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RECQL4 affects MHC class II-mediated signalling and favours an immune-evasive signature that limits response to immune checkpoint inhibitor therapy in patients with malignant melanoma.
Clin Transl Med
January 2025
Department of Dermatology and Allergy, University Hospital of Munich, Ludwig-Maximilian-University, Munich, Germany.
Background: Cancer immunotherapy has transformed metastatic cancer treatment, yet challenges persist regarding therapeutic efficacy. RECQL4, a RecQ-like helicase, plays a central role in DNA replication and repair as part of the DNA damage response, a pathway implicated in enhancing efficacy of immune checkpoint inhibitor (ICI) therapies. However, its role in patient response to ICI remains unclear.
View Article and Find Full Text PDFTrichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
View Article and Find Full Text PDFRoles of NOC3L and DDX17 in acquired immunodeficiency complicated with viral myocarditis and osteoporosis.
Medicine (Baltimore)
November 2024
Department of Orthopaedics, Beijing Ditan Hospital Affiliated to Capital Medical University, Chaoyang District, Beijing, China.
Acquired immunodeficiency syndrome is a systemic infectious disease caused by human immunodeficiency virus infection, which could attack the bones and heart. However, the relationship between Nuclear Complex Associated 3 Homolog (NOC3L) and DEAD box helicase 17 (DDX17) and acquired immunodeficiency complicated with viral myocarditis and osteoporosis is unclear. The acquired immune deficiency dataset GSE140713, GSE147162 and the osteoporosis dataset (GSE230665), and viral myocarditis dataset (GSE150392) configuration files were generated from gene expression omnibus.
View Article and Find Full Text PDF40S ribosomal subunits scan mRNA for the start codon by one-dimensional diffusion.
bioRxiv
January 2025
Department of Biochemistry & Biophysics at the School of Medicine and Dentistry & Center for RNA Biology, University of Rochester, Rochester, NY, USA.
During eukaryotic translation initiation, the small (40S) ribosomal subunit is recruited to the 5' cap and subsequently scans the 5' untranslated region (5' UTR) of mRNA in search of the start codon. The molecular mechanism of mRNA scanning remains unclear. Here, using GFP reporters in cells, we show that order-of-magnitude variations in the lengths of unstructured 5' UTRs have a modest effect on protein synthesis.
View Article and Find Full Text PDFPost-transcriptional cross- and auto-regulation buffer expression of the human RNA helicases and .
Genome Res
January 2025
Whitehead Institute, Cambridge, Massachusetts 02142, USA;
The Y-linked gene and its X-linked homolog survived the evolution of the human sex chromosomes from ordinary autosomes. encodes a multifunctional RNA helicase, with mutations causing developmental disorders and cancers. We find that, among X-linked genes with surviving Y homologs, is extraordinarily dosage sensitive.
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