriers
Genetic Variation Impacts Pharmacokinetics of Exemestane
Significant differences in plasma exemestane area under the curve for OATP1B1 genotype groups
Research Supports Genetic Testing in Early Life Epilepsy
Faster diagnosis leads to faster treatment, researcher says
Gene Expression May Predict Response to Methotrexate in RA
Correlations for p21, caspase 3, and RUNX2 with the change in disease activity score of 28 joints
