Matches in SemOpenAlex for { <https://semopenalex.org/work/W2133125037> ?p ?o ?g. }
Showing items 1 to 77 of
77
with 100 items per page.
- W2133125037 endingPage "9" @default.
- W2133125037 startingPage "325" @default.
- W2133125037 abstract "Isolated platelet dense granule (PDG) deficiency is a heterogeneous disorder frequently found among patients with mild to moderate bleeding diatheses. However, the molecular basis of this disorder is unknown. Genes involved in other rare bleeding disorders with associated reduction in the numbers of platelet dense-granules may play a role in isolated PDG deficiency. Among such genes, HPS1 is known to play a key role in the genesis of PDG and as many as 18 different HPS1 mutations have been identified in patients with Hermansky-Pudlak syndrome. Recently, we have identified subjects with one HPS1 heterozygous mutation displaying significant reductions in PDG without the clinical phenotype of Hermansky-Pudlak syndrome. This suggested that HPS1 mutations could be involved in isolated PDG deficiency.We sequenced all coding exons, and flanking intron regions of HPS1 in 16 patients with mild to severe PDG deficiency, most of whom had mild bleeding episodes. Nine patients reported a familial history of bleeding diathesis with PDG deficiency. We also evaluated the prevalence of HPS1 variations in 215 controls. Transmission electron microscopy was used to evaluate the number and morphology of PDG from patients and selected controls.No patient with PDG deficiency carried severe mutations of the HPS1 gene. We identified 6 previously described and 5 new polymorphisms in the HPS1 gene. Platelet electron microscopy in controls carrying these polymorphisms revealed that they did not significantly modify the number or morphology of PDG.Mutations affecting the HPS1 gene play a minor role in isolated PDG deficiency. These results support a molecular heterogeneity responsible for the number and morphology of PDG." @default.
- W2133125037 created "2016-06-24" @default.
- W2133125037 creator A5000211435 @default.
- W2133125037 creator A5008521633 @default.
- W2133125037 creator A5020135505 @default.
- W2133125037 creator A5033392955 @default.
- W2133125037 creator A5064868294 @default.
- W2133125037 date "2004-03-01" @default.
- W2133125037 modified "2023-10-17" @default.
- W2133125037 title "Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency." @default.
- W2133125037 cites W1564337572 @default.
- W2133125037 cites W1954675413 @default.
- W2133125037 cites W1981974890 @default.
- W2133125037 cites W2012153447 @default.
- W2133125037 cites W2024937150 @default.
- W2133125037 cites W2032600755 @default.
- W2133125037 cites W2035191492 @default.
- W2133125037 cites W2043321552 @default.
- W2133125037 cites W2048676492 @default.
- W2133125037 cites W2067937528 @default.
- W2133125037 cites W2091487046 @default.
- W2133125037 cites W2095257837 @default.
- W2133125037 cites W2181359324 @default.
- W2133125037 cites W2283135561 @default.
- W2133125037 cites W2334019448 @default.
- W2133125037 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15020272" @default.
- W2133125037 hasPublicationYear "2004" @default.
- W2133125037 type Work @default.
- W2133125037 sameAs 2133125037 @default.
- W2133125037 citedByCount "1" @default.
- W2133125037 crossrefType "journal-article" @default.
- W2133125037 hasAuthorship W2133125037A5000211435 @default.
- W2133125037 hasAuthorship W2133125037A5008521633 @default.
- W2133125037 hasAuthorship W2133125037A5020135505 @default.
- W2133125037 hasAuthorship W2133125037A5033392955 @default.
- W2133125037 hasAuthorship W2133125037A5064868294 @default.
- W2133125037 hasConcept C104317684 @default.
- W2133125037 hasConcept C142724271 @default.
- W2133125037 hasConcept C2775849878 @default.
- W2133125037 hasConcept C2779778433 @default.
- W2133125037 hasConcept C2780559512 @default.
- W2133125037 hasConcept C2781244666 @default.
- W2133125037 hasConcept C36823959 @default.
- W2133125037 hasConcept C54355233 @default.
- W2133125037 hasConcept C71924100 @default.
- W2133125037 hasConcept C86803240 @default.
- W2133125037 hasConceptScore W2133125037C104317684 @default.
- W2133125037 hasConceptScore W2133125037C142724271 @default.
- W2133125037 hasConceptScore W2133125037C2775849878 @default.
- W2133125037 hasConceptScore W2133125037C2779778433 @default.
- W2133125037 hasConceptScore W2133125037C2780559512 @default.
- W2133125037 hasConceptScore W2133125037C2781244666 @default.
- W2133125037 hasConceptScore W2133125037C36823959 @default.
- W2133125037 hasConceptScore W2133125037C54355233 @default.
- W2133125037 hasConceptScore W2133125037C71924100 @default.
- W2133125037 hasConceptScore W2133125037C86803240 @default.
- W2133125037 hasIssue "3" @default.
- W2133125037 hasLocation W21331250371 @default.
- W2133125037 hasOpenAccess W2133125037 @default.
- W2133125037 hasPrimaryLocation W21331250371 @default.
- W2133125037 hasRelatedWork W1995191837 @default.
- W2133125037 hasRelatedWork W1997787414 @default.
- W2133125037 hasRelatedWork W1999055441 @default.
- W2133125037 hasRelatedWork W2041880511 @default.
- W2133125037 hasRelatedWork W2140568562 @default.
- W2133125037 hasRelatedWork W2222174534 @default.
- W2133125037 hasRelatedWork W270480254 @default.
- W2133125037 hasRelatedWork W3036839191 @default.
- W2133125037 hasRelatedWork W3151416302 @default.
- W2133125037 hasRelatedWork W2092151765 @default.
- W2133125037 hasVolume "89" @default.
- W2133125037 isParatext "false" @default.
- W2133125037 isRetracted "false" @default.
- W2133125037 magId "2133125037" @default.
- W2133125037 workType "article" @default.