Matches in SemOpenAlex for { <https://semopenalex.org/work/W3112020439> ?p ?o ?g. }
- W3112020439 endingPage "1305" @default.
- W3112020439 startingPage "1295" @default.
- W3112020439 abstract "Genomic imprinting is a rare form of gene expression in mammals in which a small number of genes are expressed in a parent-of-origin-specific manner. The aetiology of human imprinting disorders is diverse and includes chromosomal abnormalities, mutations, and epigenetic dysregulation of imprinted genes. The most common human imprinting disorder is Beckwith-Wiedemann syndrome (BWS), frequently caused by uniparental isodisomy and DNA methylation alterations. Because these lesions cannot be easily engineered, induced pluripotent stem cells (iPSC) are a compelling alternative. Here, we describe the first iPSC model derived from patients with BWS. Due to the mosaic nature of BWS patients, both BWS and non-BWS iPSC lines were derived from the same patient’s fibroblasts. Importantly, we determine that DNA methylation and gene expression patterns of the imprinted region in the iPSC lines reflect the parental cells and are stable over time. Additionally, we demonstrate that differential expression in insulin signalling, cell proliferation, and cell cycle pathways was seen in hepatocyte lineages derived from BWS lines compared to controls. Thus, this cell based-model can be used to investigate the role of imprinting in the pathogenesis of BWS in disease-relevant cell types." @default.
- W3112020439 created "2020-12-21" @default.
- W3112020439 creator A5003906542 @default.
- W3112020439 creator A5030493517 @default.
- W3112020439 creator A5033201701 @default.
- W3112020439 creator A5044649294 @default.
- W3112020439 creator A5050138661 @default.
- W3112020439 creator A5054183608 @default.
- W3112020439 creator A5058980498 @default.
- W3112020439 creator A5075046653 @default.
- W3112020439 creator A5076822095 @default.
- W3112020439 creator A5081421941 @default.
- W3112020439 date "2020-12-29" @default.
- W3112020439 modified "2023-09-27" @default.
- W3112020439 title "Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome" @default.
- W3112020439 cites W1884223264 @default.
- W3112020439 cites W1916533195 @default.
- W3112020439 cites W1970239172 @default.
- W3112020439 cites W1982748372 @default.
- W3112020439 cites W1991059160 @default.
- W3112020439 cites W2016058404 @default.
- W3112020439 cites W2035121417 @default.
- W3112020439 cites W2038815755 @default.
- W3112020439 cites W2048052538 @default.
- W3112020439 cites W2085801952 @default.
- W3112020439 cites W2090897057 @default.
- W3112020439 cites W2100959085 @default.
- W3112020439 cites W2101984098 @default.
- W3112020439 cites W2102187103 @default.
- W3112020439 cites W2110053810 @default.
- W3112020439 cites W2111313109 @default.
- W3112020439 cites W2121539520 @default.
- W3112020439 cites W2123106337 @default.
- W3112020439 cites W2127639335 @default.
- W3112020439 cites W2129882885 @default.
- W3112020439 cites W2130410032 @default.
- W3112020439 cites W2134844149 @default.
- W3112020439 cites W2137658602 @default.
- W3112020439 cites W2143808146 @default.
- W3112020439 cites W2152627215 @default.
- W3112020439 cites W2156892326 @default.
- W3112020439 cites W2162904965 @default.
- W3112020439 cites W2177138952 @default.
- W3112020439 cites W2179438025 @default.
- W3112020439 cites W2220809577 @default.
- W3112020439 cites W2238750467 @default.
- W3112020439 cites W2254528831 @default.
- W3112020439 cites W2320732213 @default.
- W3112020439 cites W2345599021 @default.
- W3112020439 cites W2509722695 @default.
- W3112020439 cites W2519846458 @default.
- W3112020439 cites W2604964915 @default.
- W3112020439 cites W2605851705 @default.
- W3112020439 cites W2608755923 @default.
- W3112020439 cites W2786780539 @default.
- W3112020439 cites W2787911059 @default.
- W3112020439 cites W2900569176 @default.
- W3112020439 cites W2988595406 @default.
- W3112020439 cites W3001527192 @default.
- W3112020439 cites W3026484550 @default.
- W3112020439 doi "https://doi.org/10.1080/15592294.2020.1861172" @default.
- W3112020439 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33300436" @default.
- W3112020439 hasPublicationYear "2020" @default.
- W3112020439 type Work @default.
- W3112020439 sameAs 3112020439 @default.
- W3112020439 citedByCount "4" @default.
- W3112020439 countsByYear W31120204392021 @default.
- W3112020439 countsByYear W31120204392022 @default.
- W3112020439 crossrefType "journal-article" @default.
- W3112020439 hasAuthorship W3112020439A5003906542 @default.
- W3112020439 hasAuthorship W3112020439A5030493517 @default.
- W3112020439 hasAuthorship W3112020439A5033201701 @default.
- W3112020439 hasAuthorship W3112020439A5044649294 @default.
- W3112020439 hasAuthorship W3112020439A5050138661 @default.
- W3112020439 hasAuthorship W3112020439A5054183608 @default.
- W3112020439 hasAuthorship W3112020439A5058980498 @default.
- W3112020439 hasAuthorship W3112020439A5075046653 @default.
- W3112020439 hasAuthorship W3112020439A5076822095 @default.
- W3112020439 hasAuthorship W3112020439A5081421941 @default.
- W3112020439 hasBestOaLocation W31120204391 @default.
- W3112020439 hasConcept C104317684 @default.
- W3112020439 hasConcept C107459253 @default.
- W3112020439 hasConcept C145103041 @default.
- W3112020439 hasConcept C150194340 @default.
- W3112020439 hasConcept C190727270 @default.
- W3112020439 hasConcept C201492766 @default.
- W3112020439 hasConcept C2777575177 @default.
- W3112020439 hasConcept C2780332060 @default.
- W3112020439 hasConcept C30481170 @default.
- W3112020439 hasConcept C41091548 @default.
- W3112020439 hasConcept C53226629 @default.
- W3112020439 hasConcept C54355233 @default.
- W3112020439 hasConcept C86803240 @default.
- W3112020439 hasConcept C94715292 @default.
- W3112020439 hasConceptScore W3112020439C104317684 @default.
- W3112020439 hasConceptScore W3112020439C107459253 @default.
- W3112020439 hasConceptScore W3112020439C145103041 @default.
- W3112020439 hasConceptScore W3112020439C150194340 @default.