FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4382562105> ?p ?o ?g. }

• W4382562105 abstract "Background Inherited Protein C deficiency (PCD) caused by mutations in Protein C gene (PROC) increases the risk of thrombosis. Missense mutations in PC’s signal peptide and propeptide have been reported in PCD patients, but their pathogenic mechanisms, except mutations in R42 residue, remain unclear. Objectives To investigate the pathogenic mechanisms of inherited PCD caused by 11 naturally occurring missense mutations in PC’s signal peptide and propeptide. Methods Through cell-based assays, we evaluated the impact of these mutations on various aspects such as the activities and antigens of secreted PC, intracellular PC expression, subcellular localization of a reporter protein, and propeptide cleavage. Additionally, we investigated their effect on pre-mRNA splicing using a minigene splicing assay. Results Our data revealed that certain missense mutations (L9P, R32C, R40C, R38W, and R42C) disrupt PC secretion by impeding co-translational translocation to the ER or by causing ER retention. Additionally, some mutations (R38W, R42L/H/S) result in abnormal propeptide cleavage. However, a few missense mutations (Q3P, W14G, and V26M) do not account for PCD. Through a minigene splicing assay, we observed that several variations (c.8A>C, c.76G>A, c.94C>T, and c.112C>T) increase the incidence of aberrant pre-mRNA splicing. Conclusion Our findings suggest that the variations in PC’s signal peptide and propeptide have varying effects on the biological process of PC, including posttranscriptional pre-mRNA splicing, translation, and posttranslational processing. Additionally, one variation could affect the biological process of PC at multiple levels. Except W14G, our results provide a clear understanding of the relationship between PROC genotype and inherited PCD." @default.
• W4382562105 created "2023-06-30" @default.
• W4382562105 creator A5001077267 @default.
• W4382562105 creator A5002528822 @default.
• W4382562105 creator A5008181744 @default.
• W4382562105 creator A5014027599 @default.
• W4382562105 creator A5028550692 @default.
• W4382562105 creator A5047032699 @default.
• W4382562105 creator A5050214669 @default.
• W4382562105 creator A5052231210 @default.
• W4382562105 creator A5054058574 @default.
• W4382562105 creator A5064402305 @default.
• W4382562105 creator A5070295178 @default.
• W4382562105 creator A5075471645 @default.
• W4382562105 creator A5080997822 @default.
• W4382562105 creator A5087713399 @default.
• W4382562105 date "2023-06-01" @default.
• W4382562105 modified "2023-10-16" @default.
• W4382562105 title "Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions" @default.
• W4382562105 cites W1892962815 @default.
• W4382562105 cites W1923712819 @default.
• W4382562105 cites W1967598183 @default.
• W4382562105 cites W1970650210 @default.
• W4382562105 cites W1974969032 @default.
• W4382562105 cites W2012051978 @default.
• W4382562105 cites W2026597197 @default.
• W4382562105 cites W2044965942 @default.
• W4382562105 cites W2096236346 @default.
• W4382562105 cites W2114152867 @default.
• W4382562105 cites W2127941969 @default.
• W4382562105 cites W2133389386 @default.
• W4382562105 cites W2138612542 @default.
• W4382562105 cites W2145359199 @default.
• W4382562105 cites W2287924893 @default.
• W4382562105 cites W2560428869 @default.
• W4382562105 cites W2601318190 @default.
• W4382562105 cites W2898399173 @default.
• W4382562105 cites W2913121198 @default.
• W4382562105 cites W2946222253 @default.
• W4382562105 cites W2980650198 @default.
• W4382562105 cites W3016458310 @default.
• W4382562105 cites W3046057148 @default.
• W4382562105 cites W3047660056 @default.
• W4382562105 cites W3076829158 @default.
• W4382562105 cites W4223902206 @default.
• W4382562105 cites W4224223974 @default.
• W4382562105 cites W46531715 @default.
• W4382562105 doi "https://doi.org/10.1016/j.jtha.2023.06.021" @default.
• W4382562105 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37393002" @default.
• W4382562105 hasPublicationYear "2023" @default.
• W4382562105 type Work @default.
• W4382562105 citedByCount "0" @default.
• W4382562105 crossrefType "journal-article" @default.
• W4382562105 hasAuthorship W4382562105A5001077267 @default.
• W4382562105 hasAuthorship W4382562105A5002528822 @default.
• W4382562105 hasAuthorship W4382562105A5008181744 @default.
• W4382562105 hasAuthorship W4382562105A5014027599 @default.
• W4382562105 hasAuthorship W4382562105A5028550692 @default.
• W4382562105 hasAuthorship W4382562105A5047032699 @default.
• W4382562105 hasAuthorship W4382562105A5050214669 @default.
• W4382562105 hasAuthorship W4382562105A5052231210 @default.
• W4382562105 hasAuthorship W4382562105A5054058574 @default.
• W4382562105 hasAuthorship W4382562105A5064402305 @default.
• W4382562105 hasAuthorship W4382562105A5070295178 @default.
• W4382562105 hasAuthorship W4382562105A5075471645 @default.
• W4382562105 hasAuthorship W4382562105A5080997822 @default.
• W4382562105 hasAuthorship W4382562105A5087713399 @default.
• W4382562105 hasConcept C104317684 @default.
• W4382562105 hasConcept C105580179 @default.
• W4382562105 hasConcept C10858879 @default.
• W4382562105 hasConcept C153911025 @default.
• W4382562105 hasConcept C166342232 @default.
• W4382562105 hasConcept C167625842 @default.
• W4382562105 hasConcept C501734568 @default.
• W4382562105 hasConcept C54355233 @default.
• W4382562105 hasConcept C54458228 @default.
• W4382562105 hasConcept C67705224 @default.
• W4382562105 hasConcept C69551769 @default.
• W4382562105 hasConcept C75563809 @default.
• W4382562105 hasConcept C7860815 @default.
• W4382562105 hasConcept C86803240 @default.
• W4382562105 hasConcept C95444343 @default.
• W4382562105 hasConceptScore W4382562105C104317684 @default.
• W4382562105 hasConceptScore W4382562105C105580179 @default.
• W4382562105 hasConceptScore W4382562105C10858879 @default.
• W4382562105 hasConceptScore W4382562105C153911025 @default.
• W4382562105 hasConceptScore W4382562105C166342232 @default.
• W4382562105 hasConceptScore W4382562105C167625842 @default.
• W4382562105 hasConceptScore W4382562105C501734568 @default.
• W4382562105 hasConceptScore W4382562105C54355233 @default.
• W4382562105 hasConceptScore W4382562105C54458228 @default.
• W4382562105 hasConceptScore W4382562105C67705224 @default.
• W4382562105 hasConceptScore W4382562105C69551769 @default.
• W4382562105 hasConceptScore W4382562105C75563809 @default.
• W4382562105 hasConceptScore W4382562105C7860815 @default.
• W4382562105 hasConceptScore W4382562105C86803240 @default.
• W4382562105 hasConceptScore W4382562105C95444343 @default.
• W4382562105 hasFunder F4320320719 @default.
• W4382562105 hasFunder F4320321001 @default.
• W4382562105 hasFunder F4320321543 @default.

• next