Tag: Genetics
Novel Genetic Variant in IGF2 Linked to Reduced T2DM Risk
Variant is associated with allele-dosage dependent reduction in IGF2 isoform 2 expression
Telomere Length Prognostic in Hepatocellular Carcinoma
Shortened telomeres in tumor cells, CA-associated fibroblasts tied to reduced survival, upped recurrence
PERSEVERE-XP Improves Mortality Risk Stratification in Sepsis
Addition of network of 18 mortality risk assessment genes related to TP53 improves PERSEVERE
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
