Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of human genetics"
DOI: 10.1038/s10038-022-01035-y
Abstract: Duchenne muscular dystrophy (DMD, MIM #310200) and Becker muscular dystrophy (BMD, MIM #300376) are X-linked recessive hereditary diseases caused by pathogenic variants in the DMD gene. Genetic testing of DMD identifies a certain number of… read more here.
Keywords: variants dmd; dmd gene; dmd; exon intron ... See more keywords
Modeling microRNA-driven post-transcriptional regulation using exon-intron split analysis in pigs.
Sign Up to like & getrecommendations! Published in 2022 at "Animal genetics"
DOI: 10.1111/age.13238
Abstract: The contribution of microRNAs (miRNAs) to mRNA post-transcriptional regulation has often been explored by the post hoc selection of downregulated genes and determining whether they harbor binding sites for miRNAs of interest. This approach, however,… read more here.
Keywords: intron split; split analysis; exon intron; regulation ... See more keywords
Clinical and Functional Significance of TP53 Exon 4–Intron 4 Splice Junction Variants
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DOI: 10.1158/1541-7786.mcr-21-0583
Abstract: Germline TP53 splicing variants are uncommon, and their clinical relevance is unknown. However, splice-altering variants at exon 4–intron 4 junctions are relatively enriched in pediatric adrenocortical tumors (ACT). Nevertheless, family histories of cancer compatible with… read more here.
Keywords: cancer; exon intron; tp53; tp53 exon ... See more keywords
Divergences of the RLR Gene Families across Lophotrochozoans: Domain Grafting, Exon–Intron Structure, Expression, and Positive Selection
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23073415
Abstract: Invertebrates do not possess adaptive immunity but have evolved a variety of unique repertoires of innate immune sensors. In this study, we explored the immune diversity and specificity of invertebrates based on the lophotrochozoan RLRs,… read more here.
Keywords: rlrs; grafting exon; exon intron; lophotrochozoan rlrs ... See more keywords