Publications by authors named "Jacqueline Siciliano"
Acute myeloid leukemia (AML) is a type of blood cancer of the myeloid cell lineage. Obesity is characterized by an increase in body weight that results in excessive fat accumulation. Obesity has been associated with an increased incidence of many cancers, including blood cancers.
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- Huntington's disease (HD) is caused by a CAG repeat expansion and is part of a group of disorders linked to unstable short tandem repeats, highlighting the complexity of genetic influences on the disease.
- Research indicates that both overlapping and unique genetic modifiers affect clinical symptoms and somatic expansion in blood DNA, pointing to specific cell-type interactions in mismatch repair processes.
- The study identifies a 5'-UTR variant that causes somatic expansion without altering clinical HD, and a specific sequence change that accelerates motor symptom onset without increasing expansion, emphasizing potential therapeutic targets for managing HD.
Genome-wide association studies (GWASs) of Huntington disease (HD) have identified six DNA maintenance gene loci (among others) as modifiers and implicated a two step-mechanism of pathogenesis: somatic instability of the causative HTT CAG repeat with subsequent triggering of neuronal damage. The largest studies have been limited to HD individuals with a rater-estimated age at motor onset. To capitalize on the wealth of phenotypic data in several large HD natural history studies, we have performed algorithmic prediction by using common motor and cognitive measures to predict age at other disease landmarks as additional phenotypes for GWASs.
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