Matches in SemOpenAlex for { <https://semopenalex.org/work/W2143291024> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2143291024 endingPage "28" @default.
- W2143291024 startingPage "25" @default.
- W2143291024 abstract "<h3>Background:</h3> No susceptibility genes have been identified in human prion disase, apart from the prion protein gene (<i>PRNP</i>). The gene <i>SPRN</i>, encodes Shadoo (Sho, shadow of prion protein) which has protein homology and possible functional links with the prion protein. <h3>Methods:</h3> A genetic screen was carried out of the open reading frame of <i>SPRN</i> by direct sequencing in 522 patients with prion disease, including 107 with variant Creutzfeldt–Jakob disease (vCJD), and 861 healthy controls. <h3>Results:</h3> A common coding variant of <i>SPRN</i>, two further single nucleotide polymorphisms (SNPs) and three rare insertion or deletion variants were found. A single base-pair insertion at codon 46, predicted to cause a frameshift and potentially a novel protein, was found in two patients with vCJD but not in controls (p = 0.01). Two linked SNPs, one in intron 1 and the other a missense variant at codon 7, were associated with risk of sporadic CJD (p = 0.009). <h3>Conclusion:</h3> These data justify the functional genetic characterisation of <i>SPRN</i> and support the involvement of Shadoo in prion pathobiology." @default.
- W2143291024 created "2016-06-24" @default.
- W2143291024 creator A5018233320 @default.
- W2143291024 creator A5038405190 @default.
- W2143291024 date "2007-01-01" @default.
- W2143291024 modified "2023-09-24" @default.
- W2143291024 title "Identification, diagnosis and assessment of atrial fibrillation" @default.
- W2143291024 cites W1947980380 @default.
- W2143291024 cites W1995031715 @default.
- W2143291024 cites W2007899327 @default.
- W2143291024 cites W2011839610 @default.
- W2143291024 cites W2017870704 @default.
- W2143291024 cites W2018796325 @default.
- W2143291024 cites W2028013985 @default.
- W2143291024 cites W2044658742 @default.
- W2143291024 cites W2049893530 @default.
- W2143291024 cites W2052464739 @default.
- W2143291024 cites W2073962065 @default.
- W2143291024 cites W2089155296 @default.
- W2143291024 cites W2127647046 @default.
- W2143291024 cites W2149705008 @default.
- W2143291024 cites W2153244902 @default.
- W2143291024 cites W2164238702 @default.
- W2143291024 cites W2260482868 @default.
- W2143291024 cites W2261294198 @default.
- W2143291024 cites W2298256887 @default.
- W2143291024 cites W4236955258 @default.
- W2143291024 cites W4243106582 @default.
- W2143291024 doi "https://doi.org/10.1136/hrt.2006.099861" @default.
- W2143291024 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1861326" @default.
- W2143291024 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16952973" @default.
- W2143291024 hasPublicationYear "2007" @default.
- W2143291024 type Work @default.
- W2143291024 sameAs 2143291024 @default.
- W2143291024 citedByCount "24" @default.
- W2143291024 countsByYear W21432910242014 @default.
- W2143291024 countsByYear W21432910242016 @default.
- W2143291024 countsByYear W21432910242018 @default.
- W2143291024 countsByYear W21432910242019 @default.
- W2143291024 countsByYear W21432910242020 @default.
- W2143291024 countsByYear W21432910242022 @default.
- W2143291024 countsByYear W21432910242023 @default.
- W2143291024 crossrefType "journal-article" @default.
- W2143291024 hasAuthorship W2143291024A5018233320 @default.
- W2143291024 hasAuthorship W2143291024A5038405190 @default.
- W2143291024 hasBestOaLocation W21432910242 @default.
- W2143291024 hasConcept C104317684 @default.
- W2143291024 hasConcept C135763542 @default.
- W2143291024 hasConcept C153209595 @default.
- W2143291024 hasConcept C167625842 @default.
- W2143291024 hasConcept C180754005 @default.
- W2143291024 hasConcept C2778147599 @default.
- W2143291024 hasConcept C29906990 @default.
- W2143291024 hasConcept C47289529 @default.
- W2143291024 hasConcept C501734568 @default.
- W2143291024 hasConcept C54355233 @default.
- W2143291024 hasConcept C71924100 @default.
- W2143291024 hasConcept C75563809 @default.
- W2143291024 hasConcept C86803240 @default.
- W2143291024 hasConcept C91779695 @default.
- W2143291024 hasConceptScore W2143291024C104317684 @default.
- W2143291024 hasConceptScore W2143291024C135763542 @default.
- W2143291024 hasConceptScore W2143291024C153209595 @default.
- W2143291024 hasConceptScore W2143291024C167625842 @default.
- W2143291024 hasConceptScore W2143291024C180754005 @default.
- W2143291024 hasConceptScore W2143291024C2778147599 @default.
- W2143291024 hasConceptScore W2143291024C29906990 @default.
- W2143291024 hasConceptScore W2143291024C47289529 @default.
- W2143291024 hasConceptScore W2143291024C501734568 @default.
- W2143291024 hasConceptScore W2143291024C54355233 @default.
- W2143291024 hasConceptScore W2143291024C71924100 @default.
- W2143291024 hasConceptScore W2143291024C75563809 @default.
- W2143291024 hasConceptScore W2143291024C86803240 @default.
- W2143291024 hasConceptScore W2143291024C91779695 @default.
- W2143291024 hasIssue "1" @default.
- W2143291024 hasLocation W21432910241 @default.
- W2143291024 hasLocation W21432910242 @default.
- W2143291024 hasLocation W21432910243 @default.
- W2143291024 hasLocation W21432910244 @default.
- W2143291024 hasOpenAccess W2143291024 @default.
- W2143291024 hasPrimaryLocation W21432910241 @default.
- W2143291024 hasRelatedWork W1964298625 @default.
- W2143291024 hasRelatedWork W2014058836 @default.
- W2143291024 hasRelatedWork W2055100847 @default.
- W2143291024 hasRelatedWork W2099973031 @default.
- W2143291024 hasRelatedWork W2148029908 @default.
- W2143291024 hasRelatedWork W2337602892 @default.
- W2143291024 hasRelatedWork W2349396032 @default.
- W2143291024 hasRelatedWork W4242276906 @default.
- W2143291024 hasRelatedWork W4248131731 @default.
- W2143291024 hasRelatedWork W4252082584 @default.
- W2143291024 hasVolume "93" @default.
- W2143291024 isParatext "false" @default.
- W2143291024 isRetracted "false" @default.
- W2143291024 magId "2143291024" @default.
- W2143291024 workType "article" @default.