FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4307052016> ?p ?o ?g. }

• W4307052016 endingPage "707" @default.
• W4307052016 startingPage "694" @default.
• W4307052016 abstract "Background: The clinical characteristics of symptomatic and asymptomatic carriers of early-onset autosomal dominant Alzheimer’s (EOADAD) due to a yet-undescribed chromosomal rearrangement may add to the available body of knowledge about Alzheimer’s disease and may enlighten novel and modifier genes. We report the clinical and genetic characteristics of asymptomatic and symptomatic individuals carrying a novel APP duplication rearrangement Methods: Individuals belonging to a seven-generation pedigree with familial cognitive decline or intra-cerebral hemorrhages were recruited. Participants underwent medical, neurological, and neuropsychological evaluations. The genetic analysis included chromosomal microarray, Karyotype, fluorescence in situ hybridization, and whole genome sequencing. Results: Of 68 individuals, six females presented with dementia, and four males presented with intracerebral hemorrhage. Of these, nine were found to carry Chromosome 21 copy number gain (chr21:27,224,097-27,871,284, GRCh37/hg19) including the APP locus (APP-dup). In seven, Chromosome 5 copy number gain (Chr5: 24,786,234-29,446,070, GRCh37/hg19) (Chr5-CNG) co-segregated with the APP-dup. Both duplications co-localized to chromosome 18q21.1 and segregated in 25 pre-symptomatic carriers. Compared to non-carriers, asymptomatic carriers manifested cognitive decline in their mid-thirties. A third of the affected individuals carried a diagnosis of a dis-immune condition. Conclusions: APP extra dosage, even in isolation and when located outside chromosome 21 is pathogenic. The clinical presentation of APP duplication varies and may be gender specific, i.e., ICH in males and cognitive-behavioral deterioration in females. The association with immune disorders is presently unclear but may prove relevant. The implication of Chr5-CNG co-segregation and the surrounding chromosome 18 genetic sequence needs further clarification." @default.
• W4307052016 created "2022-10-23" @default.
• W4307052016 creator A5012251713 @default.
• W4307052016 creator A5015206873 @default.
• W4307052016 creator A5015894304 @default.
• W4307052016 creator A5017392761 @default.
• W4307052016 creator A5019715605 @default.
• W4307052016 creator A5028845074 @default.
• W4307052016 creator A5034660547 @default.
• W4307052016 creator A5059082572 @default.
• W4307052016 creator A5064309731 @default.
• W4307052016 creator A5072013360 @default.
• W4307052016 creator A5075560888 @default.
• W4307052016 creator A5080630603 @default.
• W4307052016 creator A5083706444 @default.
• W4307052016 date "2022-09-01" @default.
• W4307052016 modified "2023-09-28" @default.
• W4307052016 title "Familial Early-Onset Alzheimer's Caused by Novel Genetic Variant and APP Duplication: A Cross-Sectional Study" @default.
• W4307052016 cites W1260792146 @default.
• W4307052016 cites W1776172174 @default.
• W4307052016 cites W1794166075 @default.
• W4307052016 cites W1969271586 @default.
• W4307052016 cites W2005257697 @default.
• W4307052016 cites W2018303840 @default.
• W4307052016 cites W2030360032 @default.
• W4307052016 cites W2046209489 @default.
• W4307052016 cites W2071203586 @default.
• W4307052016 cites W2075109360 @default.
• W4307052016 cites W2081569845 @default.
• W4307052016 cites W2082429191 @default.
• W4307052016 cites W2082651728 @default.
• W4307052016 cites W2083870688 @default.
• W4307052016 cites W2095519862 @default.
• W4307052016 cites W2096410114 @default.
• W4307052016 cites W2121101037 @default.
• W4307052016 cites W2135990814 @default.
• W4307052016 cites W2155894782 @default.
• W4307052016 cites W2167482501 @default.
• W4307052016 cites W2312474887 @default.
• W4307052016 cites W2384007878 @default.
• W4307052016 cites W2476248361 @default.
• W4307052016 cites W2759648068 @default.
• W4307052016 cites W2803318546 @default.
• W4307052016 cites W2901340036 @default.
• W4307052016 cites W2959995036 @default.
• W4307052016 cites W2999559109 @default.
• W4307052016 cites W3046275966 @default.
• W4307052016 cites W3048273196 @default.
• W4307052016 cites W3168434044 @default.
• W4307052016 cites W3198290795 @default.
• W4307052016 cites W4220756526 @default.
• W4307052016 cites W4221133543 @default.
• W4307052016 cites W4229332226 @default.
• W4307052016 doi "https://doi.org/10.2174/1567205020666221020095257" @default.
• W4307052016 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36278440" @default.
• W4307052016 hasPublicationYear "2022" @default.
• W4307052016 type Work @default.
• W4307052016 citedByCount "1" @default.
• W4307052016 countsByYear W43070520162023 @default.
• W4307052016 crossrefType "journal-article" @default.
• W4307052016 hasAuthorship W4307052016A5012251713 @default.
• W4307052016 hasAuthorship W4307052016A5015206873 @default.
• W4307052016 hasAuthorship W4307052016A5015894304 @default.
• W4307052016 hasAuthorship W4307052016A5017392761 @default.
• W4307052016 hasAuthorship W4307052016A5019715605 @default.
• W4307052016 hasAuthorship W4307052016A5028845074 @default.
• W4307052016 hasAuthorship W4307052016A5034660547 @default.
• W4307052016 hasAuthorship W4307052016A5059082572 @default.
• W4307052016 hasAuthorship W4307052016A5064309731 @default.
• W4307052016 hasAuthorship W4307052016A5072013360 @default.
• W4307052016 hasAuthorship W4307052016A5075560888 @default.
• W4307052016 hasAuthorship W4307052016A5080630603 @default.
• W4307052016 hasAuthorship W4307052016A5083706444 @default.
• W4307052016 hasConcept C104317684 @default.
• W4307052016 hasConcept C120821319 @default.
• W4307052016 hasConcept C141231307 @default.
• W4307052016 hasConcept C142724271 @default.
• W4307052016 hasConcept C2777910003 @default.
• W4307052016 hasConcept C2779134260 @default.
• W4307052016 hasConcept C2779483572 @default.
• W4307052016 hasConcept C48737797 @default.
• W4307052016 hasConcept C54355233 @default.
• W4307052016 hasConcept C60644358 @default.
• W4307052016 hasConcept C71924100 @default.
• W4307052016 hasConcept C7602840 @default.
• W4307052016 hasConcept C84597430 @default.
• W4307052016 hasConcept C86803240 @default.
• W4307052016 hasConceptScore W4307052016C104317684 @default.
• W4307052016 hasConceptScore W4307052016C120821319 @default.
• W4307052016 hasConceptScore W4307052016C141231307 @default.
• W4307052016 hasConceptScore W4307052016C142724271 @default.
• W4307052016 hasConceptScore W4307052016C2777910003 @default.
• W4307052016 hasConceptScore W4307052016C2779134260 @default.
• W4307052016 hasConceptScore W4307052016C2779483572 @default.
• W4307052016 hasConceptScore W4307052016C48737797 @default.
• W4307052016 hasConceptScore W4307052016C54355233 @default.
• W4307052016 hasConceptScore W4307052016C60644358 @default.
• W4307052016 hasConceptScore W4307052016C71924100 @default.

• next