Purpose: To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province.
Methods: PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software.
Results: A CGC>TGC(r.279c-->t) transversion of IRF6 was identified in condon 6, showing complete segregation with the disease phenotypes and was resulting in changes of the secondary constructure of IRF6.
Conclusion: VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Development of a prognostic gene signature and exploration of P4HA1 in the modulation of cuproptosis in colorectal cancer.
Sci Rep
December 2024
School of Pharmacy, Jiangxi Medical College, Nanchang University, Nanchang, 330006, People's Republic of China.
Cuproptosis, a newly identified form of cell death, has drawn increasing attention for its association with various cancers, though its specific role in colorectal cancer (CRC) remains unclear. In this study, transcriptomic and clinical data from CRC patients available in the TCGA database were analyzed to investigate the impact of cuproptosis. Differentially expressed genes linked to cuproptosis were identified using Weighted Gene Co-Expression Network Analysis (WGCNA).
View Article and Find Full Text PDFRefining minimal engineered receptors for specific activation of on-target signaling molecules.
Sci Rep
December 2024
Laboratory of Cell Vaccine, Microbial Research Center for Health and Medicine (MRCHM), National Institutes of Biomedical Innovation, Health and Nutrition (NIBIOHN), 7-6-8 Saito-Asagi, Ibaraki-Shi, Osaka, 567-0085, Japan.
Since designer cells are attracting much attention as a new modality in gene and cell therapy, it would be advantageous to develop synthetic receptors that recognize artificial ligands and activate solely signaling molecules of interest. In this study, we refined the construction of our previously developed minimal engineered receptors (MERs) to avoid off-target activation of STAT5 while maintaining on-target activation of signaling molecules corresponding to tyrosine motifs. Among the myristoylated, cytoplasmic, and transmembrane types of MERs, the cytoplasmic type had the highest signaling efficiency, although there was off-target activation of STAT5 upon ligand stimulation.
View Article and Find Full Text PDFApplication of rapid genotyping of Warfarin individualized pharmacogenetic variants in Warfarin therapy.
Sci Rep
December 2024
Laboratory Medicine, First Affiliated Hospital of Gannan Medical University, Ganzhou, 341000, China.
Warfarin is the most widely used oral anticoagulant in clinical practice. The cytochrome P450 2C9 (CYP2C9), vitamin K epoxide reductase complex 1 (VKORC1), and cytochrome P450 4F2 (CYP4F2) genotypes are associated with warfarin dose requirements in China. Accurate genotyping is vital for obtaining reliable genotype-guided warfarin dosing information.
View Article and Find Full Text PDFMultimodal cadmium resistance and its regulatory networking in Pseudomonas aeruginosa strain CD3.
Sci Rep
December 2024
OMICS Laboratory, Department of Biotechnology, University of North Bengal, Siliguri, West Bengal, 734013, India.
Cadmium, a toxic heavy metal, poses significant global concern. A strain of the genus Pseudomonas, CD3, demonstrating significant cadmium resistance (up to 3 mM CdCl.HO) was identified from a pool of 26 cadmium-resistant bacteria isolated from cadmium-contaminated soil samples from Malda, India.
View Article and Find Full Text PDFA new type III effector from Bradyrhizobium sp. DOA9 encoding a putative SUMO-protease blocks nodulation in Arachis hypogaea L.
Sci Rep
December 2024
School of Biotechnology, Institute of Agricultural Technology, Suranaree University of Technology, Nakhon Ratchasima, 30000, Thailand.
Effector proteins secreted via the type III secretion system (T3SS) of nitrogen-fixing rhizobia are key determinants of symbiotic compatibility in legumes. Previous report revealed that the T3SS of Bradyrhizobium sp. DOA9 plays negative effects on Arachis hypogaea symbiosis.
View Article and Find Full Text PDFWant 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!