Categoría: Articulos
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Editorial on the hereditary cancer special issue
European Journal of Human Genetics, Published online: 07 September 2026; doi:10.1038/s41431-026-02212-9Editorial on the hereditary cancer special issue
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Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex
BackgroundSpinal muscular atrophy (SMA) and tuberous sclerosis complex (TSC) are both rare genetic disorders, and their co-occurrence is expected to be exceptionally uncommon. Although risdiplam has demonstrated efficacy in SMA, evidence regarding its …
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Regulatory Evolution and the Genetic Basis of Human Brain Expansion
The evolution of the human brain is characterized by profound changes in structure and function, despite relatively limited divergence in protein-coding genes compared to other primates. This paradox has led to increasing recognition of gene regulatory elements (GREs) as primary drivers of evolutionary innovation. In this review, we synthesize current knowledge on the role of…
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Origins of COPD may lie in how some children’s lungs develop, but only when they are exposed to polluted air
Chronic obstructive pulmonary disease (COPD) is a serious, incurable lung disease that is common in older people. However, researchers are learning that the origins of the disease may lie decades earlier in how children’s lungs grow and develop.
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Origins of COPD may lie in how some children’s lungs develop, but only when they are exposed to polluted air
Chronic obstructive pulmonary disease (COPD) is a serious, incurable lung disease that is common in older people. However, researchers are learning that the origins of the disease may lie decades earlier in how children’s lungs grow and develop.
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Bibliometric mapping of scientific production on maturity-onset diabetes of the young: evolution, hotspots, and future directions
Background Methods Results Conclusion …
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Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER
Background Main body Conclusion
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Patient pathways for rare liver diseases: a European template developed by ERN RARE-LIVER
Background Main body Conclusion
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Bibliometric mapping of scientific production on maturity-onset diabetes of the young: evolution, hotspots, and future directions
Background Methods Results Conclusion …
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Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L syndrome
The mediator kinase module (MKM) coordinates transcriptional programs regulating cellular metabolism, stress responses, and differentiation. Heterozygous variants of MED13L, a core MKM component, cause a neurodevelopmental disorder characterized by variable intellectual disability, developmental delay, hypotonia and motor impairment, and congenital anomalies. However, the molecular basis underlying this clinical heterogeneity is poorly defined. Previously, we identified…