Publications by authors named "T R Leal"

During the gestational period, the pubic symphysis dilates for vaginal delivery. However, exacerbated widening may indicate ligament injury and pelvic instability, resulting in significant pain complaints. This uncommon condition is called peripartum pubic symphysis disjunction (PPSD).

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Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD.

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Article Synopsis
  • Researchers have advanced understanding of Parkinson's disease genetics through genome-wide association studies (GWAS) but have found that many genetic factors still contribute to its heritability, potentially due to interactions between variants (epistasis).
  • A new screening method, VARI3, was developed to investigate these interactions using data from numerous cohorts, successfully identifying notable variant interactions in genes like SNCA, MAPT, and WNT3.
  • The study demonstrated that these epistatic signals were present across different ethnic backgrounds, including European and Native American ancestries, and linked to important biological functions related to Parkinson's disease risk.
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Human neutrophil elastase (hNE), a serine protease released by neutrophils during inflammation, plays a major role in the pathophysiology of several conditions especially in inflammatory lung diseases. Its inhibition constitutes, therefore, a promising therapeutic strategy to combat these diseases. In this work, we characterized the in vitro properties of a VHH (i.

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Kirsten rat sarcoma viral oncogene homolog (KRAS) mutation is prognostic of poor survival for patients with non-small cell lung cancer (NSCLC). KRAS G12C mutations occur in 13% of NSCLC cases and despite the frequency of this mutation, advances in drug development against KRAS have historically been impeded due to the extremely high affinity of KRAS for guanosine triphosphate (GTP) and the lack of a binding pocket on the surface of KRAS that is suitable for drug binding. Sotorasib, a first-in-class, highly selective KRAS G12C inhibitor overcomes this issue by irreversibly binding in the switch-II pocket.

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