Autor: Clinical genetics
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Million-cell map of hypertrophic cardiomyopathy could pave the way for precision treatments
An international team led by researchers from Harvard Medical School, Brigham and Women’s Hospital, and the Max Delbrück Center for Molecular Medicine in Germany has created a detailed map of the molecular activity underlying hypertrophic cardiomyopath…
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Big data analysis sheds light on psoriasis’s genetic code
A research team from South Korea has revealed the specific mechanisms behind the onset of psoriasis by combining large-scale genomic data from more than 1.1 million people with advanced single-cell analysis technology. The team also identified a number…
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Big data analysis sheds light on psoriasis’s genetic code
A research team from South Korea has revealed the specific mechanisms behind the onset of psoriasis by combining large-scale genomic data from more than 1.1 million people with advanced single-cell analysis technology. The team also identified a number…
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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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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.