Publications by authors named "Sheila J Upton"
Article Synopsis
- Uniparental disomy (UPD) involves the inheritance of both copies of a chromosome from one parent, which can lead to abnormal gene expression and various health issues depending on whether the chromosome is from the mother or father.
- UPD(14)pat is associated with severe features like skeletal anomalies and poor survival due to overexpression of the paternally expressed gene RTL1, while UPD(14)mat presents milder symptoms like growth failure because of the absence of the paternally expressed DLK1 gene.
- Recent studies involving six individuals with variations in the imprinted 14q32 region suggest that different gene deletions and duplications can result in UPD-like phenotypes, emphasizing the importance of gene dosage in
Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies integrating genome-wide CNV mapping and sequencing is rapidly expanding the molecular field of pediatric neurodevelopmental disorders. In a previous study, a novel epilepsy locus was identified on 6q16.
View Article and Find Full Text PDF