Publications by authors named "J Demengeot"
Article Synopsis
- This study investigates the link between whole exome sequencing (WES) data and clinical features in children diagnosed with type 1 diabetes before age 5, analyzing 99 unrelated cases.
- Of the participants, 8.1% had potentially harmful rare variants in MODY genes, which were associated with specific genetic risk factors and different clinical markers compared to those without these variants.
- The findings suggest that WES may help identify distinct subtypes (endotypes) of type 1 diabetes and pave the way for tailored treatments in young patients.
Regulatory T (TREG) cells develop via a program orchestrated by the transcription factor forkhead box protein P3 (FOXP3). Maintenance of the TREG cell lineage relies on sustained FOXP3 transcription via a mechanism involving demethylation of cytosine-phosphate-guanine (CpG)-rich elements at conserved non-coding sequences (CNS) in the FOXP3 locus. This cytosine demethylation is catalyzed by the ten-eleven translocation (TET) family of dioxygenases, and it involves a redox reaction that uses iron (Fe) as an essential cofactor.
View Article and Find Full Text PDFIntroduction: Early-onset Type 1 diabetes (EOT1D) is considered a disease subtype with distinctive immunological and clinical features. While both Human Leukocyte Antigen (HLA) and non-HLA variants contribute to age at T1D diagnosis, detailed analyses of EOT1D-specific genetic determinants are still lacking. This study scrutinized the involvement of the HLA class II locus in EOT1D genetic control.
View Article and Find Full Text PDFBackground: Infection due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is associated with clinical features of diverse severity. Few studies investigated the severity and mortality predictors of coronavirus disease 2019 (COVID-19) in Africa. Herein, we investigated the clinical features of severity and mortality among COVID-19 patients in Luanda, Angola.
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