FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2904195768> ?p ?o ?g. }

• W2904195768 endingPage "215.e21" @default.
• W2904195768 startingPage "215.e15" @default.
• W2904195768 abstract "Familial Alzheimer's disease (FAD) is characterized by a positive family history of dementia and typically occurs at an early age with an autosomal dominant pattern of inheritance. Amyloid precursor protein (APP), presenilin1 (PSEN1), and presenilin2 (PSEN2) are the major causative genes of FAD. The spectrum of mutations in patients with FAD has been investigated extensively in the Caucasian population but rarely in the Chinese population. Here, we performed whole-exome sequencing in a total of 15 unrelated Chinese patients with FAD. Among them, 12 were found to carry missense variants in APP, PSEN1, and PSEN2. Two novel variants (APP: p.D244G, p.K687Q), 3 variants not previously associated with FAD (APP: p.T297M, p.D332G; PSEN1: p.R157S), and 7 previously reported pathogenic variants (APP: p.V717I; PSEN1: p.M139I, p.T147I, p.L173W, p.F177S, p.R269H; PSEN2: p.V139M) were identified. The novel variant APP p.K687Q was classified as likely pathogenic, and the other 4 variants (APP: p.D244G, p.T297M, p.D332G; PSEN1: p.R157S) were classified as uncertain significance. Therefore, APP, PSEN1, and PSEN2 mutations account for 2 (25.0%), 5 (62.5%), and 1 (12.5%) of the genotyped cases positive for mutations, respectively. Furthermore, the genotype-phenotype correlations were described. Our findings broaden the genetic spectrum of FAD with APP, PSEN1, and PSEN2 variants." @default.
• W2904195768 created "2018-12-22" @default.
• W2904195768 creator A5002839317 @default.
• W2904195768 creator A5004142846 @default.
• W2904195768 creator A5018395546 @default.
• W2904195768 creator A5022583936 @default.
• W2904195768 creator A5056173721 @default.
• W2904195768 creator A5057470622 @default.
• W2904195768 creator A5065162774 @default.
• W2904195768 creator A5079073080 @default.
• W2904195768 creator A5083532069 @default.
• W2904195768 creator A5091696196 @default.
• W2904195768 date "2019-04-01" @default.
• W2904195768 modified "2023-10-15" @default.
• W2904195768 title "Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing" @default.
• W2904195768 cites W1433954294 @default.
• W2904195768 cites W1966227821 @default.
• W2904195768 cites W1971590959 @default.
• W2904195768 cites W1973884709 @default.
• W2904195768 cites W1974547595 @default.
• W2904195768 cites W1983351866 @default.
• W2904195768 cites W1999046457 @default.
• W2904195768 cites W2001788063 @default.
• W2904195768 cites W2003934444 @default.
• W2904195768 cites W2006769360 @default.
• W2904195768 cites W2019636151 @default.
• W2904195768 cites W2029516184 @default.
• W2904195768 cites W2043262203 @default.
• W2904195768 cites W2043415277 @default.
• W2904195768 cites W2051978340 @default.
• W2904195768 cites W2053351029 @default.
• W2904195768 cites W2087850142 @default.
• W2904195768 cites W2088362843 @default.
• W2904195768 cites W2088645009 @default.
• W2904195768 cites W2095519862 @default.
• W2904195768 cites W2098592082 @default.
• W2904195768 cites W2107198641 @default.
• W2904195768 cites W2122315265 @default.
• W2904195768 cites W2147778596 @default.
• W2904195768 cites W2156220037 @default.
• W2904195768 cites W2159237576 @default.
• W2904195768 cites W2163752844 @default.
• W2904195768 cites W2166625407 @default.
• W2904195768 cites W2306696647 @default.
• W2904195768 cites W2329336071 @default.
• W2904195768 cites W2329785559 @default.
• W2904195768 cites W2407468727 @default.
• W2904195768 cites W2520979009 @default.
• W2904195768 cites W2537433501 @default.
• W2904195768 cites W2545227448 @default.
• W2904195768 cites W2559911659 @default.
• W2904195768 cites W2569555624 @default.
• W2904195768 cites W2595470613 @default.
• W2904195768 cites W2600872530 @default.
• W2904195768 cites W2617693460 @default.
• W2904195768 cites W2625978773 @default.
• W2904195768 cites W2808209916 @default.
• W2904195768 cites W326308327 @default.
• W2904195768 cites W4211213171 @default.
• W2904195768 doi "https://doi.org/10.1016/j.neurobiolaging.2018.11.024" @default.
• W2904195768 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30598257" @default.
• W2904195768 hasPublicationYear "2019" @default.
• W2904195768 type Work @default.
• W2904195768 sameAs 2904195768 @default.
• W2904195768 citedByCount "28" @default.
• W2904195768 countsByYear W29041957682019 @default.
• W2904195768 countsByYear W29041957682020 @default.
• W2904195768 countsByYear W29041957682021 @default.
• W2904195768 countsByYear W29041957682022 @default.
• W2904195768 countsByYear W29041957682023 @default.
• W2904195768 crossrefType "journal-article" @default.
• W2904195768 hasAuthorship W2904195768A5002839317 @default.
• W2904195768 hasAuthorship W2904195768A5004142846 @default.
• W2904195768 hasAuthorship W2904195768A5018395546 @default.
• W2904195768 hasAuthorship W2904195768A5022583936 @default.
• W2904195768 hasAuthorship W2904195768A5056173721 @default.
• W2904195768 hasAuthorship W2904195768A5057470622 @default.
• W2904195768 hasAuthorship W2904195768A5065162774 @default.
• W2904195768 hasAuthorship W2904195768A5079073080 @default.
• W2904195768 hasAuthorship W2904195768A5083532069 @default.
• W2904195768 hasAuthorship W2904195768A5091696196 @default.
• W2904195768 hasConcept C104317684 @default.
• W2904195768 hasConcept C10590036 @default.
• W2904195768 hasConcept C126322002 @default.
• W2904195768 hasConcept C16671776 @default.
• W2904195768 hasConcept C2776485563 @default.
• W2904195768 hasConcept C2779134260 @default.
• W2904195768 hasConcept C2779483572 @default.
• W2904195768 hasConcept C2781340033 @default.
• W2904195768 hasConcept C2908647359 @default.
• W2904195768 hasConcept C31705614 @default.
• W2904195768 hasConcept C501734568 @default.
• W2904195768 hasConcept C502032728 @default.
• W2904195768 hasConcept C54355233 @default.
• W2904195768 hasConcept C71924100 @default.
• W2904195768 hasConcept C75563809 @default.
• W2904195768 hasConcept C86803240 @default.
• W2904195768 hasConcept C99454951 @default.

• next