FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4383998512> ?p ?o ?g. }

• W4383998512 endingPage "1539" @default.
• W4383998512 startingPage "1532" @default.
• W4383998512 abstract "Von Hippel-Lindau protein (VHL) is essential to hypoxic regulation of cellular processes. VHL promotes proteolytic clearance of hypoxia-inducible transcription factors (HIFs) that have been modified by oxygen-dependent HIF-prolyl hydroxylases. A homozygous loss-of-function VHLR200W mutation causes Chuvash erythrocytosis, a congenital disorder caused by augmented hypoxia-sensing. Homozygous VHLR200W results in accumulation of HIFs that increase transcription of the erythropoietin gene and raise hematocrit. Phlebotomies reduce hematocrit and hyperviscosity symptoms. However, the major cause of morbidity and mortality in Chuvash erythrocytosis is thrombosis. Phlebotomies cause iron deficiency, which may further elevate HIF activity and transferrin, the HIF-regulated plasma iron transporter recently implicated in thrombogenesis. We hypothesized that transferrin is elevated in Chuvash erythrocytosis, and that iron deficiency contributes to its elevation and to thrombosis. We studied 155 patients and 154 matched controls at steady state and followed them for development of thrombosis. Baseline transferrin was elevated, and ferritin reduced in patients. VHLR200W homozygosity and lower ferritin correlated with higher erythropoietin and transferrin. During 11 years of follow-up, risk of thrombosis increased 8.9-fold in patients versus controls. Erythropoietin elevation, but not hematocrit or ferritin, correlated with thrombosis risk. Unexpectedly, transferrin elevation associated with reduced rather than increased thrombosis risk. The A allele of the promoter EPO single nucleotide polymorphisms (SNP), rs1617640, associated with elevated erythropoietin and increased thrombosis risk, whereas the A allele of the intronic TF SNP, rs3811647, associated with higher transferrin and protection from thrombosis in patients. Our findings suggest an unexpected causal relationship between increased transferrin and protection from thrombosis in Chuvash erythrocytosis." @default.
• W4383998512 created "2023-07-13" @default.
• W4383998512 creator A5005593063 @default.
• W4383998512 creator A5012936630 @default.
• W4383998512 creator A5035815172 @default.
• W4383998512 creator A5042381475 @default.
• W4383998512 creator A5049590684 @default.
• W4383998512 creator A5082674063 @default.
• W4383998512 creator A5083426488 @default.
• W4383998512 date "2023-07-12" @default.
• W4383998512 modified "2023-10-17" @default.
• W4383998512 title "Increased transferrin protects from thrombosis in Chuvash erythrocytosis" @default.
• W4383998512 cites W1966776357 @default.
• W4383998512 cites W1975518886 @default.
• W4383998512 cites W1979742080 @default.
• W4383998512 cites W1979891446 @default.
• W4383998512 cites W1985003764 @default.
• W4383998512 cites W1991047577 @default.
• W4383998512 cites W1992436001 @default.
• W4383998512 cites W1997031088 @default.
• W4383998512 cites W1998585658 @default.
• W4383998512 cites W2008376250 @default.
• W4383998512 cites W2018576224 @default.
• W4383998512 cites W2022478798 @default.
• W4383998512 cites W2031778182 @default.
• W4383998512 cites W2033151532 @default.
• W4383998512 cites W2033803279 @default.
• W4383998512 cites W2044111666 @default.
• W4383998512 cites W2047816152 @default.
• W4383998512 cites W2061539393 @default.
• W4383998512 cites W2115521447 @default.
• W4383998512 cites W2123274291 @default.
• W4383998512 cites W2128736149 @default.
• W4383998512 cites W2135034560 @default.
• W4383998512 cites W2135827580 @default.
• W4383998512 cites W2141508574 @default.
• W4383998512 cites W2144625075 @default.
• W4383998512 cites W2161633633 @default.
• W4383998512 cites W2170559724 @default.
• W4383998512 cites W2292376644 @default.
• W4383998512 cites W2415012382 @default.
• W4383998512 cites W2575526823 @default.
• W4383998512 cites W2580449060 @default.
• W4383998512 cites W2588645651 @default.
• W4383998512 cites W2957404411 @default.
• W4383998512 cites W2961226884 @default.
• W4383998512 cites W2990164009 @default.
• W4383998512 cites W2992538743 @default.
• W4383998512 cites W3012687330 @default.
• W4383998512 cites W3029930991 @default.
• W4383998512 cites W3038704705 @default.
• W4383998512 cites W3046315871 @default.
• W4383998512 cites W3096746234 @default.
• W4383998512 cites W3211877645 @default.
• W4383998512 cites W3213943494 @default.
• W4383998512 cites W4211131364 @default.
• W4383998512 cites W4242075931 @default.
• W4383998512 cites W4289130633 @default.
• W4383998512 cites W4293572277 @default.
• W4383998512 cites W4293784402 @default.
• W4383998512 cites W4294012503 @default.
• W4383998512 cites W4308410311 @default.
• W4383998512 cites W4319661414 @default.
• W4383998512 cites W4360998900 @default.
• W4383998512 cites W4367174375 @default.
• W4383998512 doi "https://doi.org/10.1002/ajh.27021" @default.
• W4383998512 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37435906" @default.
• W4383998512 hasPublicationYear "2023" @default.
• W4383998512 type Work @default.
• W4383998512 citedByCount "0" @default.
• W4383998512 crossrefType "journal-article" @default.
• W4383998512 hasAuthorship W4383998512A5005593063 @default.
• W4383998512 hasAuthorship W4383998512A5012936630 @default.
• W4383998512 hasAuthorship W4383998512A5035815172 @default.
• W4383998512 hasAuthorship W4383998512A5042381475 @default.
• W4383998512 hasAuthorship W4383998512A5049590684 @default.
• W4383998512 hasAuthorship W4383998512A5082674063 @default.
• W4383998512 hasAuthorship W4383998512A5083426488 @default.
• W4383998512 hasBestOaLocation W43839985121 @default.
• W4383998512 hasConcept C126322002 @default.
• W4383998512 hasConcept C134018914 @default.
• W4383998512 hasConcept C22814914 @default.
• W4383998512 hasConcept C2778319317 @default.
• W4383998512 hasConcept C2778534260 @default.
• W4383998512 hasConcept C2780868729 @default.
• W4383998512 hasConcept C2780959883 @default.
• W4383998512 hasConcept C71924100 @default.
• W4383998512 hasConceptScore W4383998512C126322002 @default.
• W4383998512 hasConceptScore W4383998512C134018914 @default.
• W4383998512 hasConceptScore W4383998512C22814914 @default.
• W4383998512 hasConceptScore W4383998512C2778319317 @default.
• W4383998512 hasConceptScore W4383998512C2778534260 @default.
• W4383998512 hasConceptScore W4383998512C2780868729 @default.
• W4383998512 hasConceptScore W4383998512C2780959883 @default.
• W4383998512 hasConceptScore W4383998512C71924100 @default.
• W4383998512 hasFunder F4320307105 @default.
• W4383998512 hasFunder F4320317544 @default.
• W4383998512 hasFunder F4320332161 @default.

• next