p53 codon 72 polymorphism in Italian women have a minor role in determining genetic susceptibility to endometriosis. The racial differences, in association with other risk factors, might be underlined in endometriotic disease.
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A Genetic Make Up of Italian Lipizzan Horse Through Uniparental Markers to Preserve Historical Pedigrees.
Biology (Basel)
December 2024
Consiglio per la Ricerca in Agricoltura e l'Analisi dell'Economia Agraria (CREA), Research Centre for Animal Production and Aquaculture, Via Salaria 31, 00015 Monterotondo, Italy.
Lipizzan is a famous horse breed dating back to 1580 when the original stud of Lipica was established by the Hasburg Archduke Charles II. Currently, the Italian State Stud of Lipizzan Horses (ASCAL) is a conservation nucleus managed through strict mating rules where mitochondrial DNA sequences are used to verify the correct assignment of mares to a historical pedigree maternal lineage. Here, we analyzed the D-loop sequences of Lipizzan horses from the ASCAL in Monterotondo (Rome, Italy) in order to confirm their pedigree assignment to known female founder families.
View Article and Find Full Text PDFReduced Intra- and Extracellular Circulating Postprandial Lysosomal Acid Lipase Activity in Patients with MASLD.
Metabolites
December 2024
Department of Translational and Precision Medicine, Sapienza University of Rome, 00185 Rome, Italy.
Background/objectives: Low fasting blood lysosomal acid lipase (LAL) activity is associated with the pathogenesis of metabolic hepatic steatosis. We measured LAL activity in blood and plasma before and after an oral fat tolerance test (OFTT) in patients with metabolic-dysfunction-associated steatotic liver disease (MASLD).
Methods: Twenty-six controls and seventeen patients with MASLD but without diabetes were genotyped for the patatin-like phospholipase 3 (PNPLA3) rs738409 variant by RT-PCR and subjected to an OFTT, measuring LAL activity in blood and plasma with a fluorimetric method.
Comparative analyses of three grapevine Pinot gris virus cDNA clones reveal insights into the pathological properties of different phylogroups.
Virology
December 2024
Department of Molecular and Cellular Biology, University of Guelph, Guelph, Ontario, Canada. Electronic address:
Grapevine Pinot gris virus (GPGV) is an emerging grapevine virus associated with grapevine leaf mottling and deformation (GLMD) disease. Being a recently identified virus, the molecular biology, pathological properties, and etiological complexity of GPGV remain poorly studied. Previous research revealed that GPGV comprises genetically different variants, some encoding a larger movement protein (MP) and others a shorter MP due to a C/T polymorphic site in ORF2 encoding MP.
View Article and Find Full Text PDFSex-Specific HLA Alleles Contribute to the Modulation of COVID-19 Severity.
Int J Mol Sci
December 2024
Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, 00168 Rome, Italy.
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection, responsible for Coronavirus Disease 2019 (COVID-19), exhibits a spectrum of clinical manifestations, ranging from asymptomatic to severe pulmonary dysfunction or death. The variability in COVID-19 severity has largely been attributed to the host's genetic characteristics, suggesting a polygenic genetic architecture, without significant strong evidence of sex-related genetic differences. In this Italian retrospective case-control study, we investigated the association between COVID-19 severity (severe vs.
View Article and Find Full Text PDFThe melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families.
J Ovarian Res
December 2024
Department of Public Health Sciences, Penn State College of Medicine, Hershey, PA, 17033, USA.
Article Synopsis
- - Polycystic ovary syndrome (PCOS) is a common hormonal disorder in women, influenced by genetic and environmental factors, especially connected to the hypothalamic-pituitary-adrenal (HPA) axis genes.
- - A study investigated various single nucleotide polymorphisms (SNPs) in five melanocortin receptor genes within 212 Italian families with PCOS, finding significant associations with certain SNPs in MC1R, MC2R, MC3R, and MC5R.
- - This research highlights the role of specific melanocortin receptor genes in PCOS, marking a new connection, while emphasizing the need for further functional studies to confirm these findings.
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