Browsing by Subject "gene dosage"
Now showing items 1-4 of 4
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Achilles, a new family of transcriptionally active retrotransposons from the olive fruit fly, with y chromosome preferential distribution
(2015)Sex chromosomes have many unusual features relative to autosomes. The in depth exploration of their structure will improve our understanding of their origin and divergence (degeneration) as well as the evolution of genetic ... -
Autoinflammatory syndromes with coexisting variants in Mediterranean FeVer and other genes: Utility of multiple gene screening and the possible impact of gene dosage
(2022)Objective: To assess the possible impact conferred by co-existing variants in MEditerranean FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype. Methods: Consecutive patients (n = 42) who ... -
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years
(2020)Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular ... -
Sad3 and Sad4 are required for saponin biosynthesis and root development in oat
(2008)Avenacins are antimicrobial triterpene glycosides that are produced by oat (Avena) roots. These compounds confer broad-spectrum resistance to soil pathogens. Avenacin A-1, the major avenacin produced by oats, is strongly ...