FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4233289318> ?p ?o ?g. }

• W4233289318 abstract "Abstract Background: Protein S deficiency (PSD) is an autosomal dominant hereditary disease. In 1984, familial PSD was reported to be prone to recurrent thrombosis. Follow-up studies have shown that heterozygous protein S ( PROS1 ) mutations increase the risk of thrombosis. More than 300 PROS1 mutations have been identified; among them, only a small number of mutations have been reported its possible mechanism to reduce plasma protein S (PS) levels. However, whether PROS1 mutations affect protein structure and why it can induce PSD remains unknown. Methods: The clinical phenotypes of the members of a family with thrombosis were collected. Their PS activity was measured using the coagulation method, whereas their protein C and antithrombin III activities were measured using methods such as the chromogenic substrate method. The proband and her parents were screened for the responsible mutation using second-generation whole exon sequencing, and the members of the family were verified for suspected mutations using Sanger sequencing. Mutant and wild type plasmids were constructed and transfected into HEK293T cells to detect the mRNA and protein expression of PROS1 . Results: In this family, the proband with venous thrombosis of both lower extremities, the proband’s mother with pulmonary thrombosis and venous thrombosis of both lower extremities, and the proband’s younger brother had significantly lower PS activity and carried a PROS1 c. 1820T > C:p.Leu607Ser heterozygous mutation (NM_000313.3). However, no such mutations were found in family members with normal PS activity. The PS expression in the cell lysate and supernatant of the Leu607Ser mutant cells decreased, while mRNA expression increased. Immunofluorescence localization showed that there was no significant difference in protein localization before and after mutation. Conclusions: The analysis of family phenotype, gene association, and cell function tests suggest that the PROS Leu607Ser heterozygous mutation may be a pathogenic mutation. Serine substitution causes structural instability of the entire protein. These data indicate that impaired PS translation and synthesis or possible secretion impairment is the main pathogenesis of this family with hereditary PSD and thrombophilia." @default.
• W4233289318 created "2022-05-12" @default.
• W4233289318 creator A5014064568 @default.
• W4233289318 creator A5024016218 @default.
• W4233289318 creator A5032857578 @default.
• W4233289318 creator A5034634193 @default.
• W4233289318 creator A5041733340 @default.
• W4233289318 creator A5058039531 @default.
• W4233289318 creator A5069044476 @default.
• W4233289318 creator A5070373092 @default.
• W4233289318 creator A5076083920 @default.
• W4233289318 creator A5077716269 @default.
• W4233289318 creator A5083464792 @default.
• W4233289318 creator A5087798833 @default.
• W4233289318 creator A5089343791 @default.
• W4233289318 date "2021-07-08" @default.
• W4233289318 modified "2023-10-17" @default.
• W4233289318 title "A Thrombophilia Family With Protein S Deficiency Due to Protein Translation Disorders Caused By a Leu607Ser Heterozygous Mutation in PROS1" @default.
• W4233289318 doi "https://doi.org/10.21203/rs.3.rs-680368/v1" @default.
• W4233289318 hasPublicationYear "2021" @default.
• W4233289318 type Work @default.
• W4233289318 citedByCount "0" @default.
• W4233289318 crossrefType "posted-content" @default.
• W4233289318 hasAuthorship W4233289318A5014064568 @default.
• W4233289318 hasAuthorship W4233289318A5024016218 @default.
• W4233289318 hasAuthorship W4233289318A5032857578 @default.
• W4233289318 hasAuthorship W4233289318A5034634193 @default.
• W4233289318 hasAuthorship W4233289318A5041733340 @default.
• W4233289318 hasAuthorship W4233289318A5058039531 @default.
• W4233289318 hasAuthorship W4233289318A5069044476 @default.
• W4233289318 hasAuthorship W4233289318A5070373092 @default.
• W4233289318 hasAuthorship W4233289318A5076083920 @default.
• W4233289318 hasAuthorship W4233289318A5077716269 @default.
• W4233289318 hasAuthorship W4233289318A5083464792 @default.
• W4233289318 hasAuthorship W4233289318A5087798833 @default.
• W4233289318 hasAuthorship W4233289318A5089343791 @default.
• W4233289318 hasBestOaLocation W42332893181 @default.
• W4233289318 hasConcept C104317684 @default.
• W4233289318 hasConcept C126322002 @default.
• W4233289318 hasConcept C153911025 @default.
• W4233289318 hasConcept C188997412 @default.
• W4233289318 hasConcept C2776135265 @default.
• W4233289318 hasConcept C2776308622 @default.
• W4233289318 hasConcept C2777557582 @default.
• W4233289318 hasConcept C2779026020 @default.
• W4233289318 hasConcept C2780842393 @default.
• W4233289318 hasConcept C2780868729 @default.
• W4233289318 hasConcept C2781287897 @default.
• W4233289318 hasConcept C501734568 @default.
• W4233289318 hasConcept C54355233 @default.
• W4233289318 hasConcept C71924100 @default.
• W4233289318 hasConcept C86803240 @default.
• W4233289318 hasConceptScore W4233289318C104317684 @default.
• W4233289318 hasConceptScore W4233289318C126322002 @default.
• W4233289318 hasConceptScore W4233289318C153911025 @default.
• W4233289318 hasConceptScore W4233289318C188997412 @default.
• W4233289318 hasConceptScore W4233289318C2776135265 @default.
• W4233289318 hasConceptScore W4233289318C2776308622 @default.
• W4233289318 hasConceptScore W4233289318C2777557582 @default.
• W4233289318 hasConceptScore W4233289318C2779026020 @default.
• W4233289318 hasConceptScore W4233289318C2780842393 @default.
• W4233289318 hasConceptScore W4233289318C2780868729 @default.
• W4233289318 hasConceptScore W4233289318C2781287897 @default.
• W4233289318 hasConceptScore W4233289318C501734568 @default.
• W4233289318 hasConceptScore W4233289318C54355233 @default.
• W4233289318 hasConceptScore W4233289318C71924100 @default.
• W4233289318 hasConceptScore W4233289318C86803240 @default.
• W4233289318 hasLocation W42332893181 @default.
• W4233289318 hasLocation W42332893182 @default.
• W4233289318 hasOpenAccess W4233289318 @default.
• W4233289318 hasPrimaryLocation W42332893181 @default.
• W4233289318 hasRelatedWork W1497238487 @default.
• W4233289318 hasRelatedWork W1980565671 @default.
• W4233289318 hasRelatedWork W2025022223 @default.
• W4233289318 hasRelatedWork W2062692900 @default.
• W4233289318 hasRelatedWork W2272401759 @default.
• W4233289318 hasRelatedWork W2321798005 @default.
• W4233289318 hasRelatedWork W2397565112 @default.
• W4233289318 hasRelatedWork W2399046469 @default.
• W4233289318 hasRelatedWork W3175398862 @default.
• W4233289318 hasRelatedWork W4251530938 @default.
• W4233289318 isParatext "false" @default.
• W4233289318 isRetracted "false" @default.
• W4233289318 workType "article" @default.