Publications by authors named "Patricia Baeza-Capetillo"
Article Synopsis
- G6PC3 deficiency leads to severe congenital neutropenia, recurrent infections, and various physical malformations due to issues with glucose processing and increased cellular stress.
- A review of patients diagnosed with this condition in Mexico and a search of recent literature found 94 cases reported globally, with notable syndromic features such as atrial septal defects and prominent veins.
- The findings aim to improve understanding of the genetic and clinical characteristics of G6PC3 deficiency, aiding in better treatment approaches and outcomes.
Background: Ectodermal dysplasias are a group of genodermatoses characterized by dystrophy of ectodermal derived structures. The most frequent presentation of the ectodermal dysplasias is the hypohidrotic type, which has an incidence of 7/100,000 newborns and has been described in all ethnic groups. The hypohidrotic ectodermal dysplasia (HED) has different etiologies, and it is more frequently associated with an X-linked pattern of inheritance caused by pathogenic variants of the EDA gene in Xq13.
View Article and Find Full Text PDFBackground: MicroRNAs (miRNAs) modulate gene expression through destabilization or translational inhibition of cytoplasmic transcripts or by transcriptional regulation through binding to genomic DNA. Although miRNAs are globally down-regulated in cancer, some are overexpressed in neoplastic tissues, playing key roles in tumorigenesis (oncomiRs), sometimes behaving as effective cancer markers.
Methods: Using total RNA from human uterus adenocarcinoma and non-neoplastic uterus, we conducted a small RNA-sequencing experiment followed by prediction of novel miRNAs using MirDeep* software.