98%
921
2 minutes
20
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.jid.2023.04.036 | DOI Listing |
G3 (Bethesda)
September 2025
Department of Biology, Stanford University, Stanford, CA 94305, USA.
The ψ directionality index was introduced by Peter & Slatkin (Evolution 67: 3274-3289, 2013) to infer the direction of range expansions from single-nucleotide polymorphism variation. Computed from the joint site frequency spectrum for two populations, ψ uses shared genetic variants to measure the difference in the amount of genetic drift experienced by the populations, associating excess drift with greater distance from the origin of the range expansion. Although ψ has been successfully applied in natural populations, its statistical properties have not been well understood.
View Article and Find Full Text PDFCase Rep Genet
August 2025
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
is the primary high-risk predisposition gene for familial cutaneous melanoma. In the Netherlands, most carriers of pathogenic germline variants in harbor a unique, population-specific founder variant, c.225_243del, commonly referred to as p16-.
View Article and Find Full Text PDFClin Immunol
September 2025
Department of Experimental Pathology, Immunology, and Microbiology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon; Division of Pediatric Infectious Diseases, Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Center
Chronic Granulomatous Disease (CGD) is caused by mutations in the NADPH oxidase complex that impair the ability of phagocytes to eliminate injested pathogens. As a result, patients with CGD suffer from recurrent infections and chronic inflammation. We report the clinical, biochemical, and genetic basis of the disease in 17 CGD patients from Lebanon.
View Article and Find Full Text PDFBrain Dev
September 2025
Department of Pediatrics, Kochi Medical School, Kochi University, Kohasu, Okoh-cho, Nankoku, Kochi 783-8505, Japan.
Fukuyama congenital muscular dystrophy (FCMD, a severe form of muscular dystrophy characterized by brain structural anomalies and ocular complications due to neuronal migration disorders, is notably limited mainly to Japan. Ninety percent of patients are unable to walk throughout their lives and die before the age of 20 due to respiratory failure and cardiomyopathy. At present, there is no cure.
View Article and Find Full Text PDFJ Hum Genet
September 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
GNE myopathy is an autosomal recessive distal myopathy resulting from biallelic pathogenic variants in the GNE gene, a key enzyme in sialic acid biosynthesis. Although most pathogenic variants are missense variants, recent advances have enabled the identification of copy number variations, deep intronic variants, and regulatory changes in the promoter region, significantly enhancing diagnostic accuracy. Progress in genetic diagnostics now allows detection of rare and complex variants.
View Article and Find Full Text PDF