FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2919871908> ?p ?o ?g. }

• W2919871908 abstract "Introduction von Willebrand disease (VWD) is the most common inherited bleeding disorder. Few studies have explored the molecular basis of type 2 VWD. Aim This study aimed to identify variants associated with type 2 VWD. Methods We collected clinical and laboratory data, as well as response to desmopressin and bleeding assessment tool (BAT) score in patients diagnosed with type 2 VWD. We sequenced exons 17, 18, 20 and 28 of the VWF gene. Results We identified 19 different variants in 40 unrelated patients (47.5%). Most of the variants (84.2%) were found in exon 28. A total of 10/19 variants (52.6%) were identified as “likely causative” in 17/40 patients (42.5%), according to the ISTH‐SSC and EAHAD VWF gene mutations databases. Nine variants were initially identified as potentially benign. However, through analyses in silico, four of these variants were reclassified as “likely pathogenic” (Ile1380Val, Asn1435Ser, Ser1486Leu and Tyr1584Cys). Response to desmopressin was associated with three variants: Met740Ile, Arg1597Gln and Tyr1584Cys. Major bleeding was associated with variants related to VWD subtypes 2B and 2M. Conclusion In conclusion, we identified 19 variants, of which 14 are “likely pathogenic” and therefore associated with VWD. We suggest a possible association of pathogenic variants with major bleeding, response to desmopressin and BAT score ≥10, although this requires further confirmation." @default.
• W2919871908 created "2019-03-11" @default.
• W2919871908 creator A5007553072 @default.
• W2919871908 creator A5022039245 @default.
• W2919871908 creator A5030500162 @default.
• W2919871908 creator A5031036531 @default.
• W2919871908 creator A5031834010 @default.
• W2919871908 creator A5033218362 @default.
• W2919871908 creator A5050617206 @default.
• W2919871908 creator A5075323510 @default.
• W2919871908 creator A5085270304 @default.
• W2919871908 creator A5087012776 @default.
• W2919871908 date "2019-02-28" @default.
• W2919871908 modified "2023-09-27" @default.
• W2919871908 title "Genetic variants of <i>VWF</i> gene in type 2 von Willebrand disease" @default.
• W2919871908 cites W1505239733 @default.
• W2919871908 cites W1595347157 @default.
• W2919871908 cites W1602381906 @default.
• W2919871908 cites W1645621228 @default.
• W2919871908 cites W1968420972 @default.
• W2919871908 cites W1974086845 @default.
• W2919871908 cites W1977773138 @default.
• W2919871908 cites W1978994268 @default.
• W2919871908 cites W1994803521 @default.
• W2919871908 cites W2010641988 @default.
• W2919871908 cites W2022152667 @default.
• W2919871908 cites W2024405748 @default.
• W2919871908 cites W2038925480 @default.
• W2919871908 cites W2051978340 @default.
• W2919871908 cites W2053163577 @default.
• W2919871908 cites W2059145105 @default.
• W2919871908 cites W2063071114 @default.
• W2919871908 cites W2064668665 @default.
• W2919871908 cites W2065359526 @default.
• W2919871908 cites W2071962674 @default.
• W2919871908 cites W2079971383 @default.
• W2919871908 cites W2090975652 @default.
• W2919871908 cites W2112192177 @default.
• W2919871908 cites W2114292750 @default.
• W2919871908 cites W2117784725 @default.
• W2919871908 cites W2126400679 @default.
• W2919871908 cites W2129682060 @default.
• W2919871908 cites W2132123037 @default.
• W2919871908 cites W2134878838 @default.
• W2919871908 cites W2142376662 @default.
• W2919871908 cites W2146662714 @default.
• W2919871908 cites W2151187602 @default.
• W2919871908 cites W2159157680 @default.
• W2919871908 cites W2164004777 @default.
• W2919871908 cites W2171680799 @default.
• W2919871908 cites W2224056471 @default.
• W2919871908 cites W2417483443 @default.
• W2919871908 cites W2535426958 @default.
• W2919871908 cites W2778828327 @default.
• W2919871908 cites W4210702584 @default.
• W2919871908 doi "https://doi.org/10.1111/hae.13714" @default.
• W2919871908 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30817071" @default.
• W2919871908 hasPublicationYear "2019" @default.
• W2919871908 type Work @default.
• W2919871908 sameAs 2919871908 @default.
• W2919871908 citedByCount "4" @default.
• W2919871908 countsByYear W29198719082019 @default.
• W2919871908 countsByYear W29198719082021 @default.
• W2919871908 countsByYear W29198719082022 @default.
• W2919871908 crossrefType "journal-article" @default.
• W2919871908 hasAuthorship W2919871908A5007553072 @default.
• W2919871908 hasAuthorship W2919871908A5022039245 @default.
• W2919871908 hasAuthorship W2919871908A5030500162 @default.
• W2919871908 hasAuthorship W2919871908A5031036531 @default.
• W2919871908 hasAuthorship W2919871908A5031834010 @default.
• W2919871908 hasAuthorship W2919871908A5033218362 @default.
• W2919871908 hasAuthorship W2919871908A5050617206 @default.
• W2919871908 hasAuthorship W2919871908A5075323510 @default.
• W2919871908 hasAuthorship W2919871908A5085270304 @default.
• W2919871908 hasAuthorship W2919871908A5087012776 @default.
• W2919871908 hasConcept C104317684 @default.
• W2919871908 hasConcept C126322002 @default.
• W2919871908 hasConcept C135763542 @default.
• W2919871908 hasConcept C2778702241 @default.
• W2919871908 hasConcept C2778780528 @default.
• W2919871908 hasConcept C2779134260 @default.
• W2919871908 hasConcept C2779394231 @default.
• W2919871908 hasConcept C2993967602 @default.
• W2919871908 hasConcept C36823959 @default.
• W2919871908 hasConcept C54355233 @default.
• W2919871908 hasConcept C71924100 @default.
• W2919871908 hasConcept C86803240 @default.
• W2919871908 hasConcept C89560881 @default.
• W2919871908 hasConceptScore W2919871908C104317684 @default.
• W2919871908 hasConceptScore W2919871908C126322002 @default.
• W2919871908 hasConceptScore W2919871908C135763542 @default.
• W2919871908 hasConceptScore W2919871908C2778702241 @default.
• W2919871908 hasConceptScore W2919871908C2778780528 @default.
• W2919871908 hasConceptScore W2919871908C2779134260 @default.
• W2919871908 hasConceptScore W2919871908C2779394231 @default.
• W2919871908 hasConceptScore W2919871908C2993967602 @default.
• W2919871908 hasConceptScore W2919871908C36823959 @default.
• W2919871908 hasConceptScore W2919871908C54355233 @default.
• W2919871908 hasConceptScore W2919871908C71924100 @default.
• W2919871908 hasConceptScore W2919871908C86803240 @default.

• next