Complex genomic rearrangements (CGRs) involve large-scale genomic alterations with multiple breakpoints and are implicated in genetic diseases such as malformation syndromes, intellectual disability and neurodevelopmental disorders.
Researchers from Nanjing First Hospital reported that glutamine-fructose-6-phosphate transaminase 2 (GFPT2) may be considered a diagnostic and prognostic marker of mesothelioma.
Recent evidence has suggested CDGSH iron-sulfur domain-containing protein 3 (CISD3) plays a tumorigenic role and is a key member in mitochondrial functioning. Additionally, the methylation changes surrounding the CISD3 gene plus its expression patterns in several cancer types suggest its potential as a biomarker and therapeutic target.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by biallelic genetic variants in the AIRE gene, encoding autoimmune regulator protein.
Research into the regulation of gene expression experienced a significant breakthrough with the discovery of microRNA, small RNA molecules that do not code for proteins but control their translation. This finding has earned its authors Victor Ambros and Gary Ruvkun the 2024 Nobel Prize in Physiology or Medicine.
Research into the regulation of gene expression experienced a significant breakthrough with the discovery of microRNA, small RNA molecules that do not code for proteins but control their translation. This finding has earned its discoverers – Victor Ambros and Gary Ruvkun – the 2024 Nobel Prize in Physiology or Medicine “for the discovery of microRNA and its role in post-transcriptional gene regulation.”
Italian researchers have presented a case study of pediatric advanced sleep-wake phase syndrome in a 4-year-old girl. Autosomal dominant forms of this syndrome due to loss-of-function mutations in the gene coding casein kinase I isoform delta (CSNK1D) have previously been described.
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