HLA-B*40:523 differs from HLA-B*40:92 in codon 167 in exon 3.
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http://dx.doi.org/10.1111/tan.15767 | DOI Listing |
Nat Med
January 2025
Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, CHU Liege, University of Liege, Liege, Belgium.
The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium.
View Article and Find Full Text PDFNat Plants
January 2025
Crops Research Institute, Guangdong Academy of Agricultural Sciences and Key Laboratory of Crop Genetic Improvement of Guangdong Province, Guangzhou, China.
Sci Rep
January 2025
Institute of Molecular Biology and Biotechnology (IMBB), The University of Lahore (UOL), Lahore, Pakistan.
Highly variable response shown by individuals against mosquito-borne infections suggests that host genetic factors play an important role in determining mosquito-borne disease onset. Therefore, it is necessary to determine the genetic risk of these diseases in specific populations. The current study aimed to determine the percentage of individuals in the general population carrying mosquito-borne disease susceptibility and protection-related variants.
View Article and Find Full Text PDFGene
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 PDFMol Genet Metab
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:
Cerebrotendinous Xanthomatosis (CTX) is a treatable, inborn error of bile acids metabolism caused by pathogenic variants in CYP27A1. CTX is a multi-organ system disorder that progresses over decades. Clinical features include cerebellar dysfunction, pyramidal tract dysfunction, cognitive deficits and decline, peripheral neuropathy, chronic diarrhea, bilateral cataracts, and tendon xanthomas.
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