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Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Genes (Basel)
January 2025
Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada.
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase () cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation in phenotype severity seen often in a given carrier. Here, we provide an updated overview of genetic variation in in the context of HTG, with a focus on disease-causing and/or disease-associated variants.
View Article and Find Full Text PDFGenetic Polymorphisms in HMGCS1 Gene and Its Association with Slaughter Characteristics, Meat Quality, and Organ Coefficients in Guizhou White Goats.
Anim Biosci
January 2025
Key Laboratory of Animal Genetics, Breeding and Reproduction in the Plateau Mountainous Region, Ministry of Education, Guizhou Province/Guiyang City/Huaxi District, China.
Objective: This study aimed to identify polymorphisms in the gene encoding the 3-hydroxy-3-methylglutaryl-CoA synthase 1, HMGCS1, and analyze their association with slaughter characteristics, meat quality, and organ coefficients in Guizhou white goats.
Methods: A total of 153 twelve-month-old Guizhou white goats (78 male and 75 female) were included in the study. Slaughter characteristics, meat quality, and organ coefficients were assessed.
Ovalbumin gene polymorphism: Implications for hatchability and egg quality changes during storage in Japanese quail.
Poult Sci
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Institute of Biological Bases of Animal Production, University of Life Sciences in Lublin, 13 Akademicka St., 20-950 Lublin, Poland.
The aim of the study was to identify polymorphisms in the ovalbumin gene - SERPINB14 gene and evaluate their effect on hatchability traits and egg quality changes during storage in two strains of Japanese quails: meat-type (F33) and laying-type (S22). To individually determine hatchability traits for each female, eggs were collected and incubated. To determine egg quality traits, 10 eggs were collected from each female and stored for 14 weeks.
View Article and Find Full Text PDFThe Novel HLA-DPB1*1617:01 Allele Characterised by Two Different Sequencing-Based Typing Techniques.
HLA
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HLA and Histocompatibility Laboratory, CHRU de Nancy, Vandœuvre-lès-Nancy, France.
The novel allele HLA-DPB1*1617:01 differs from HLA-DPB1*05:01:01:01 by one non-synonymous nucleotide substitution in exon 2.
View Article and Find Full Text PDFNovel Allele HLA-B*52:130, Identified by Next-Generation Sequencing.
HLA
January 2025
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Medical University, Moscow, Russia.
The new HLA-B*52:130 allele showed one nonsynonymous nucleotide difference compared to the HLA-B*52:01:01:01 allele in codon 170.
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