Categoría: Articulos
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New framework identifies 108 lysosomal disorders, nearly doubling recognized conditions
Lysosomal disorders can have devastating effects on patients but findings from a University of Sheffield-led collaborative study could support more precise diagnosis and help researchers identify shared targets for future treatments. The scientists hav…
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New framework identifies 108 lysosomal disorders, nearly doubling recognized conditions
Lysosomal disorders can have devastating effects on patients but findings from a University of Sheffield-led collaborative study could support more precise diagnosis and help researchers identify shared targets for future treatments. The scientists hav…
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Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure
European Journal of Human Genetics, Published online: 14 September 2026; doi:10.1038/s41431-026-02233-4Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure
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Pharmacogenomics: How your genes could help doctors choose the right medicine and dose
Two people can take the same dose of the same medicine and have very different results. One may improve, while the other gets little benefit or develops serious side effects. Part of the explanation often lies in their genes.
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Pharmacogenomics: How your genes could help doctors choose the right medicine and dose
Two people can take the same dose of the same medicine and have very different results. One may improve, while the other gets little benefit or develops serious side effects. Part of the explanation often lies in their genes.
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Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure
European Journal of Human Genetics, Published online: 14 September 2026; doi:10.1038/s41431-026-02233-4Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure
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Long-read sequencing reveals a hidden Alu-mediated splice defect in <i>CPLANE1</i>, causing orofaciodigital syndrome type VI
European Journal of Human Genetics, Published online: 12 September 2026; doi:10.1038/s41431-026-02224-5Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI
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Shedding new light on DNA repair in early human embryos, with implications for gene editing
Treating inherited diseases is one of the greatest challenges in modern medicine. In the future, targeted gene corrections at the earliest stages of embryonic development could help prevent certain inherited diseases from developing and being passed on…
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Shedding new light on DNA repair in early human embryos, with implications for gene editing
Treating inherited diseases is one of the greatest challenges in modern medicine. In the future, targeted gene corrections at the earliest stages of embryonic development could help prevent certain inherited diseases from developing and being passed on…
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Hologenomic interactions promote the higher-order evolvability of phenotypic complexity
Current models for evolvability and complexity generally focus on mutational and regulatory processes in the host genome alone, limiting their ability to explain the origin, inheritance, and dynamics of many phenotypes. We describe a framework treating…