Nelson Martins
A5101532524- Cytomegalovirus and herpesvirus research
- Advanced biosensing and bioanalysis techniques
- Cancer-related gene regulation
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- RNA regulation and disease
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2023
IPO Porto
2023
Universidade do Porto
2023
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
Abstract Background Germline CDH1 pathogenic or likely variants cause hereditary diffuse gastric cancer (HDGC). Once a genetic is identified, stomachs’ and breasts’ surveillance and/or prophylactic surgery offered to asymptomatic carriers, which life-saving. Herein, we characterized an inherited mechanism responsible for extremely early-onset atypical HDGC high penetrance. Methods Whole-exome sequencing (WES) re-analysis was performed in unsolved family. Accessible chromatin promoter...