Quantitative individual differences in the amount of β-casein in goat milk are determined by at least nine alleles. In particular, two alleles (CSN2(0) and CSN2(01) ) are associated with an undetectable amount of this protein in milk. The CSN2(01) allele is characterized by a single nucleotide substitution at position 373 of the seventh exon (AJ011018:g.8915C>T), responsible for the formation of a premature stop codon at the 182 position. Herein, we report the contribution of the SNP g.1311T>C, which demonstrates a linkage with the SNP AJ011018:g.8915C>T, to the promoter transcriptional activity. Particularly, we indicate that the nucleotide C at position 1311 negatively affects the promoter activity of the CSN2 gene.
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http://dx.doi.org/10.1111/age.12443 | DOI Listing |
Am J Sports Med
January 2025
Department of Orthopaedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Background: Anterior cruciate ligament (ACL) injuries are common in pediatric and adolescent patients. Understanding this population's injury characteristics and treatment strategies is vital for managing this high-risk group.
Purpose: To report the descriptive epidemiology and treatment strategies of a large cohort of skeletally immature patients with complete ACL tears.
BMC Genomics
January 2025
Cannabis Innovation and Research Center, Université de Moncton, Moncton, New-Brunswick, Canada.
Background: Due to its previously illicit nature, Cannabis sativa had not fully reaped the benefits of recent innovations in genomics and plant sciences. However, Canada's legalization of C. sativa and products derived from its flower in 2018 triggered significant new demand for robust genotyping tools to assist breeders in meeting consumer demands.
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January 2025
School of Public Health, North China University of Science and Technology, Tangshan, China; College of Life Sciences, North China University of Science and Technology, Tangshan, China; Hebei Key Laboratory of Occupational Health and Safety for Coal Industry, Tangshan, China. Electronic address:
Background: Genome-wide association studies (GWAS) have identified susceptibility loci for colorectal cancer (CRC), but the underlying mechanisms remain unclear. This study investigates functional genetic variants in promoter regions of Leucine Rich Repeat Containing 6 (LRRC6) at 8q24 and Myotubularin Related Protein 10 (MTMR10) at 15q13.3 and their association with CRC susceptibility.
View Article and Find Full Text PDFIndian J Nephrol
July 2024
Department of Clinical Chemistry, Theodor Bilharz Research Institute, Giza, Egypt.
Background: The low-density lipoprotein receptor () is essential for regulating intracellular cholesterol levels. Mutations in the gene can cause a increase in LDL cholesterol levels in the blood, elevating the vulnerability to cardiovascular disease (CVD). This study evaluated the correlation between the rs688 polymorphism and CVD risk in chronic kidney disease (CKD).
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application in twin pregnancies is blank. Here we provide a novel algorithmic approach to assess singleton and twin pregnancies in the first trimester.
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