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Browsing Tag

Biomedicine

111 posts
GGenetics
Reproducibility of genetic risk factors identified for long COVID using combinatorial analysis across US and UK patient cohorts with diverse ancestries | Journal of Translational Medicine
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Reproducibility of genetic risk factors identified for long COVID using combinatorial analysis across US and UK patient cohorts with diverse ancestries | Journal of Translational Medicine

  • 8 May 2025
Studies performed using traditional GWAS and meta-GWAS approaches on large patient populations (6,450 cases and 53,764 cases) respectively…
GGenetics
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations
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Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations

  • 4 May 2025
Isogenic model for TP53 mutagenesis by CRISPR-HDR To assess the functional impact of TP53 variants in a controlled…
GGenetics
Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns
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Human subcutaneous and visceral adipocyte atlases uncover classical and nonclassical adipocytes and depot-specific patterns

  • 4 May 2025
Human fat depot-specific adipocyte atlases To generate hSAT and hVAT depot-specific human adipocyte atlases, we performed single-nucleus RNA…
GGenetics
Genetic insights into infertility from large-scale analyses
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Genetic insights into infertility from large-scale analyses

  • 30 April 2025
World Health Organization. Infertility Prevalence Estimates, 1990–2021 (WHO, 2023). Venkatesh, S. S. et al. Nat. Genet. https://doi.org/10.1038/s41588-025-02156-8 (2025).…
GGenetics
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations
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GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations

  • 30 April 2025
Here, we report variants affecting GJA8 in 22 individuals from 15 new families, including 11 missense variants predicted…
GGenetics
Oryza genome evolution through a tetraploid lens
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Oryza genome evolution through a tetraploid lens

  • 28 April 2025
Tanksley, S. D. & McCouch, S. R. Seed banks and molecular maps: unlocking genetic potential from the wild.…
GGenetics
Spatial transcriptomics identifies molecular niche dysregulation associated with distal lung remodeling in pulmonary fibrosis
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Spatial transcriptomics identifies molecular niche dysregulation associated with distal lung remodeling in pulmonary fibrosis

  • 28 April 2025
Participants and samples The studies described here comply with ethical regulations as approved under local institutional review boards,…
GGermany
Evaluating the COVID-19 responses of Belgium, Denmark, Germany, the Netherlands, Sweden, and the United Kingdom, February–June 2020: a counterfactual modeling study | BMC Medicine
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Evaluating the COVID-19 responses of Belgium, Denmark, Germany, the Netherlands, Sweden, and the United Kingdom, February–June 2020: a counterfactual modeling study | BMC Medicine

  • 28 April 2025
This analysis quantifies the potential impact of different pandemic responses on COVID-19 mortality in six Northwestern European countries…
GGenetics
Integrating the environmental and genetic architectures of aging and mortality
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Integrating the environmental and genetic architectures of aging and mortality

  • 27 April 2025
Study design and participants The UKB is a prospective cohort study with extensive genetic and phenotype data available…
GGenetics
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
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Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

  • 27 April 2025
More than 4,000 genes have been established as etiological for a rare disease, of which only 69 are…
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