Angiotensin-converting-enzyme gene insertion-deletion polymorphism and renin angiotensin aldosterone system activity in different phenotypes of polycystic ovary syndrome.

Unlabelled: Polycystic ovary syndrome (PCOS) is a common condition. Its pathophysiology involves an interaction between genetic and environmental factors, resulting in different reproductive and metabolic subtypes. Genetic variation in the angiotensin converting enzyme (ACE) gene has been implicated in the pathophysiology of the syndrome.

Molecular methods for colorectal cancer screening: Progress with next-generation sequencing evolution.

Currently, colorectal cancer (CRC) represents the third most common malignancy and the second most deadly cancer worldwide, with a higher incidence in developed countries. Like other solid tumors, CRC is a heterogeneous genomic disease in which various alterations, such as point mutations, genomic rearrangements, gene fusions or chromosomal copy number alterations, can contribute to the disease development. However, because of its orderly natural history, easily accessible onset location and high lifetime incidence, CRC is ideally suited for preventive intervention, but the many screening efforts of the last decades have been compromised by performance limitations and low penetrance of the standard screening tools.

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.

17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) converts Δ4-androstene-3,17-dione (androstenedione) to testosterone. It is expressed almost exclusively in the testes and is essential for appropriate male sexual development. More than 70 mutations in the HSD17B3 gene that cause 17β-HSD3 deficiency and result in 46,XY Disorders of Sex Development (46,XY DSD) have been reported.

Virulence Factors in Colorectal Cancer Metagenomes and Association of Microbial Siderophores with Advanced Stages.

Colorectal cancer (CRC) is a growing public health challenge, featuring a multifactorial etiology and complex host-environment interactions. Recently, increasing evidence has pointed to the role of the gut microbiota in CRC development and progression. To explore the role of gut microbes in CRC, we retrieved metagenomic data from 156 stools from the European Nucleotide Archive database and mapped them against the VFDB database for virulence factors (VFs).