WDR45 is located on the X chromosome. Its pathogenic variants are associated with various neurodegenerative disorders that are predominantly reported in females and present a wide range of clinical phenotypes, from early-onset developmental delay to neurodegeneration and multiple epileptic syndromes.
Orofacial clefting is a common birth defect that affects 1 in 700 newborns, and includes cleft lip, cleft palate and cleft lip and palate, with a strong genetic component, thus being highly heritable. Researchers have identified new gene variants tied to orofacial clefting.
Primary aldosteronism (PA), caused by bilateral adrenal hyperplasia or aldosteronomas, is the leading cause of endocrine hypertension, with an estimated prevalence of 10%-20% in patients in tertiary hospitals.
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 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.”
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.
RSS
