FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3104609310> ?p ?o ?g. }

• W3104609310 abstract "Abstract Mutations in PSEN1 , PSEN2 , or APP genes are known to be causative for autosomal dominant Alzheimer’s disease (ADAD). While more than 400 mutations were reported worldwide, predominantly PSEN1 , over 40 mutations have been reported in Han Chinese and were associated with earlier onset and more affected family members. Between 2002 and 2018, 77 patients in the neurological clinic of Taipei Veterans General Hospital with a history suggestive of ADAD were referred for mutational analysis. We retrospectively collected demographics, initial symptoms, neurological features and inheritance. We identified 16 patients with PSEN1 and 1 with APP mutation. Among the mutations identified, PSEN1 p.Pro117Leu, p.Met146Ile, p.Gly206Asp, p.Gly209Glu, p.Glu280Lys and p.Leu286Val and APP p.Asp678His were known pathogenic mutations; PSEN1 p.His131Arg and p.Arg157Ser were classified as likely pathogenic and variance of unknown significance respectively. The mean age at onset was 46.2 ± 6.2 years in patients with mutation found. PSEN1 p.Met146Ile, occurred in 56.2% (9/16) of patients with PSEN1 mutations, was the most frequent mutation in the cohort. The additional neurological features occurring in 9 PSEN1 p.Met146Ile index patients were similar with the literature. We found patients with genetic diagnoses were more likely to have positive family history, younger age at onset and less brain white matter hyperintensity." @default.
• W3104609310 created "2020-11-23" @default.
• W3104609310 creator A5025413129 @default.
• W3104609310 creator A5035844089 @default.
• W3104609310 creator A5036820200 @default.
• W3104609310 creator A5039006455 @default.
• W3104609310 creator A5062440039 @default.
• W3104609310 date "2020-11-13" @default.
• W3104609310 modified "2023-10-14" @default.
• W3104609310 title "Mutational analysis in familial Alzheimer’s disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile" @default.
• W3104609310 cites W1260792146 @default.
• W3104609310 cites W1591833117 @default.
• W3104609310 cites W1602927283 @default.
• W3104609310 cites W1965771106 @default.
• W3104609310 cites W1966227821 @default.
• W3104609310 cites W1974547595 @default.
• W3104609310 cites W1980740976 @default.
• W3104609310 cites W2010595044 @default.
• W3104609310 cites W2023522261 @default.
• W3104609310 cites W2025911651 @default.
• W3104609310 cites W2038473742 @default.
• W3104609310 cites W2040138770 @default.
• W3104609310 cites W2046209489 @default.
• W3104609310 cites W2046961223 @default.
• W3104609310 cites W2057549049 @default.
• W3104609310 cites W2059145105 @default.
• W3104609310 cites W2067108324 @default.
• W3104609310 cites W2073704038 @default.
• W3104609310 cites W2092243620 @default.
• W3104609310 cites W2093486150 @default.
• W3104609310 cites W2098284438 @default.
• W3104609310 cites W2116964904 @default.
• W3104609310 cites W2131943911 @default.
• W3104609310 cites W2147778596 @default.
• W3104609310 cites W2147883225 @default.
• W3104609310 cites W2156717321 @default.
• W3104609310 cites W2157405068 @default.
• W3104609310 cites W2160995259 @default.
• W3104609310 cites W2256016639 @default.
• W3104609310 cites W2306696647 @default.
• W3104609310 cites W2309640507 @default.
• W3104609310 cites W2407468727 @default.
• W3104609310 cites W2535940399 @default.
• W3104609310 cites W2538894230 @default.
• W3104609310 cites W2770026599 @default.
• W3104609310 cites W2895801203 @default.
• W3104609310 cites W2899781827 @default.
• W3104609310 cites W2934718237 @default.
• W3104609310 cites W2977212478 @default.
• W3104609310 cites W2990541812 @default.
• W3104609310 cites W2999559109 @default.
• W3104609310 cites W3006851967 @default.
• W3104609310 cites W3029661147 @default.
• W3104609310 cites W4211016192 @default.
• W3104609310 doi "https://doi.org/10.1038/s41598-020-76794-9" @default.
• W3104609310 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7666133" @default.
• W3104609310 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33188256" @default.
• W3104609310 hasPublicationYear "2020" @default.
• W3104609310 type Work @default.
• W3104609310 sameAs 3104609310 @default.
• W3104609310 citedByCount "7" @default.
• W3104609310 countsByYear W31046093102021 @default.
• W3104609310 countsByYear W31046093102022 @default.
• W3104609310 countsByYear W31046093102023 @default.
• W3104609310 crossrefType "journal-article" @default.
• W3104609310 hasAuthorship W3104609310A5025413129 @default.
• W3104609310 hasAuthorship W3104609310A5035844089 @default.
• W3104609310 hasAuthorship W3104609310A5036820200 @default.
• W3104609310 hasAuthorship W3104609310A5039006455 @default.
• W3104609310 hasAuthorship W3104609310A5062440039 @default.
• W3104609310 hasBestOaLocation W31046093101 @default.
• W3104609310 hasConcept C104317684 @default.
• W3104609310 hasConcept C126322002 @default.
• W3104609310 hasConcept C175344181 @default.
• W3104609310 hasConcept C2776485563 @default.
• W3104609310 hasConcept C2779134260 @default.
• W3104609310 hasConcept C2779483572 @default.
• W3104609310 hasConcept C2781179581 @default.
• W3104609310 hasConcept C501734568 @default.
• W3104609310 hasConcept C502032728 @default.
• W3104609310 hasConcept C54355233 @default.
• W3104609310 hasConcept C71924100 @default.
• W3104609310 hasConcept C72563966 @default.
• W3104609310 hasConcept C86803240 @default.
• W3104609310 hasConceptScore W3104609310C104317684 @default.
• W3104609310 hasConceptScore W3104609310C126322002 @default.
• W3104609310 hasConceptScore W3104609310C175344181 @default.
• W3104609310 hasConceptScore W3104609310C2776485563 @default.
• W3104609310 hasConceptScore W3104609310C2779134260 @default.
• W3104609310 hasConceptScore W3104609310C2779483572 @default.
• W3104609310 hasConceptScore W3104609310C2781179581 @default.
• W3104609310 hasConceptScore W3104609310C501734568 @default.
• W3104609310 hasConceptScore W3104609310C502032728 @default.
• W3104609310 hasConceptScore W3104609310C54355233 @default.
• W3104609310 hasConceptScore W3104609310C71924100 @default.
• W3104609310 hasConceptScore W3104609310C72563966 @default.
• W3104609310 hasConceptScore W3104609310C86803240 @default.
• W3104609310 hasFunder F4320321041 @default.
• W3104609310 hasFunder F4320322795 @default.
• W3104609310 hasFunder F4320327358 @default.

• next