Recent elucidation of the genetic basis of the Vel blood group system has offered the field of blood transfusion medicine an additional consideration in determining the causes of hemolytic reactions after a patient is transfused. The identification of the SMIM1 gene to be responsible for the Vel blood group allows molecular based tools to be developed to further dissect the function of this antigen. Genetic signatures such as the homozygous 17 bp deletion and the heterozygous 17 bp deletion in combination with other single nucleotide polymorphisms (SNPs) and insertion sequences regulate the expression level of the gene. With this knowledge, it is now possible to study this antigen in-depth.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416411 | PMC |
| http://dx.doi.org/10.1016/j.parepi.2019.e00101 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Structural basis of nearest-neighbor cooperativity in the ring-shaped gene regulatory protein TRAP from protein engineering and cryo-EM.
Proc Natl Acad Sci U S A
January 2025
Department of Chemistry and Biochemistry, The Ohio State University, Columbus, OH 43210.
The homo-dodecameric ring-shaped RNA binding attenuation protein (TRAP) from binds up to twelve tryptophan ligands (Trp) and becomes activated to bind a specific sequence in the 5' leader region of the operon mRNA, thereby downregulating biosynthesis of Trp. Thermodynamic measurements of Trp binding have revealed a range of cooperative behavior for different TRAP variants, even if the averaged apparent affinities for Trp have been found to be similar. Proximity between the ligand binding sites, and the ligand-coupled disorder-to-order transition has implicated nearest-neighbor interactions in cooperativity.
View Article and Find Full Text PDFDe novo KCNB1 missense variant causing developmental and epileptic encephalopathy: Two case reports.
Medicine (Baltimore)
January 2025
Epilepsy Center, Children's Hospital Affiliated to Shandong University, Jinan, China.
Rationale: Developmental and epileptic encephalopathy (DEE) defines a group of severe and heterogeneous neurodevelopmental disorders. The voltage-gated potassium channel subfamily 2 voltage-gated potassium channel α subunit encoded by the KCNB1 gene is essential for neuronal excitability. Previous studies have shown that KCNB1 variants can cause DEE.
View Article and Find Full Text PDFThe ecdysone-induced bZIP transcription factor MafB establishes a positive feedback loop to enhance vitellogenesis and reproduction in the mosquito.
Proc Natl Acad Sci U S A
January 2025
Department of Entomology, University of California, Riverside, CA 92521.
Female mosquitoes require a vertebrate blood meal to activate reproduction, transmitting numerous devastating human diseases. Vitellogenesis is a central event of female reproduction that involves the massive production of vitellogenin (Vg) in the fat body and the maturation of ovaries. This process is controlled by the steroid hormone 20-hydroxyecdysone (20E); however, its molecular regulatory basis remains not completely understood.
View Article and Find Full Text PDFMolecular Epidemiology and Clinical Aspects of Dermatophytosis in Guiyang, Southwest China (2017-2023): A Single-Institution Retrospective Study.
Mycopathologia
January 2025
Department of Dermatology, The Affiliated Hospital of Guizhou Medical University, Beijing Road 4, Yunyan District, Guiyang, China.
Epidemiological studies combining taxonomic and clinical data have been limited globally, particularly Guiyang, the most under-developed economic provincial capital city in southwestern China. A retrospective analysis was performed of dermatophyte epidemiology involving all culture-positive cases received between May 2017 and May 2023 at the Affiliated Hospital of Guizhou Medical University. Phylogenetic analysis was conducted on 391 dermatophyte isolates collected from patients using the rDNA internal transcribed spacer sequences.
View Article and Find Full Text PDFTargeted therapy has emerged as a promising option in cancer treatment, driven by advances in the understanding of DNA changes and the molecular basis of cancer. This article provides an overview of next-generation sequencing and types of genetic alterations, common cancer biomarkers, a review of circulating tumor DNA testing and its applications for oncology treatments, how to read a genomic testing report, examples of targeted therapy for cancer pathologic variants and tumor markers, and the implications for nursing practice in this emerging field.
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!