Publications by authors named "Rebeca Antonanzas-Perez"
Article Synopsis
- * The research reveals that somatic damaging NIPBL variants are often negatively selected in blood, and indicates a notable 13.1% prevalence of mosaicism among patients with a confirmed molecular diagnosis of CdLS.
- * Most patients with mosaicism exhibit severe symptoms similar to those with stable (constitutive) pathogenic variants, but the types of genetic mutations remain consistent across both types, emphasizing the need for improved clinical management and genetic counseling for affected families.
Article Synopsis
- Cornelia de Lange syndrome (CdLS) is challenging to diagnose due to its recognizable facial features and genetic diversity among affected individuals.
- A study involving 49 patients with CdLS identified that the DeepGestalt technology and Face2Gene app effectively predicted CdLS as the top syndrome in 97.9% of cases.
- The research suggests that using deep learning for image analysis can enhance diagnostic accuracy and potentially help differentiate between genetic subtypes of CdLS.
There are three human enzymes with HMG-CoA lyase activity that are able to synthesize ketone bodies in different subcellular compartments. The mitochondrial HMG-CoA lyase was the first to be described, and catalyzes the cleavage of 3-hydroxy-3-methylglutaryl CoA to acetoacetate and acetyl-CoA, the common final step in ketogenesis and leucine catabolism. This protein is mainly expressed in the liver and its function is metabolic, since it produces ketone bodies as energetic fuels when glucose levels are low.
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