Categoría: Articulos
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Massively parallel functional profiling prioritizes breast cancer risk variants and implicates CCDC88C in ER-positive breast cancer
Genome-wide association studies (GWASs), combined with fine-mapping, have identified 196 independent signals associated with breast cancer risk. Deciphering the functional basis of these associations can inform our understanding of the biology and etiology of breast cancer. Decoding GWAS risk associations is challenging due to linkage disequilibrium between variants and because most variants map to non-coding…
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Considering microRNAs as measures of extrinsic domains of risk in the context of underlying genetic characteristics: type 2 diabetes as an exemplar
The etiology of most health conditions is complex, arising from a combination of risk factors that include both intrinsic (i.e., genetic characteristics) and extrinsic (e.g., behaviors, the environment, social factors) domains. Until relatively recentl…
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Autism-risk mutations reveal two opposing patterns of brain gene activity
Autism spectrum disorder (ASD) is associated with more than 1,200 risk genes, raising a fundamental question: Do these diverse genetic changes affect the brain in entirely different ways, or do they converge on shared biological mechanisms?
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Autism-risk mutations reveal two opposing patterns of brain gene activity
Autism spectrum disorder (ASD) is associated with more than 1,200 risk genes, raising a fundamental question: Do these diverse genetic changes affect the brain in entirely different ways, or do they converge on shared biological mechanisms?
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Adult X-linked hypophosphatemia: multisystem morbidity and no evidence of genotype–phenotype correlation – insights from a Brazilian cohort
Background Methods Results Conclusion …
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Rare inherited EGFR mutation linked to dramatically increased lung cancer risk
A rare inherited mutation in the Epidermal Growth Factor Receptor (EGFR) gene is associated with a 25-fold increased risk of lung cancer, according to a study by investigators at Dana-Farber Cancer Institute and 23andMe Research Institute. The findings…
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Rare inherited EGFR mutation linked to dramatically increased lung cancer risk
A rare inherited mutation in the Epidermal Growth Factor Receptor (EGFR) gene is associated with a 25-fold increased risk of lung cancer, according to a study by investigators at Dana-Farber Cancer Institute and 23andMe Research Institute. The findings…
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New findings shed light on rare newly identified TCF7L2-related neurodevelopmental disorder
Researchers have completed the largest study to date of TCF7L2-related neurodevelopmental disorder (TRND), a rare genetic condition caused by changes in the TCF7L2 gene, which plays an important role in brain development. By analyzing 76 patients from …
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New findings shed light on rare newly identified TCF7L2-related neurodevelopmental disorder
Researchers have completed the largest study to date of TCF7L2-related neurodevelopmental disorder (TRND), a rare genetic condition caused by changes in the TCF7L2 gene, which plays an important role in brain development. By analyzing 76 patients from …
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Tumor profiling reveals enzyme as a candidate target in aggressive brain cancer
Researchers at the Icahn School of Medicine at Mount Sinai and collaborators have identified candidate treatment targets and potential prognostic markers for high-grade glioma, an aggressive brain cancer, in children, adolescents and young adults.