FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2059831768> ?p ?o ?g. }

• W2059831768 endingPage "36" @default.
• W2059831768 startingPage "29" @default.
• W2059831768 abstract "There is a high incidence of primary cutaneous amyloidosis (PCA) in South America, South-east Asia and Taiwan. To date, the aetiology of PCA remains unknown, but it is believed to be multifactorial. Although most cases are sporadic, some patients have a family history. Familial aggregation and different susceptibility to PCA among ethnic groups suggest that genetic factors may play an important role in its pathogenesis. However, no genetic loci for familial PCA (FPCA) have been identified so far.In order to identify the susceptibility gene of FPCA, we took a candidate gene approach and performed linkage analysis on chromosome 1q21.3-24.2, including the 1q23.2 region where the gene encoding serum amyloid P component (APCS) is located.Nine FPCA families including 29 individuals affected with PCA were recruited for this linkage study. Initially, 11 highly polymorphic microsatellite markers spanning the region from 1q21.3 to 1q24.2 were genotyped and revealed a suggestive linkage region. This region was further fine-mapped with seven additional markers. We also re-sequenced the 2.5-kb genomic region of the APCS gene in 29 affected and 42 control individuals. Two-point and multipoint linkage analyses were performed using the LINKAGE program. Nonparametric linkage (NPL) analysis and reconstruction of haplotypes were performed with the GENEHUNTER program.Both two-point and multipoint linkage analysis for all 11 markers generated negative or small positive total lod scores for all nine families. However, when we considered only three families, a maximum two-point total lod score of 2.09 was obtained for the marker D1S2844 at theta = 0.01. A plateau of multipoint total lod score between D1S2768 and D1S2878 with a maximum of 2.48 at the marker D1S2844 was observed. A maximum NPL score of 3.11 (P = 0.008) was also obtained for the marker D1S2878. However, re-sequencing of the APCS gene identified no functional mutation.Both parametric and nonparametric linkage evidence suggested that a possible susceptibility locus for a subset of FPCA might exist on chromosome 1q23. This is the first report demonstrating suggestive evidence of linkage of FPCA to a locus in this candidate region. No functional sequence variations of the APCS gene were found to be associated with this disease among the study families. Our data imply the existence of at least one additional locus responsible for FPCA in these families, confirming genetic heterogeneity of this skin disorder." @default.
• W2059831768 created "2016-06-24" @default.
• W2059831768 creator A5000025727 @default.
• W2059831768 creator A5028892906 @default.
• W2059831768 creator A5034747292 @default.
• W2059831768 creator A5051324775 @default.
• W2059831768 creator A5053090826 @default.
• W2059831768 creator A5064969563 @default.
• W2059831768 creator A5066147502 @default.
• W2059831768 creator A5076580675 @default.
• W2059831768 creator A5088716963 @default.
• W2059831768 date "2005-01-01" @default.
• W2059831768 modified "2023-09-23" @default.
• W2059831768 title "Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23" @default.
• W2059831768 cites W1585112082 @default.
• W2059831768 cites W1973116444 @default.
• W2059831768 cites W1975059145 @default.
• W2059831768 cites W1984323425 @default.
• W2059831768 cites W1989432434 @default.
• W2059831768 cites W2002594332 @default.
• W2059831768 cites W2004492345 @default.
• W2059831768 cites W2027055502 @default.
• W2059831768 cites W2032812402 @default.
• W2059831768 cites W2035391976 @default.
• W2059831768 cites W2041024744 @default.
• W2059831768 cites W2044761914 @default.
• W2059831768 cites W2055507988 @default.
• W2059831768 cites W2061033316 @default.
• W2059831768 cites W2084569728 @default.
• W2059831768 cites W2104743461 @default.
• W2059831768 cites W2122792775 @default.
• W2059831768 cites W2144705838 @default.
• W2059831768 cites W4235294833 @default.
• W2059831768 cites W4243913203 @default.
• W2059831768 cites W4251078590 @default.
• W2059831768 doi "https://doi.org/10.1111/j.1365-2133.2004.06254.x" @default.
• W2059831768 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15656797" @default.
• W2059831768 hasPublicationYear "2005" @default.
• W2059831768 type Work @default.
• W2059831768 sameAs 2059831768 @default.
• W2059831768 citedByCount "18" @default.
• W2059831768 countsByYear W20598317682012 @default.
• W2059831768 countsByYear W20598317682013 @default.
• W2059831768 countsByYear W20598317682015 @default.
• W2059831768 countsByYear W20598317682016 @default.
• W2059831768 countsByYear W20598317682017 @default.
• W2059831768 crossrefType "journal-article" @default.
• W2059831768 hasAuthorship W2059831768A5000025727 @default.
• W2059831768 hasAuthorship W2059831768A5028892906 @default.
• W2059831768 hasAuthorship W2059831768A5034747292 @default.
• W2059831768 hasAuthorship W2059831768A5051324775 @default.
• W2059831768 hasAuthorship W2059831768A5053090826 @default.
• W2059831768 hasAuthorship W2059831768A5064969563 @default.
• W2059831768 hasAuthorship W2059831768A5066147502 @default.
• W2059831768 hasAuthorship W2059831768A5076580675 @default.
• W2059831768 hasAuthorship W2059831768A5088716963 @default.
• W2059831768 hasConcept C104317684 @default.
• W2059831768 hasConcept C142870003 @default.
• W2059831768 hasConcept C180754005 @default.
• W2059831768 hasConcept C197754878 @default.
• W2059831768 hasConcept C31266012 @default.
• W2059831768 hasConcept C54355233 @default.
• W2059831768 hasConcept C61320498 @default.
• W2059831768 hasConcept C69991583 @default.
• W2059831768 hasConcept C84597430 @default.
• W2059831768 hasConcept C86803240 @default.
• W2059831768 hasConceptScore W2059831768C104317684 @default.
• W2059831768 hasConceptScore W2059831768C142870003 @default.
• W2059831768 hasConceptScore W2059831768C180754005 @default.
• W2059831768 hasConceptScore W2059831768C197754878 @default.
• W2059831768 hasConceptScore W2059831768C31266012 @default.
• W2059831768 hasConceptScore W2059831768C54355233 @default.
• W2059831768 hasConceptScore W2059831768C61320498 @default.
• W2059831768 hasConceptScore W2059831768C69991583 @default.
• W2059831768 hasConceptScore W2059831768C84597430 @default.
• W2059831768 hasConceptScore W2059831768C86803240 @default.
• W2059831768 hasIssue "1" @default.
• W2059831768 hasLocation W20598317681 @default.
• W2059831768 hasLocation W20598317682 @default.
• W2059831768 hasOpenAccess W2059831768 @default.
• W2059831768 hasPrimaryLocation W20598317681 @default.
• W2059831768 hasRelatedWork W1969524910 @default.
• W2059831768 hasRelatedWork W2032139146 @default.
• W2059831768 hasRelatedWork W2039482405 @default.
• W2059831768 hasRelatedWork W2049234958 @default.
• W2059831768 hasRelatedWork W2058978807 @default.
• W2059831768 hasRelatedWork W2089703083 @default.
• W2059831768 hasRelatedWork W2158946780 @default.
• W2059831768 hasRelatedWork W2171695667 @default.
• W2059831768 hasRelatedWork W2181561449 @default.
• W2059831768 hasRelatedWork W1592611938 @default.
• W2059831768 hasVolume "152" @default.
• W2059831768 isParatext "false" @default.
• W2059831768 isRetracted "false" @default.
• W2059831768 magId "2059831768" @default.
• W2059831768 workType "article" @default.