FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1525631450> ?p ?o ?g. }

• W1525631450 endingPage "2322" @default.
• W1525631450 startingPage "2317" @default.
• W1525631450 abstract "Abstract Congenital neutropenia and cyclic neutropenia are disorders of neutrophil production predisposing patients to recurrent bacterial infections. Recently the locus for autosomal dominant cyclic neutropenia was mapped to chromosome 19p13.3, and this disease is now attributable to mutations of the gene encoding neutrophil elastase (the ELA2 gene). The authors hypothesized that congenital neutropenia is also due to mutations of neutrophil elastase. Patients with congenital neutropenia, cyclic neutropenia, or Shwachman-Diamond syndrome were referred to the Severe Chronic Neutropenia International Registry. Referring physicians provided hematologic and clinical data. Mutational analysis was performed by sequencing polymerase chain reaction (PCR)-amplified genomic DNA for each of the 5 exons of the neutrophil ELA2 gene and 20 bases of the flanking regions. RNA from bone marrow mononuclear cells was used to determine if the affected patients expressed both the normal and the abnormal transcript. Twenty-two of 25 patients with congenital neutropenia had 18 different heterozygous mutations. Four of 4 patients with cyclic neutropenia and 0 of 3 patients with Shwachman-Diamond syndrome had mutations. For 5 patients with congenital neutropenia having mutations predicted to alter RNA splicing or transcript structure, reverse transcriptase-PCR showed expression of both normal and abnormal transcripts. In cyclic neutropenia, the mutations appeared to cluster near the active site of the molecule, whereas the opposite face was predominantly affected by the mutations found in congenital neutropenia. This study indicates that mutations of the gene encoding neutrophil elastase are probably the most common cause for severe congenital neutropenia as well as the cause for sporadic and autosomal dominant cyclic neutropenia." @default.
• W1525631450 created "2016-06-24" @default.
• W1525631450 creator A5002662637 @default.
• W1525631450 creator A5004881655 @default.
• W1525631450 creator A5008970027 @default.
• W1525631450 creator A5011776125 @default.
• W1525631450 creator A5012976716 @default.
• W1525631450 creator A5013612745 @default.
• W1525631450 creator A5015520404 @default.
• W1525631450 creator A5028046331 @default.
• W1525631450 creator A5028349312 @default.
• W1525631450 creator A5037504084 @default.
• W1525631450 creator A5041235770 @default.
• W1525631450 creator A5082170535 @default.
• W1525631450 date "2000-10-01" @default.
• W1525631450 modified "2023-10-10" @default.
• W1525631450 title "Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia" @default.
• W1525631450 cites W1597610606 @default.
• W1525631450 cites W1608563261 @default.
• W1525631450 cites W169626422 @default.
• W1525631450 cites W1966041739 @default.
• W1525631450 cites W1967955805 @default.
• W1525631450 cites W1978083259 @default.
• W1525631450 cites W1988590714 @default.
• W1525631450 cites W2009664834 @default.
• W1525631450 cites W2013083986 @default.
• W1525631450 cites W2013301732 @default.
• W1525631450 cites W20173471 @default.
• W1525631450 cites W2062704276 @default.
• W1525631450 cites W2085686483 @default.
• W1525631450 cites W2099806516 @default.
• W1525631450 cites W2099933479 @default.
• W1525631450 cites W2132954098 @default.
• W1525631450 cites W2151693035 @default.
• W1525631450 cites W2155170885 @default.
• W1525631450 cites W2167958302 @default.
• W1525631450 cites W2264057435 @default.
• W1525631450 cites W2339183564 @default.
• W1525631450 cites W2339540275 @default.
• W1525631450 cites W2418091763 @default.
• W1525631450 cites W344620921 @default.
• W1525631450 doi "https://doi.org/10.1182/blood.v96.7.2317" @default.
• W1525631450 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11001877" @default.
• W1525631450 hasPublicationYear "2000" @default.
• W1525631450 type Work @default.
• W1525631450 sameAs 1525631450 @default.
• W1525631450 citedByCount "504" @default.
• W1525631450 countsByYear W15256314502012 @default.
• W1525631450 countsByYear W15256314502013 @default.
• W1525631450 countsByYear W15256314502014 @default.
• W1525631450 countsByYear W15256314502015 @default.
• W1525631450 countsByYear W15256314502016 @default.
• W1525631450 countsByYear W15256314502017 @default.
• W1525631450 countsByYear W15256314502018 @default.
• W1525631450 countsByYear W15256314502019 @default.
• W1525631450 countsByYear W15256314502020 @default.
• W1525631450 countsByYear W15256314502021 @default.
• W1525631450 countsByYear W15256314502022 @default.
• W1525631450 countsByYear W15256314502023 @default.
• W1525631450 crossrefType "journal-article" @default.
• W1525631450 hasAuthorship W1525631450A5002662637 @default.
• W1525631450 hasAuthorship W1525631450A5004881655 @default.
• W1525631450 hasAuthorship W1525631450A5008970027 @default.
• W1525631450 hasAuthorship W1525631450A5011776125 @default.
• W1525631450 hasAuthorship W1525631450A5012976716 @default.
• W1525631450 hasAuthorship W1525631450A5013612745 @default.
• W1525631450 hasAuthorship W1525631450A5015520404 @default.
• W1525631450 hasAuthorship W1525631450A5028046331 @default.
• W1525631450 hasAuthorship W1525631450A5028349312 @default.
• W1525631450 hasAuthorship W1525631450A5037504084 @default.
• W1525631450 hasAuthorship W1525631450A5041235770 @default.
• W1525631450 hasAuthorship W1525631450A5082170535 @default.
• W1525631450 hasConcept C126322002 @default.
• W1525631450 hasConcept C203014093 @default.
• W1525631450 hasConcept C2776317360 @default.
• W1525631450 hasConcept C2776694085 @default.
• W1525631450 hasConcept C2776914184 @default.
• W1525631450 hasConcept C2777063308 @default.
• W1525631450 hasConcept C2778527355 @default.
• W1525631450 hasConcept C2908751872 @default.
• W1525631450 hasConcept C71924100 @default.
• W1525631450 hasConcept C86803240 @default.
• W1525631450 hasConceptScore W1525631450C126322002 @default.
• W1525631450 hasConceptScore W1525631450C203014093 @default.
• W1525631450 hasConceptScore W1525631450C2776317360 @default.
• W1525631450 hasConceptScore W1525631450C2776694085 @default.
• W1525631450 hasConceptScore W1525631450C2776914184 @default.
• W1525631450 hasConceptScore W1525631450C2777063308 @default.
• W1525631450 hasConceptScore W1525631450C2778527355 @default.
• W1525631450 hasConceptScore W1525631450C2908751872 @default.
• W1525631450 hasConceptScore W1525631450C71924100 @default.
• W1525631450 hasConceptScore W1525631450C86803240 @default.
• W1525631450 hasIssue "7" @default.
• W1525631450 hasLocation W15256314501 @default.
• W1525631450 hasOpenAccess W1525631450 @default.
• W1525631450 hasPrimaryLocation W15256314501 @default.
• W1525631450 hasRelatedWork W1525631450 @default.
• W1525631450 hasRelatedWork W161758783 @default.

• next