Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients' sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population comprised a large cohort of 3723 HD patients from the European Huntington's Disease Network's REGISTRY database collected at 160 sites across 17 European countries and in one location outside Europe.
View Article and Find Full Text PDFHerein, we report the high apparent piezoelectric coefficient for chitosan-poly(3-hydroxybutyrate) (CS-PHB) blend films. The structure of chitosan-poly(3-hydroxybutyrate) (CS-PHB) blend films, exploiting characteristics such as dielectric, polarization, apparent piezoelectric properties, and their dependencies on the composition, were investigated. Based on the results of XRD, SEM, FTIR, PFM, and dielectric spectroscopy measurements, the structure of CS-PHB blend films has been proposed, which consists of spheric-like inclusion formed by precipitating isotactic-PHB interface layer, which consists of syndiotactic-PHB hydrogen bonding with CS, and CS matrix.
View Article and Find Full Text PDFDamselfishes (family Pomacentridae) comprise approximately 400 species that play an important ecological role in temperate and coral reefs. Here, for the first time, we assemble and annotate the mitochondrial genome of , the three-spot dascyllus, a planktivorous damselfish that primarily recruits in anemones. The circular genome of is 16,967 bp in length and contains 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes, and a control region.
View Article and Find Full Text PDFThe aim of this study was to determine the suitability of the comparative genomic hybridization to microarray (aCGH) technique for prenatal diagnosis, but also to assess the frequency of chromosomal aberrations that may lead to fetal malformations but are not included in the diagnostic report. We present the results of the aCGH in a cohort of 7400 prenatal cases, indicated for invasive testing due to ultrasound abnormalities, high-risk for serum screening, thickened nuchal translucency, family history of genetic abnormalities or congenital abnormalities, and advanced maternal age (AMA). The overall chromosomal aberration detection rate was 27.
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