Publications by authors named "A Marchetto"
Article Synopsis
- - Fryns syndrome (FS) is a genetic disorder involving various malformations, including congenital diaphragmatic hernia and central nervous system abnormalities.
- - A study investigated a northern European family with two cases of FS: a boy who died at 2.5 months and a female fetus with similar developmental issues.
- - Genetic analysis identified two mutations affecting RNA splicing as the cause of FS in these patients, confirming the genetic basis of the syndrome.
Purpose: With the rise of medically assisted reproductive techniques (ART) the number of pregnancies complicated by gestational diabetes mellitus (GDM) has increased. The aim of this study was to evaluate retrospectively the outcomes of pregnancies complicated by GDM who conceive trough ART (cases) compared to those who conceived spontaneously (controls).
Methods: In 670 women with GDM, 229 cases and 441 controls, followed by the Diabetology of Padua, between 2010-2022, clinical-metabolic maternal characteristics and maternal-foetal outcomes were evaluated.
Article Synopsis
- Coarse-grained (CG) modelling using the Martini force field has advanced significantly, allowing accurate simulations of large biomolecular structures over millisecond timescales.
- The updated Martini 3 model has potential applications in drug discovery, particularly in drug design and delivery, due to its efficiency and ability to explore a wide range of chemical scenarios.
- However, improvements are needed in areas like automatic parameterization, protein flexibility representation, and better sampling methods before it can be widely adopted in research and industry.
With approximately 400 encoding genes in humans, odorant receptors (ORs) are the largest subfamily of class A G protein-coupled receptors (GPCRs). Despite its high relevance and representation, the odorant-GPCRome is structurally poorly characterized: no experimental structures are available, and the low sequence identity of ORs to experimentally solved GPCRs is a significant challenge for their modeling. Moreover, the receptive range of most ORs is unknown.
View Article and Find Full Text PDFEwing sarcoma (EwS) is characterized by EWSR1-ETS fusion transcription factors converting polymorphic GGAA microsatellites (mSats) into potent neo-enhancers. Although the paucity of additional mutations makes EwS a genuine model to study principles of cooperation between dominant fusion oncogenes and neo-enhancers, this is impeded by the limited number of well-characterized models. Here we present the Ewing Sarcoma Cell Line Atlas (ESCLA), comprising whole-genome, DNA methylation, transcriptome, proteome, and chromatin immunoprecipitation sequencing (ChIP-seq) data of 18 cell lines with inducible EWSR1-ETS knockdown.
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