Publications by authors named "R Milanesi"
Article Synopsis
- Scrapie is a brain disease affecting sheep and goats, linked to the prion protein gene (PRNP), which determines animals' susceptibility to the disease.
- At a European level, disease surveillance is critical, with specific gene variations (K222, D/S146) identified as potential resistance factors for controlling scrapie.
- In a study of 956 goats in Italy's Lombardy region, researchers found genetic variations within the PRNP gene that could influence susceptibility to scrapie, discovering ten distinct haplotypes and highlighting the need for genetic management in disease prevention.
Plastics have become an indispensable material in many fields of human activities, with production increasing every year; however, most of the plastic waste is still incinerated or landfilled, and only 10% of the new plastic is recycled even once. Among all plastics, polyethylene terephthalate (PET) is the most produced polyester worldwide; ethylene glycol (EG) is one of the two monomers released by the biorecycling of PET. While most research focuses on bacterial EG metabolism, this work reports the ability of Saccharomyces cerevisiae and nine other common laboratory yeast species not only to consume EG, but also to produce glycolic acid (GA) as the main by-product.
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- Copy Number Variants (CNVs) are genetic modifications in DNA that can involve large duplications or deletions of base pairs, affecting traits and showing genetic diversity related to environmental adaptation.
- The study analyzed over 4,000 Holstein cows using the GGP bovine 100K SNP chip to detect CNVs, revealing 123,814 CNVs grouped into 1,397 CNV regions (CNVRs).
- The findings indicated variability among the cows and highlighted the potential of CNVs to enhance genomic predictions for traits like milk production and quality, providing unique insights specific to the Holstein breed compared to Jersey and Brown breeds.
Caveolae constitute membrane microdomains where receptors and ion channels functionally interact. Caveolin-3 (cav-3) is the key structural component of muscular caveolae. Mutations in lead to caveolinopathies, which result in both muscular dystrophies and cardiac diseases.
View Article and Find Full Text PDFMissense variants of hyperpolarization-activated, cyclic nucleotide-gated (HCN) ion channels cause variable phenotypes, ranging from mild generalized epilepsy to developmental and epileptic encephalopathy (DEE). Although variants of HCN1 are an established cause of DEE, those of HCN2 have been reported in generalized epilepsies. Here we describe the first case of DEE caused by the novel de novo heterozygous missense variant c.
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