Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA

Katz, Martin L.; Cook, James; Vite, Charles H.; Campbell, Rebecca S.; Coghill, Lyndon M.; Lyons, Leslie A.

doi:10.1016/j.gene.2023.147941

Gene

2024

DOI: 10.1016/j.gene.2023.147941

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Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA

Martin L. Katz,

James Cook,

Charles H. Vite

et al.

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2024

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Toward telomere-to-telomere cat genomes for precision medicine and conservation biology

Murphy,

Harris

2024

Genome Res.

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Genomic data from species of the cat family Felidae promise to stimulate veterinary and human medical advances, and clarify the coherence of genome organization. We describe how interspecies hybrids have been instrumental in the genetic analysis of cats, from the first genetic maps to propelling cat genomes toward the T2T standard set by the human genome project. Genotype-to-phenotype mapping in cat models has revealed dozens of health-related genetic variants, the molecular basis for mammalian pigmentation and patterning, and species-specific adaptations. Improved genomic surveillance of natural and captive populations across the cat family tree will increase our understanding of the genetic architecture of traits, population dynamics, and guide a future of genome-enabled biodiversity conservation.

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Toward telomere-to-telomere cat genomes for precision medicine and conservation biology

Murphy,

Harris

2024

Genome Res.

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Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA

Cited by 1 publication

References 77 publications

Toward telomere-to-telomere cat genomes for precision medicine and conservation biology

Toward telomere-to-telomere cat genomes for precision medicine and conservation biology

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