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Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1.
PLoS One
December 2024
School of Medicine and Health Sciences, Center for Research in Genetics and Genomics (CIGGUR), Institute of Translational Medicine (IMT), Universidad del Rosario, Bogotá D.C., Colombia.
Hereditary angioedema type 1 (HAE1) is a rare, genetically heterogeneous, and autosomal dominant disease. It is a highly variable, insidious, and potentially life-threatening condition, characterized by sudden local, often asymmetric, and episodic subcutaneous and submucosal swelling, caused by pathogenic molecular variants in the SERPING1 gene, which codes for C1-Inhibitor protein. This study performed the phenotypic and molecular characterization of a HAE1 cluster that includes the largest number of affected worldwide.
View Article and Find Full Text PDFLiver organoids: Current advances and future applications for hepatology.
Clin Mol Hepatol
December 2024
Department of Surgery, Hanyang University College of Medicine, Seoul 04763, Republic of Korea.
The creation of self-organizing liver organoids represents a significant, although modest, step toward addressing the ongoing organ shortage crisis in allogeneic liver transplantation. However, researchers have recognized that achieving a fully functional whole liver remains a distant goal, and the original ambition of organoid-based liver generation has been temporarily put on hold. Instead, liver organoids have revolutionized the field of hepatology, extending their influence into various domains of precision and molecular medicine.
View Article and Find Full Text PDFA Systematic Method to Detect Next-Generation Sequencing-Based Microsatellite Instability in Plasma Cell-Free DNA: plasmaMSI.
J Mol Diagn
January 2025
Kunming Medical University, Kunming, China; Department of Colorectal Surgery, The Third Affiliated Hospital of Kunming Medical University, Yunnan Cancer Hospital, Kunming, China. Electronic address:
Microsatellite instability (MSI) detection using tumor tissue is a well-established prognostic and predictive biomarker for certain types of cancers. However, tumor tissue samples are less convenient to obtain than blood plasma samples. The main challenge facing next-generation sequencing-based MSI detection in blood plasma samples is the ultralow signal/noise ratio in plasma cell-free DNA (cfDNA).
View Article and Find Full Text PDFUnraveling the degradation mechanism of multiple pyrethroid insecticides by Pseudomonas aeruginosa and its environmental bioremediation potential.
Environ Int
December 2024
State Key Laboratory of Green Pesticide, Guangdong Province Key Laboratory of Microbial Signals and Disease Control, Integrative Microbiology Research Centre, South China Agricultural University, Guangzhou 510642, China; College of Plant Protection, South China Agricultural University, Guangzhou 510642, China. Electronic address:
Extensive use of pyrethroid insecticides poses significant risks to both ecological ecosystems and human beings. Herein, Pseudomonas aeruginosa PAO1 exhibited exceptional degradation capabilities towards a range of pyrethroid family insecticides including etofenprox, bifenthrin, tetramethrin, D-cypermethrin, allethrin, and permethrin, with a degradation efficiency reaching over 84 % within 36 h (50 mg·L). Strain PAO1 demonstrated effective soil bioremediation by removing etofenprox across different concentrations (25-100 mg·kg), with a degradation efficiency over 77 % within 15 days.
View Article and Find Full Text PDFSedum alfredii Hance: A cadmium and zinc hyperaccumulating plant.
Ecotoxicol Environ Saf
December 2024
Key Laboratory of Groundwater Resources and Environment, Ministry of Education, Changchun 130021, PR China; College of New Energy and Environment, Jilin University, Changchun 130021, PR China; Key Laboratory of Regional Environment and Eco-restoration, Ministry of Education, Shenyang University, Shenyang 110044, PR China. Electronic address:
The hyperaccumulating ecotype Sedum alfredii Hance is one of few Cd hyperaccumulators with Cd contents in leaves and stems up to 9000 mg/kg (dry weight, DW) and 6500 mg/kg (DW) respectively without displaying significant toxicity symptoms as reported in 2004. Numerous studies have been conducted to uncover the mystery of its hypertolerance and hyperaccumulation using high-throughput sequencing, biochemical and molecular techniques, mainly pointing to the root-microorganism interaction, restrained Cd storage in roots, efficient root-shoot translocation, effective cellular detoxification, and phloem-mediated metal remobilization. This also encourages studies on functional genes involved in metal transport, antioxidant, transcription regulation and stress response, providing candidates for genetic modification.
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