Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jtcvs.2015.03.043 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Transposable element exonization generates a reservoir of evolving and functional protein isoforms.
Cell
December 2024
Institut Curie, PSL University, Inserm U932, Immunity and Cancer, 75005 Paris, France. Electronic address:
Alternative splicing enhances protein diversity in different ways, including through exonization of transposable elements (TEs). Recent transcriptomic analyses identified thousands of unannotated spliced transcripts with exonizing TEs, but their contribution to the proteome and biological relevance remains unclear. Here, we use transcriptome assembly, ribosome profiling, and proteomics to describe a population of 1,227 unannotated TE exonizing isoforms generated by mRNA splicing and recurrent in human populations.
View Article and Find Full Text PDFBiallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.
Genet Med
November 2024
School of Health, University of the Sunshine Coast, Maroochydore, QLD, Australia; National PTSD Research Centre, Thompson Institute, Birtinya, QLD, Australia. Electronic address:
Article Synopsis
- This study identifies a new type of autosomal recessive intellectual disability linked to genetic variants in the GTF3C3 gene, which is essential for proper RNA polymerase III activity.
- Researchers employed various methods, including exome sequencing and Drosophila models, to analyze the effects of GTF3C3 variants found in twelve affected individuals from seven families.
- The results showed that the variants lead to significant functional losses in the gene, correlating with symptoms like intellectual disability, motor issues, seizures, and brain structure abnormalities.
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.
Am J Med Genet A
November 2024
Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Snijders Blok-Campeau syndrome (SNIBCPS, OMIM#618205) is an autosomal dominant neurodevelopmental disorder attributed to pathogenic variants in the chromodomain helicase DNA binding protein 3 (CHD3) gene. To date, more than 100 individuals have been diagnosed with SNIBCPS. The syndrome is characterized by intellectual disability, global developmental delay, speech or language impediments, and dysmorphic features associated with macrocephaly.
View Article and Find Full Text PDFUnexpected delivery: cryptic pregnancy.
BMJ Case Rep
November 2024
Department of Obstetrics and Gynaecology, Leighton Hospital, Mid Cheshire Hospitals NHS Foundation Trust, Middlewich Road, Crewe, CW1 4QJ, UK.
Cryptic pregnancy was first described in the early 17th century and occurs when the pregnant person is unaware of their pregnant state and discovers this late in pregnancy or when labour starts. Historically, the term 'concealed pregnancy' has been used synonymously. In a concealed pregnancy, the patient is aware of their pregnancy but chooses to hide it.
View Article and Find Full Text PDFRNA-First Approach Identifies Deep Intronic PHEX Variants in X-Linked Hypophosphatemic Rickets.
J Clin Endocrinol Metab
November 2024
Shriners Hospital for Children - Canada, Montreal, QC, Canada.
Article Synopsis
- * A study with four children diagnosed with XLH sought to find hidden variants in the PHEX gene that could lead to mis-splicing.
- * The results indicated that three of the four patients had PHEX mis-splicing, with specific deep intronic variants identified that contributed to their condition, suggesting that more detailed analysis could help uncover genetic causes in patients previously thought to lack identifiable mutations.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!