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Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
Hum Genomics
January 2025
Division of Genome Science, Department of Precision Medicine, Korea National Institute of Health, Korea Disease Control and Prevention Agency, Cheongju, Chungbuk, 28159, Republic of Korea.
Background: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause of CA is essential for accurate diagnosis and treatment. Using a target-gene approach, genetic variants could be found in certain CA patients.
View Article and Find Full Text PDFResolving the source of branch length variation in the Y chromosome phylogeny.
Genome Biol
January 2025
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
Background: Genetic variation in the non-recombining part of the human Y chromosome has provided important insight into the paternal history of human populations. However, a significant and yet unexplained branch length variation of Y chromosome lineages has been observed, notably amongst those that are highly diverged from the human reference Y chromosome. Understanding the origin of this variation, which has previously been attributed to changes in generation time, mutation rate, or efficacy of selection, is important for accurately reconstructing human evolutionary and demographic history.
View Article and Find Full Text PDFAn integrative taxonomic approach reveals two putatively novel species of phlebotomine sand fly (Diptera: Psychodidae) in Thailand.
Parasit Vectors
January 2025
Center of Excellence in Veterinary Parasitology, Department of Pathology, Faculty of Veterinary Science, Chulalongkorn University, Bangkok, 10330, Thailand.
Background: The subfamily Phlebotominae comprises 1028 species of sand fly, of which only 90 are recognized as vectors of pathogenic agents such as Trypanosoma, Leishmania, and Bartonella. In Thailand, leishmaniasis-a sand fly-borne disease-is currently endemic, with 36 documented sand fly species. However, many cryptic species likely remain unidentified.
View Article and Find Full Text PDFmRNA vaccines in the context of cancer treatment: from concept to application.
J Transl Med
January 2025
Department of Biochemistry and Molecular Biology, Binzhou Medical University, 346 Guanhai Road, Yantai, 264003, P. R. China.
Immuno-oncology has witnessed remarkable advancements in the past decade, revolutionizing the landscape of cancer therapeutics in an encouraging manner. Among the diverse immunotherapy strategies, mRNA vaccines have ushered in a new era for the therapeutic management of malignant diseases, primarily due to their impressive impact on the COVID-19 pandemic. In this comprehensive review, we offer a systematic overview of mRNA vaccines, focusing on the optimization of structural design, the crucial role of delivery materials, and the administration route.
View Article and Find Full Text PDFVirtual screening assisted identification of a phytocompound as potent inhibitor against Candida lusitaniae; an in-silico study.
BMC Infect Dis
January 2025
Department of Clinical Laboratory Sciences, College of Applied Medical Science, King Khalid University, Abha, Saudi Arabia.
Candida lusitaniae is one of the fungal species which causes serious health illnesses including peritonitis, vaginitis and fungemia, among others. Several antifungal drugs have been designed to tackle its infections but their efficacy is still questionable due to their associated side effects. Hence, there is a need to design those drugs which possess comparatively higher degree of therapeutic potential.
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