Matches in SemOpenAlex for { <https://semopenalex.org/work/W3133330217> ?p ?o ?g. }
- W3133330217 abstract "Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder affecting a multitude of organs including the central nervous system, inducing a variable neurodevelopmental delay. CdLS malformations derive from the deregulation of developmental pathways, inclusive of the canonical WNT pathway. We have evaluated MRI anomalies and behavioral and neurological clinical manifestations in CdLS patients. Importantly, we observed in our cohort a significant association between behavioral disturbance and structural abnormalities in brain structures of hindbrain embryonic origin. Considering the cumulative evidence on the cohesin-WNT-hindbrain shaping cascade, we have explored possible ameliorative effects of chemical activation of the canonical WNT pathway with lithium chloride in different models: (I) Drosophila melanogaster CdLS model showing a significant rescue of mushroom bodies morphology in the adult flies; (II) mouse neural stem cells restoring physiological levels in proliferation rate and differentiation capabilities toward the neuronal lineage; (III) lymphoblastoid cell lines from CdLS patients and healthy donors restoring cellular proliferation rate and inducing the expression of CyclinD1. This work supports a role for WNT-pathway regulation of CdLS brain and behavioral abnormalities and a consistent phenotype rescue by lithium in experimental models." @default.
- W3133330217 created "2021-03-01" @default.
- W3133330217 creator A5013979434 @default.
- W3133330217 creator A5016891295 @default.
- W3133330217 creator A5023280950 @default.
- W3133330217 creator A5031862404 @default.
- W3133330217 creator A5039390562 @default.
- W3133330217 creator A5048252980 @default.
- W3133330217 creator A5049195533 @default.
- W3133330217 creator A5049427286 @default.
- W3133330217 creator A5065328643 @default.
- W3133330217 creator A5067796185 @default.
- W3133330217 creator A5069360704 @default.
- W3133330217 creator A5069765619 @default.
- W3133330217 creator A5081869284 @default.
- W3133330217 creator A5083113241 @default.
- W3133330217 creator A5084567168 @default.
- W3133330217 creator A5086461219 @default.
- W3133330217 creator A5089564913 @default.
- W3133330217 date "2021-02-17" @default.
- W3133330217 modified "2023-10-09" @default.
- W3133330217 title "Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome" @default.
- W3133330217 cites W1496827079 @default.
- W3133330217 cites W1526227860 @default.
- W3133330217 cites W1851767649 @default.
- W3133330217 cites W1969735954 @default.
- W3133330217 cites W1973066931 @default.
- W3133330217 cites W1978809889 @default.
- W3133330217 cites W1979993283 @default.
- W3133330217 cites W1980639342 @default.
- W3133330217 cites W1982469223 @default.
- W3133330217 cites W1994928797 @default.
- W3133330217 cites W2001704867 @default.
- W3133330217 cites W2022114258 @default.
- W3133330217 cites W2033502482 @default.
- W3133330217 cites W2037362970 @default.
- W3133330217 cites W2038833190 @default.
- W3133330217 cites W2041935553 @default.
- W3133330217 cites W2048675800 @default.
- W3133330217 cites W2051788298 @default.
- W3133330217 cites W2058851119 @default.
- W3133330217 cites W2070810538 @default.
- W3133330217 cites W2085938114 @default.
- W3133330217 cites W2086773100 @default.
- W3133330217 cites W2092535419 @default.
- W3133330217 cites W2109222401 @default.
- W3133330217 cites W2111320259 @default.
- W3133330217 cites W2112162638 @default.
- W3133330217 cites W2117394396 @default.
- W3133330217 cites W2121372493 @default.
- W3133330217 cites W2123988817 @default.
- W3133330217 cites W2126486896 @default.
- W3133330217 cites W2133627256 @default.
- W3133330217 cites W2143691429 @default.
- W3133330217 cites W2151343721 @default.
- W3133330217 cites W2155769759 @default.
- W3133330217 cites W2163605769 @default.
- W3133330217 cites W2166496008 @default.
- W3133330217 cites W2167000056 @default.
- W3133330217 cites W2175853567 @default.
- W3133330217 cites W2217334246 @default.
- W3133330217 cites W2217535290 @default.
- W3133330217 cites W2253424750 @default.
- W3133330217 cites W2324784379 @default.
- W3133330217 cites W2347023177 @default.
- W3133330217 cites W2377112222 @default.
- W3133330217 cites W2413989427 @default.
- W3133330217 cites W2519067248 @default.
- W3133330217 cites W2606268538 @default.
- W3133330217 cites W2616843246 @default.
- W3133330217 cites W2765101714 @default.
- W3133330217 cites W2768919864 @default.
- W3133330217 cites W2770052641 @default.
- W3133330217 cites W2792892219 @default.
- W3133330217 cites W2800750075 @default.
- W3133330217 cites W2807496867 @default.
- W3133330217 cites W2867518480 @default.
- W3133330217 cites W2871213110 @default.
- W3133330217 cites W2892278758 @default.
- W3133330217 cites W2978609424 @default.
- W3133330217 cites W3023733809 @default.
- W3133330217 cites W4254395944 @default.
- W3133330217 doi "https://doi.org/10.1038/s41420-021-00414-2" @default.
- W3133330217 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7889653" @default.
- W3133330217 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33597506" @default.
- W3133330217 hasPublicationYear "2021" @default.
- W3133330217 type Work @default.
- W3133330217 sameAs 3133330217 @default.
- W3133330217 citedByCount "9" @default.
- W3133330217 countsByYear W31333302172021 @default.
- W3133330217 countsByYear W31333302172022 @default.
- W3133330217 countsByYear W31333302172023 @default.
- W3133330217 crossrefType "journal-article" @default.
- W3133330217 hasAuthorship W3133330217A5013979434 @default.
- W3133330217 hasAuthorship W3133330217A5016891295 @default.
- W3133330217 hasAuthorship W3133330217A5023280950 @default.
- W3133330217 hasAuthorship W3133330217A5031862404 @default.
- W3133330217 hasAuthorship W3133330217A5039390562 @default.
- W3133330217 hasAuthorship W3133330217A5048252980 @default.
- W3133330217 hasAuthorship W3133330217A5049195533 @default.