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Alzheimers Dement
December 2024
Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Background: Dementia is age-related with a significant genetic contribution, yet genome-wide association studies have not fully accounted for heritability. This discrepancy may in part be due to reliance on SNPs and small indels. Whole-genome sequencing (WGS) data in the Japanese population may reveal population-specific susceptibility loci for dementia.
View Article and Find Full Text PDFRe-arranging the Cis-regulatory Modules of Hox Complex in Drosophila via FLP-FRT and CRISPR/Cas9.
Methods Mol Biol
January 2025
Department of Plastic and Reconstructive Surgery, Johns Hopkins University, Baltimore, MD, USA.
FLP-FRT, a well-established technique for genome manipulation, and the revolutionary CRISPR/Cas9, known for its targeted indels, are combined in a novel approach. This unique method is applied to the Hox genes in the Drosophila melanogaster bithorax complex, which are closely located to the cis-regulatory modules that define their spatial-temporal regulation. The number and position of these genes are directly correlated to their expression pattern.
View Article and Find Full Text PDFThe synthesis of the novel toxin-colibactin and its mechanisms of tumorigenesis of colorectal cancer.
Front Microbiol
December 2024
Pediatric Surgery Department, Tianjin Medical University General Hospital, Tianjin, China.
is part of the normal flora of the human gut and performs vital functions; however, certain strains can cause disease in the host, impairing gut function and adversely affecting overall health. The pks gene cluster in the B2 serogroup encodes colibactin, a secondary metabolite and a potential gut toxin. However, the mechanism underlying colibactin production in is complex, and the function of the pks gene cluster is not fully understood.
View Article and Find Full Text PDFDevelopmental validation of a novel all-in one assay of X chromosomal multi-insertion/deletion loci for forensic genetics.
Sci Rep
December 2024
Department of Forensic Medicine, Guizhou Medical University, Guiyang, 550025, China.
Multi-insertion/deletion polymorphisms (Multi-InDels), as the novel genetic markers, show great potential in forensic research. Whereas, forensic researchers mainly focus on the multi-InDels on the autosomes, which can provide relatively limited information in some complex paternity cases. In this study, a novel X chromosomal multi-InDel multiplex amplification system was designed, containing 22 multi-InDels and one STR locus on the X chromosome.
View Article and Find Full Text PDFWorldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
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