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Association of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
View Article and Find Full Text PDFMapping and Validation of Quantitative Trait Loci on Yield-Related Traits Using Bi-Parental Recombinant Inbred Lines and Reciprocal Single-Segment Substitution Lines in Rice ( L.).
Plants (Basel)
December 2024
State Key Laboratory of Crop Gene Resources and Breeding, Institute of Crop Sciences, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Yield-related traits have higher heritability and lower genotype-by-environment interaction, making them more suitable for genetic studies in comparison with the yield per se. Different populations have been developed and employed in QTL mapping; however, the use of reciprocal SSSLs is limited. In this study, three kinds of bi-parental populations were used to investigate the stable and novel QTLs on six yield-related traits, i.
View Article and Find Full Text PDFNovel functional eQTL-SNPs associated with susceptibility to occupational pulmonary fibrosis: A multi-stage study.
Ecotoxicol Environ Saf
January 2025
Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Soochow University, Suzhou 215006, China; Department of Pulmonary and Critical Care Medicine, Dushu Lake Hospital Affiliated to Soochow University, Suzhou, Jiangsu 215000, China. Electronic address:
Aim: Identifying the common functional single-nucleotide polymorphisms (SNPs) that can both affect the susceptibility to idiopathic pulmonary fibrosis (IPF) and silicosis.
Methods: We first integrated the genome-wide association studies (GWASs) of IPF and silicosis to obtain the shared SNPs. Following this, functional expression quantitative trait locus (eQTL)-SNPs were identified by the GTEx database.
Immunoinformatics design of a novel multiepitope vaccine candidate against non-typhoidal salmonellosis caused by Salmonella Kentucky using outer membrane proteins A, C, and F.
PLoS One
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Foot and Mouth Disease Department, National Veterinary Research Institute, Vom, Plateau State, Nigeria.
The global public health risk posed by Salmonella Kentucky (S. Kentucky) is rising, particularly due to the dissemination of antimicrobial resistance genes in human and animal populations. This serovar, widespread in Africa, has emerged as a notable cause of non-typhoidal gastroenteritis in humans.
View Article and Find Full Text PDFModeling Malignant Mesothelioma in Genetically Engineered Mice.
Curr Protoc
January 2025
Cancer Prevention and Control Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania.
Mesothelioma is a lethal cancer of the serosal lining of the body cavities. Risk factors include environmental and genetic factors. Asbestos exposure is considered the principal environmental risk factor, but other carcinogenic mineral fibers, such as erionite, also have a causal role.
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