For the first time the relationship between mutations in the pancreatic secretory trypsin inhibitor (SPINK1) in humans and the development of chronic pancreatitis was established in 2000. By mid 2011 the number of studies on the influence of SPINK1 gene mutations on the development of pancreatitis exceeds 250, the results vary greatly. According to modern concepts, mutations in SPINK1 gene are associated with the development of both acute and chronic pancreatitis, and are defined in all etiological forms. Literature review shows the data of the most significant studies about the role of SPINK1 gene mutations in pancreatic diseases.
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Gac Med Mex
January 2025
School of Medicine, Pontificia Universidad Javeriana.
Background: In Colombia, gastric cancer is fifth in incidence (12.8 cases per 100,000) and third in mortality (9.9 cases per 100,000).
View Article and Find Full Text PDFGenomics Proteomics Bioinformatics
January 2025
Center for Epigenetics and Disease Prevention, Institute of Biosciences and Technology, Texas A&M University, Houston, TX 77030, USA.
Tumor-specific antigens, also known as neoantigens, have potential utility in anti-cancer immunotherapy, including immune checkpoint blockade (ICB), neoantigen-specific T cell receptor-engineered T (TCR-T), chimeric antigen receptor T (CAR-T), and therapeutic cancer vaccines (TCVs). After recognizing presented neoantigens, the immune system becomes activated and triggers the death of tumor cells. Neoantigens may be derived from multiple origins, including somatic mutations (single nucleotide variants, insertion/deletions, and gene fusions), circular RNAs, alternative splicing, RNA editing, and polymorphic microbiome.
View Article and Find Full Text PDFNeoplasma
December 2024
Department of Clinical and Molecular Pathology and Medical Genetics, Faculty of Medicine, University of Ostrava, Ostrava, Czech Republic.
DNA methylation is recognized as an early event in cancer initiation and progression. This review aimed to compare the methylation status of promoter regions in selected genes across different histological subtypes of non-small cell lung cancer (NSCLC), including adenocarcinoma, squamous cell carcinoma, large cell carcinoma, and the rare but highly aggressive large-cell neuroendocrine carcinoma (LCNEC). A comprehensive literature search was conducted in the PubMed database until August 17, 2024, using standardized keywords to identify reports on promoter methylation in NSCLC.
View Article and Find Full Text PDFFunct Integr Genomics
January 2025
Department of Plant Breeding and Genetics, Agricultural College and Research Institute, Madurai, Tamil Nadu, 625104, India.
Dwarfism is a major trait for developing lodging-resistant rice cultivars. Gamma irradiation-induced mutagenesis has proven to be an effective method for generating dwarf rice mutants. In this research, we isolated a dwarf mutant from Anna R (4) in the M generation and subsequently stabilized the trait through successive selfing of progeny across the M-M generations.
View Article and Find Full Text PDFBrief Bioinform
November 2024
Program of Cell and Gene Therapy, Division of Experimental and Translational Research, Brazilian National Cancer Institute (INCA), Rio de Janeiro, Brazil.
Antigen recognition by CD8+ T-cell receptors (TCR) is crucial for immune responses to pathogens and tumors. TCRs are cross-reactive, a single TCR can recognize multiple peptide-Human Leukocyte Antigen (HLA) complexes. The study of cross-reactivity can support the development of therapies focusing on immune modulation, such as the expansion of pre-existing T-cell clones to fight pathogens and tumors.
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