FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4361001275> ?p ?o ?g. }

• W4361001275 abstract "Mutations in the presenilin-1 (PSEN1), presenilin-2 (PSEN2), and amyloid precursor protein (APP) genes have been commonly identified in early-onset Alzheimer's disease (EOAD). Some of the mutations in the three causative genes, especially the PSEN1 gene, result in variable phenotypes and exhibit clinical heterogeneity among EOAD families.Using next-generation sequencing (NGS), we performed genetic screening in a Chinese cohort of 18 patients with EOAD, consisting of five familial EOAD and 13 sporadic cases.We identified two likely pathogenic PSEN1 mutations (one novel) and a novel APP mutation in three cases of EOAD, where two are familial and one is sporadic, respectively. In addition, we detected a few variants of uncertain significance (VUS) in several genes, including not only the two known variants in PSEN2 (p.H169N and p.V214L) but also genes causal of other types of dementia or previously identified as risk factors for AD, suggesting the possible involvement of multiple genes in the etiopathology of AD. The patients carrying PSEN1 mutations had an earlier mean age at the onset than those with PSEN2 or APP variants. The initial symptoms varied greatly among patients in the EOAD cohort, from progressive memory impairment and epilepsy to uncommon motor symptoms such as involuntary tremors in the upper extremities.In conclusion, our study provides further evidence of the genetic profile of patients with EOAD from China and expands the mutation spectrum of both PSEN1 and APP. In addition, our results highlight the clinical heterogeneity in patients with EOAD and mutations in PSEN1, PSEN2, and APP and suggest strong effects of genetic variants on clinical phenotypes. Future functional studies are needed to clarify the interaction between AD-causative gene mutations and phenotypic heterogeneity." @default.
• W4361001275 created "2023-03-30" @default.
• W4361001275 creator A5025449322 @default.
• W4361001275 creator A5055323200 @default.
• W4361001275 creator A5066762784 @default.
• W4361001275 creator A5081073916 @default.
• W4361001275 date "2023-03-27" @default.
• W4361001275 modified "2023-09-30" @default.
• W4361001275 title "Clinical and genetic characteristics in a central-southern Chinese cohort of early-onset Alzheimer's disease" @default.
• W4361001275 cites W1260792146 @default.
• W4361001275 cites W1489003607 @default.
• W4361001275 cites W1964933013 @default.
• W4361001275 cites W1966344512 @default.
• W4361001275 cites W1973884709 @default.
• W4361001275 cites W1975675335 @default.
• W4361001275 cites W1998334073 @default.
• W4361001275 cites W2023123800 @default.
• W4361001275 cites W2035247606 @default.
• W4361001275 cites W2065210746 @default.
• W4361001275 cites W2079253178 @default.
• W4361001275 cites W2104502899 @default.
• W4361001275 cites W2106403755 @default.
• W4361001275 cites W2107198641 @default.
• W4361001275 cites W2115017507 @default.
• W4361001275 cites W2116964904 @default.
• W4361001275 cites W2134310798 @default.
• W4361001275 cites W2135990814 @default.
• W4361001275 cites W2141455952 @default.
• W4361001275 cites W2146535845 @default.
• W4361001275 cites W2147778596 @default.
• W4361001275 cites W2170959965 @default.
• W4361001275 cites W2407468727 @default.
• W4361001275 cites W2476248361 @default.
• W4361001275 cites W2538894230 @default.
• W4361001275 cites W2561993225 @default.
• W4361001275 cites W2883979929 @default.
• W4361001275 cites W2886564602 @default.
• W4361001275 cites W2904195768 @default.
• W4361001275 cites W2948816384 @default.
• W4361001275 cites W2985780951 @default.
• W4361001275 cites W2999559109 @default.
• W4361001275 cites W3006851967 @default.
• W4361001275 cites W3020389411 @default.
• W4361001275 cites W3082643392 @default.
• W4361001275 cites W3131987030 @default.
• W4361001275 cites W4223591189 @default.
• W4361001275 cites W4306178509 @default.
• W4361001275 doi "https://doi.org/10.3389/fneur.2023.1119326" @default.
• W4361001275 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37051054" @default.
• W4361001275 hasPublicationYear "2023" @default.
• W4361001275 type Work @default.
• W4361001275 citedByCount "0" @default.
• W4361001275 crossrefType "journal-article" @default.
• W4361001275 hasAuthorship W4361001275A5025449322 @default.
• W4361001275 hasAuthorship W4361001275A5055323200 @default.
• W4361001275 hasAuthorship W4361001275A5066762784 @default.
• W4361001275 hasAuthorship W4361001275A5081073916 @default.
• W4361001275 hasBestOaLocation W43610012751 @default.
• W4361001275 hasConcept C104317684 @default.
• W4361001275 hasConcept C126322002 @default.
• W4361001275 hasConcept C175344181 @default.
• W4361001275 hasConcept C2776485563 @default.
• W4361001275 hasConcept C2779134260 @default.
• W4361001275 hasConcept C2779483572 @default.
• W4361001275 hasConcept C2781340033 @default.
• W4361001275 hasConcept C501734568 @default.
• W4361001275 hasConcept C502032728 @default.
• W4361001275 hasConcept C54355233 @default.
• W4361001275 hasConcept C69991583 @default.
• W4361001275 hasConcept C71924100 @default.
• W4361001275 hasConcept C86803240 @default.
• W4361001275 hasConceptScore W4361001275C104317684 @default.
• W4361001275 hasConceptScore W4361001275C126322002 @default.
• W4361001275 hasConceptScore W4361001275C175344181 @default.
• W4361001275 hasConceptScore W4361001275C2776485563 @default.
• W4361001275 hasConceptScore W4361001275C2779134260 @default.
• W4361001275 hasConceptScore W4361001275C2779483572 @default.
• W4361001275 hasConceptScore W4361001275C2781340033 @default.
• W4361001275 hasConceptScore W4361001275C501734568 @default.
• W4361001275 hasConceptScore W4361001275C502032728 @default.
• W4361001275 hasConceptScore W4361001275C54355233 @default.
• W4361001275 hasConceptScore W4361001275C69991583 @default.
• W4361001275 hasConceptScore W4361001275C71924100 @default.
• W4361001275 hasConceptScore W4361001275C86803240 @default.
• W4361001275 hasFunder F4320321001 @default.
• W4361001275 hasLocation W43610012751 @default.
• W4361001275 hasLocation W43610012752 @default.
• W4361001275 hasLocation W43610012753 @default.
• W4361001275 hasOpenAccess W4361001275 @default.
• W4361001275 hasPrimaryLocation W43610012751 @default.
• W4361001275 hasRelatedWork W1964933013 @default.
• W4361001275 hasRelatedWork W1972934209 @default.
• W4361001275 hasRelatedWork W1974015070 @default.
• W4361001275 hasRelatedWork W2038281098 @default.
• W4361001275 hasRelatedWork W2096858239 @default.
• W4361001275 hasRelatedWork W2120085721 @default.
• W4361001275 hasRelatedWork W2236450229 @default.
• W4361001275 hasRelatedWork W2355760844 @default.
• W4361001275 hasRelatedWork W2537433501 @default.
• W4361001275 hasRelatedWork W2766902548 @default.

• next