Autosomal dominant familial hypercholesterolemia (FH) is caused by genetic mutations in the LDL receptor (LDLR), its ligand apolipoprotein (apo) B, or proprotein convertase subtilisin/kexin type 9 (PCSK9). Although PCSK9 levels have been shown to correlate with LDL-cholesterol (LDL-C) levels in...
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site Familial hypercholesterolemia (FH) is caused by a defective low-density lipoprotein receptor (LDLR), and >1000 mutations in LDLR have been identified. How...
The seedling mortality and segregation distortion caused by pale green lethal (PGL) make it important in apple breeding. Our findings demonstrate that a mutation in MdPHYLLO, the apple ortholog of PHYLLO, is the genetic basis of PGL. The mutation alters a highly conserved amino acid which preven...
10b) possibly caused by a combination of cell injury (~21%) and cell death (~10%). Bacterial cells undergoing lysis were also observed with SEM images, suggesting that the cell membrane integrity was altered. The possible trigger of this change could be related to cytoplasmic blebs, observed...
Our study focuses on the following four genetic mutations: Dup7 7q11.23 Duplication Syndrome, briefly known as Dup7, is caused by a duplication of 1.5–1.8 Mb in section q11.23 of chromosome 7 [7], also known as the Williams-Beuren syndrome critical region (WBSCR) and is inherited in...
With the knowledge of pathogenesis and phenotype of Nasu-Hakola disease, a genetic disease caused by mutations in Trem2 or DAP12, the functional correlation was established between Trem2 and osteoclastogenesis, which proved Trem2 to be a vital co-receptor for osteoclast differentiation [9]. ...
No difference was observed between the pro-Caspase-1 expression level in parental HCT116 cells and AIM2- transfected subclones D1 and B8, indicating that this induction is not caused by AIM2, but rather results from other IFN-g-mediated mechanisms. Moreover, no activation of caspase-1, as...
The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene. Cell 98, 365–376 (1999). 7. Chemelli, R. M. et al. Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation. Cell 98, 437–451 (1999). 8. Willie, J. T. ...
vulgatum. Namely, the higher the gene expression, the larger the adaptation extent of a gene to its tRNA pool, and the stronger preference for codon usage bias. This may be caused by the optimization of codon usage driven by translation, because the codons of highly expressed genes impose ...
In tandem, an accessory spleen infarct is exceptionally uncommon, predominantly caused by the rotation of its vascular base. This case study presents a 19-year-old male who experienced an infarction affecting one out of four accessory spleens. The accessory spleen's condition regarding torsion was...