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   Articles with "associated pathogenic" as a keyword



New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants

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recommendations! Published in 2025 at "International Journal of Developmental Neuroscience"

DOI: 10.1002/jdn.70019

Abstract: Pathogenic variants in nine genes (AGS1‐9) were mainly reported in patients with Aicardi–Goutières syndrome (AGS), which is a genetic disorder of the innate immune response associated with improper induction of Type I interferon (IFN). These… read more here.

Keywords: pathogenic rnaseh2b; samhd1; phenotypes associated; new phenotypes ... See more keywords

Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis

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recommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2494

Abstract: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐function variant, p.Tyr715Cys, in the C‐terminal domain of ClC‐7 encoded by… read more here.

Keywords: osteopetrosis; multisystem disorder; variant; pathogenic variant ... See more keywords

Bat-Associated Pathogenic Leptospira spp. from Forest Fragments in Southwestern Brazilian Amazonia

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recommendations! Published in 2024 at "Transboundary and Emerging Diseases"

DOI: 10.1155/2024/6633866

Abstract: Bats are known as potential carriers of different pathogens; these animals have been identified worldwide as an important reservoir of different species of Leptospira. Therefore, there has been an increasing interest in studying leptospirosis in… read more here.

Keywords: leptospira spp; leptospira; pathogenic leptospira; bat associated ... See more keywords

Performance of two Ips bark beetles and their associated pathogenic fungi on hosts reflects a species-specific association in the beetle-fungus complex

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recommendations! Published in 2022 at "Frontiers in Plant Science"

DOI: 10.3389/fpls.2022.1029526

Abstract: When Ips bark beetles invade and colonize the host plants, their associated pathogenic fungal partners are carried into the phloem of the host trees. Host trees are lethally attacked by the beetle-fungus complex and the… read more here.

Keywords: bark beetles; associated pathogenic; ips bark; host ... See more keywords