Matches in SemOpenAlex for { <https://semopenalex.org/work/W2167469807> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2167469807 endingPage "2650" @default.
- W2167469807 startingPage "2645" @default.
- W2167469807 abstract "Abstract Severe congenital neutropenia (SCN) was originally described as an autosomal recessive disorder. Subsequently, autosomal dominant and sporadic forms of the disease have been recognized. All forms are manifest by persistent severe neutropenia and recurrent bacterial infection. In contrast, cyclical hematopoiesis is characterized by periodic neutropenia inter-spaced with (near) normal neutrophil counts. Recently, linkage analysis on 13 affected pedigrees identified chromosome 19p13.3 as the likely position for mutations in cyclical hematopoiesis. Heterozygous mutations in the ELA2 gene encoding neutrophil elastase were detected in all families studied. Further work also demonstrated mutations in ELA2 in sporadic and autosomal dominant SCN. However, all mutations described to date are heterozygous and thus appear to act in a dominant fashion, which is inconsistent with an autosomal recessive disease. Therefore, the current study investigated whether mutations in ELA2could account for the disease phenotype in classical autosomal recessive SCN and in the sporadic and autosomal dominant types. All 5 exons of ELA2 and their flanking introns were studied in 18 patients (3 autosomal recessive, 5 autosomal dominant [from 3 kindreds], and 10 sporadic) using direct automated sequencing. No mutations were found in the autosomal recessive families. A point mutation was identified in 1 of 3 autosomal dominant families, and a base substitution was identified in 8 of 10 patients with the sporadic form, though 1 was subsequently shown to be a low-frequency polymorphism. These results suggest that mutations in ELA2are not responsible for classical autosomal recessive Kostmann syndrome but provide further evidence for the role of ELA2 in SCN." @default.
- W2167469807 created "2016-06-24" @default.
- W2167469807 creator A5004954447 @default.
- W2167469807 creator A5005708709 @default.
- W2167469807 creator A5057908266 @default.
- W2167469807 creator A5059264212 @default.
- W2167469807 creator A5078260663 @default.
- W2167469807 date "2001-11-01" @default.
- W2167469807 modified "2023-10-16" @default.
- W2167469807 title "Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease" @default.
- W2167469807 cites W1525631450 @default.
- W2167469807 cites W1528290531 @default.
- W2167469807 cites W1531003049 @default.
- W2167469807 cites W1608563261 @default.
- W2167469807 cites W1978083259 @default.
- W2167469807 cites W2045723131 @default.
- W2167469807 cites W2064566037 @default.
- W2167469807 cites W2104823346 @default.
- W2167469807 cites W2151693035 @default.
- W2167469807 cites W2157165682 @default.
- W2167469807 cites W4255227621 @default.
- W2167469807 doi "https://doi.org/10.1182/blood.v98.9.2645" @default.
- W2167469807 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11675333" @default.
- W2167469807 hasPublicationYear "2001" @default.
- W2167469807 type Work @default.
- W2167469807 sameAs 2167469807 @default.
- W2167469807 citedByCount "114" @default.
- W2167469807 countsByYear W21674698072012 @default.
- W2167469807 countsByYear W21674698072013 @default.
- W2167469807 countsByYear W21674698072014 @default.
- W2167469807 countsByYear W21674698072015 @default.
- W2167469807 countsByYear W21674698072016 @default.
- W2167469807 countsByYear W21674698072017 @default.
- W2167469807 countsByYear W21674698072018 @default.
- W2167469807 countsByYear W21674698072019 @default.
- W2167469807 countsByYear W21674698072023 @default.
- W2167469807 crossrefType "journal-article" @default.
- W2167469807 hasAuthorship W2167469807A5004954447 @default.
- W2167469807 hasAuthorship W2167469807A5005708709 @default.
- W2167469807 hasAuthorship W2167469807A5057908266 @default.
- W2167469807 hasAuthorship W2167469807A5059264212 @default.
- W2167469807 hasAuthorship W2167469807A5078260663 @default.
- W2167469807 hasBestOaLocation W21674698071 @default.
- W2167469807 hasConcept C104317684 @default.
- W2167469807 hasConcept C12125453 @default.
- W2167469807 hasConcept C127716648 @default.
- W2167469807 hasConcept C176944494 @default.
- W2167469807 hasConcept C203014093 @default.
- W2167469807 hasConcept C2776317360 @default.
- W2167469807 hasConcept C2776694085 @default.
- W2167469807 hasConcept C2776914184 @default.
- W2167469807 hasConcept C2777063308 @default.
- W2167469807 hasConcept C2778527355 @default.
- W2167469807 hasConcept C2908751872 @default.
- W2167469807 hasConcept C29906990 @default.
- W2167469807 hasConcept C501734568 @default.
- W2167469807 hasConcept C54355233 @default.
- W2167469807 hasConcept C64618202 @default.
- W2167469807 hasConcept C86803240 @default.
- W2167469807 hasConceptScore W2167469807C104317684 @default.
- W2167469807 hasConceptScore W2167469807C12125453 @default.
- W2167469807 hasConceptScore W2167469807C127716648 @default.
- W2167469807 hasConceptScore W2167469807C176944494 @default.
- W2167469807 hasConceptScore W2167469807C203014093 @default.
- W2167469807 hasConceptScore W2167469807C2776317360 @default.
- W2167469807 hasConceptScore W2167469807C2776694085 @default.
- W2167469807 hasConceptScore W2167469807C2776914184 @default.
- W2167469807 hasConceptScore W2167469807C2777063308 @default.
- W2167469807 hasConceptScore W2167469807C2778527355 @default.
- W2167469807 hasConceptScore W2167469807C2908751872 @default.
- W2167469807 hasConceptScore W2167469807C29906990 @default.
- W2167469807 hasConceptScore W2167469807C501734568 @default.
- W2167469807 hasConceptScore W2167469807C54355233 @default.
- W2167469807 hasConceptScore W2167469807C64618202 @default.
- W2167469807 hasConceptScore W2167469807C86803240 @default.
- W2167469807 hasIssue "9" @default.
- W2167469807 hasLocation W21674698071 @default.
- W2167469807 hasOpenAccess W2167469807 @default.
- W2167469807 hasPrimaryLocation W21674698071 @default.
- W2167469807 hasRelatedWork W161758783 @default.
- W2167469807 hasRelatedWork W1981054210 @default.
- W2167469807 hasRelatedWork W2020787979 @default.
- W2167469807 hasRelatedWork W2074318615 @default.
- W2167469807 hasRelatedWork W2143318560 @default.
- W2167469807 hasRelatedWork W2167469807 @default.
- W2167469807 hasRelatedWork W2573688106 @default.
- W2167469807 hasRelatedWork W3159663241 @default.
- W2167469807 hasRelatedWork W4244579049 @default.
- W2167469807 hasRelatedWork W2182186846 @default.
- W2167469807 hasVolume "98" @default.
- W2167469807 isParatext "false" @default.
- W2167469807 isRetracted "false" @default.
- W2167469807 magId "2167469807" @default.
- W2167469807 workType "article" @default.