Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Cell Death Discovery"
DOI: 10.1038/s41420-021-00414-2
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… read more here.
Keywords: lange syndrome; lithium; lithium possible; cdls ... See more keywords
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
Sign Up to like & getrecommendations! Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-021-24808-z
Abstract: Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients.… read more here.
Keywords: genome wide; lange syndrome; cohesin; nipbl scc2 ... See more keywords
Distinguishing reference intervals and clinical decision limits – A review by the IFCC Committee on Reference Intervals and Decision Limits
Sign Up to like & getrecommendations! Published in 2018 at "Critical Reviews in Clinical Laboratory Sciences"
DOI: 10.1080/10408363.2018.1482256
Abstract: Abstract Reference Intervals (RIs) and clinical decision limits (CDLs) are a vital part of the information supplied by laboratories to support the interpretation of numerical clinical pathology results. RIs describe the typical distribution of results… read more here.
Keywords: medicine; decision limits; reference intervals; reference ... See more keywords
The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Epigenetics"
DOI: 10.1186/s13148-017-0391-x
Abstract: BackgroundCornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like (NIPBL), the human homolog of Drosophila Nipped-B. NIPBL loads cohesin onto chromatin. Cohesin mediates sister chromatid cohesion… read more here.
Keywords: cohesin; expression; gene; nipbl haploinsufficiency ... See more keywords
BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2021.709232
Abstract: Cornelia de Lange Syndrome (CdLS) is a human developmental syndrome with complex multisystem phenotypic features. It has been traditionally considered a cohesinopathy together with other phenotypically related diseases because of their association with mutations in… read more here.
Keywords: lange syndrome; cohesin complex; function; cdls ... See more keywords
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14010119
Abstract: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects many organs. The diagnosis of this condition is primarily clinical and it can be confirmed by molecular analysis of the genes known to… read more here.
Keywords: lange syndrome; report; analysis; type ... See more keywords