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Browsing Tag

Mutation

8 posts
GGenetics
The Somatic Mosaicism across Human Tissues Network
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The Somatic Mosaicism across Human Tissues Network

  • July 19, 2025
Broad Institute of MIT and Harvard, Cambridge, MA, USA Tim H. H. Coorens, Boxun Zhao, Adam Voshall, Kristin G. Ardlie, Bradley E.…
GGenetics
Research, support and early diagnosis crucial for rare chromosome disorders | News
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Research, support and early diagnosis crucial for rare chromosome disorders | News

  • July 1, 2025
Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and…
GGenetics
Evidence Network
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Do you sleep little and don’t hear from it? Discovered another genetic mutation that helps

  • May 27, 2025
Those who survive with little sleep without suffering them also do it thanks to the genes. Here is…
GGenetics
The 7,000-year-old+ genetic mutation that protects against HIV Labmate Online
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The 7,000-year-old+ genetic mutation that protects against HIV Labmate Online

  • May 21, 2025
Researchers have traced where and when the HIV protective mutation arose but also how it gave northern European…
GGenetics
The sex-linked orange mutation in domestic cats causes variegated patches of reddish/yellow hair and is a defining signature of random X inactivation in female tortoiseshell and calico cats; unlike the situation for most coat color genes, there is no apparent homolog for sex-linked orange in other mammals; Kaelin et al. show that sex-linked orange is caused by a 5-kb deletion that leads to ectopic and melanocyte-specific expression of the Arhgap36 gene. Image credit: Kaelin et al., doi: 10.1016/j.cub.2025.04.055.
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Researchers Identify Genetic Mutation Responsible for Orange Coat in Domestic Cats

  • May 16, 2025
This mutation is located in the Rho GTPase Activating Protein 36 (Arhgap36) gene and appears to occur in…
GGenetics
DiffInvex identifies key genes driving chemotherapy resistance
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DiffInvex identifies key genes driving chemotherapy resistance

  • May 14, 2025
Just as species adapt over generations, our body’s cells accumulate DNA changes throughout life. Most are harmless, yet…
GGenetics
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism
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Advances in single-cell DNA sequencing enable insights into human somatic mosaicism

  • April 26, 2025
Bizzotto, S. et al. Landmarks of human embryonic development inscribed in somatic mutations. Science 371, 1249–1253 (2021). Article …
GGenetics
Genetic breakthrough in psychiatry using long-read genomic sequencing
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Transitioning pancreatic cells show lasting epigenetic cancer traits

  • April 25, 2025
Johns Hopkins Medicine scientists say they have found a pattern of so-called epigenetic “marks” in a transition state…
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