Matches in SemOpenAlex for { <https://semopenalex.org/work/W2909204798> ?p ?o ?g. }
- W2909204798 endingPage "242" @default.
- W2909204798 startingPage "231" @default.
- W2909204798 abstract "Background:Alzheimer’s disease (AD) is a chronic neurological disorder associated with mental decline and dementia. Several studies focused on investigating the molecular basis of the disease that led to the identification of several causative genes and risk associated alleles. Replication of these studies and findings from different populations is very important. Objective:Molecular assessment of a cohort of 117 familial and sporadic AD cases from Saudi Arabia. Methods:Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1. All patients were also genotyped for APOE alleles. In silico 3D protein structure analysis was performed for two novel SORL1 variants. Results:We identified a total of eight potential pathogenic missense variants in all studied genes. Five of these variants were not previously reported including four in SORL1 (p.Val297Met, p.Arg1084Cys, p.Asp1100Asn, and p.Pro1213Ser) and one in APP (p.Glu380Lys). The frequency of APOE-ɛ4 allele was 21.37% of total investigated cases. In silico 3D protein structure analysis of two SORL1 novel missense variants (p.Pro1213Ser and p.Arg1084Cys) suggested that these variants may affect the folding of the proteins and disturb their structure. Conclusions:Our comprehensive analysis of the open reading frame of the known genes have identified potential pathogenic rare variants in 18/117 cases. We found that point mutations in AD main genes (PSEN1, PSEN2, and APP) were underrepresented in our cohort of patients. Our results confirm involvement of SORL1 in familial and sporadic AD cases." @default.
- W2909204798 created "2019-01-25" @default.
- W2909204798 creator A5017264187 @default.
- W2909204798 creator A5031677626 @default.
- W2909204798 creator A5033690292 @default.
- W2909204798 creator A5052156166 @default.
- W2909204798 creator A5054659941 @default.
- W2909204798 creator A5056995680 @default.
- W2909204798 creator A5059609900 @default.
- W2909204798 creator A5059931599 @default.
- W2909204798 creator A5062119318 @default.
- W2909204798 date "2019-01-08" @default.
- W2909204798 modified "2023-10-18" @default.
- W2909204798 title "Genetic Study of Alzheimer’s Disease in Saudi Population" @default.
- W2909204798 cites W1151405824 @default.
- W2909204798 cites W1496340369 @default.
- W2909204798 cites W1600934558 @default.
- W2909204798 cites W1611407165 @default.
- W2909204798 cites W1732628185 @default.
- W2909204798 cites W1885425781 @default.
- W2909204798 cites W1966831629 @default.
- W2909204798 cites W1974215115 @default.
- W2909204798 cites W1978065874 @default.
- W2909204798 cites W1983073415 @default.
- W2909204798 cites W1984544042 @default.
- W2909204798 cites W1992192767 @default.
- W2909204798 cites W2005742709 @default.
- W2909204798 cites W2011199056 @default.
- W2909204798 cites W2014092419 @default.
- W2909204798 cites W2021181758 @default.
- W2909204798 cites W2026563454 @default.
- W2909204798 cites W2028857633 @default.
- W2909204798 cites W2036362108 @default.
- W2909204798 cites W2036963269 @default.
- W2909204798 cites W2046209489 @default.
- W2909204798 cites W2046847750 @default.
- W2909204798 cites W2056037081 @default.
- W2909204798 cites W2056046302 @default.
- W2909204798 cites W2058880763 @default.
- W2909204798 cites W2060089868 @default.
- W2909204798 cites W2071867775 @default.
- W2909204798 cites W2072870250 @default.
- W2909204798 cites W2074986801 @default.
- W2909204798 cites W2082967331 @default.
- W2909204798 cites W2083633251 @default.
- W2909204798 cites W2087850142 @default.
- W2909204798 cites W2091861303 @default.
- W2909204798 cites W2095519862 @default.
- W2909204798 cites W2097608504 @default.
- W2909204798 cites W2098665843 @default.
- W2909204798 cites W2099248872 @default.
- W2909204798 cites W2102993309 @default.
- W2909204798 cites W2107590165 @default.
- W2909204798 cites W2115106388 @default.
- W2909204798 cites W2115779804 @default.
- W2909204798 cites W2119487442 @default.
- W2909204798 cites W2121349242 @default.
- W2909204798 cites W2123943285 @default.
- W2909204798 cites W2124490243 @default.
- W2909204798 cites W2128613449 @default.
- W2909204798 cites W2132040133 @default.
- W2909204798 cites W2132590722 @default.
- W2909204798 cites W2134099103 @default.
- W2909204798 cites W2136513422 @default.
- W2909204798 cites W2140718540 @default.
- W2909204798 cites W2143884110 @default.
- W2909204798 cites W2145210308 @default.
- W2909204798 cites W2152119060 @default.
- W2909204798 cites W2155201844 @default.
- W2909204798 cites W2157405068 @default.
- W2909204798 cites W2159779012 @default.
- W2909204798 cites W2163752844 @default.
- W2909204798 cites W2166336042 @default.
- W2909204798 cites W2170959965 @default.
- W2909204798 cites W2172874924 @default.
- W2909204798 cites W2254480395 @default.
- W2909204798 cites W2342587579 @default.
- W2909204798 cites W2550030466 @default.
- W2909204798 cites W2559259678 @default.
- W2909204798 cites W2600872530 @default.
- W2909204798 cites W2614414423 @default.
- W2909204798 cites W2620116489 @default.
- W2909204798 cites W3214092816 @default.
- W2909204798 cites W4252746689 @default.
- W2909204798 doi "https://doi.org/10.3233/jad-180415" @default.
- W2909204798 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30636737" @default.
- W2909204798 hasPublicationYear "2019" @default.
- W2909204798 type Work @default.
- W2909204798 sameAs 2909204798 @default.
- W2909204798 citedByCount "9" @default.
- W2909204798 countsByYear W29092047982019 @default.
- W2909204798 countsByYear W29092047982020 @default.
- W2909204798 countsByYear W29092047982021 @default.
- W2909204798 countsByYear W29092047982022 @default.
- W2909204798 countsByYear W29092047982023 @default.
- W2909204798 crossrefType "journal-article" @default.
- W2909204798 hasAuthorship W2909204798A5017264187 @default.
- W2909204798 hasAuthorship W2909204798A5031677626 @default.