doi:10.1161/circ.146.suppl_1.10882CholesterolCholesterol-lowering drugsMonoclonal antibodiesPCSK9HyperlipidemiaIntroduction:Homozygous familial hypercholesterolemia (HoFH) is an inherited autosomal co-dominant disorder characterized by severely elevated circulating low-density lipoprotein (LDL). Monoclonal antibodies ...
Results: The homozygous dominant genotype of rs17584499 is frequent in diabetic patients (56.5%) compared to normal subjects (47.3%). In contrast, the homozygous recessive genotype of rs8081273 is more frequent among normal subjects (12.5%) than diabetic patients (5.6%). The dominant genetic ...
homozygous familial hypercholesterolemialipid-lowering therapiesHomozygous familial hypercholesterolemia (HoFH) is a rare, primarily an autosomal dominant genetic disorder that causes markedly elevated low-density lipoprotein (LDL) cholesterol levels predisposing patients to risk of developing premature ...
TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of theTTNgene鈥攖he Finnish founder variant (FINmaj). In homozygous state or compound heterozygosity with a truncating variant, ...
Results: The mutated T-allele of the AGT gene (rs4762) occurs in 15.97% of hypertensive residents of Northern Bukovyna, that is more frequent than in healthy individuals by 9.72% (p = 0.023); homozygous mutations of the AGT gene were not found in the control group at all. Whereas, the...
When homozygous lines were established from these two size classes, accumulation of immunologically detectable oat phytochrome cosegregated with the short-hypocotyl trait. The short-hypocotyl seedlings contained substantially more spectrally active phytochrome than their normal-sized siblings, indicating that ...
Introduction:Homozygous familial hypercholesterolemia (HoFH) is an autosomal co-dominant disorder characterized by extreme elevations in LDL-C and early onset ASCVD. Unfortunately, patients with HoFH generally experience poor LDL-C lowering with standard lipid-lowering therapy and rarely achieve LDL-C ...
Introduction KCNK18, a potassium channel subfamily K member 18 (MIM*613655), encodes for TWIK-related spinal cord K+ channel (TRESK) and is important for maintaining neuronal excitability. Monoallelic variants in KCNK18 are known to cause autosomal dominant migraine, with or without aura, ...
Furthermore, the proportion of healthcare workers with COVID19mutated homozygous and mutated homozygous genotypeAC + CC was higher (P = 0.00, OR: 4.50, 95% CI: 2.32–8.73). This result could show that this gene is mutated and that the candidate is more likely to get COVID-19. In ...
Mutants homozygous recessive for one of the genes An1, An2, An6, or An9 and homozygous recessive for F1 accumulate dihydroflavonols in comparable amounts. The synthesis of dihydromyricetin is blocked in an1an1 mutants, which indicates a regulating effect of the gene An1 on the gene...