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Browsing Tag

Mutation

34 posts
SScience
Breakthroughs in diagnosis and therapy for transthyretin amyloidosis
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Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms

  • November 8, 2025
Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of…
HHealth
Lubiprostone shows promise in slowing kidney disease progression
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Mutated RIG-I receptor causes kidney inflammation through Y-RNA activation

  • October 31, 2025
Researchers at the University Hospital Bonn (UKB) and the University of Bonn have discovered how a small, naturally…
SScience
precision DNA repair may hold clues for human aging
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precision DNA repair may hold clues for human aging

  • October 31, 2025
The bowhead whale’s remarkable lifespan and low cancer risk stem from a finely tuned DNA repair system driven…
GGenetics
New generation of CRISPR shows safer path to treating genetic diseases
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New gene-editing method can correct many disease-causing mutations in mammalian cells

  • October 23, 2025
Some genetic disorders-such as cystic fibrosis, hemophilia and Tay Sachs disease-involve many mutations in a person’s genome, often…
GGenetics
Photo of an orange cat
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Orange Cats Are Genetically Unlike Any Other Mammal and Now We Know Why

  • October 19, 2025
Credit: Pixabay. Chris Kaelin, a geneticist at Stanford Medicine, found himself thinking about cats. Not just any cats,…
HHealth
Depressive symptoms may interfere with learning to actively avoid unpleasant events
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Pioneering personalized medicine by deciphering depression’s complex biological web

  • October 15, 2025
In a compelling Genomic Press Interview published today in Genomic Psychiatry, Dr. Najaf Amin unveils transformative insights that…
GGenetics
Somatic mutation and selection at population scale
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Somatic mutation and selection at population scale

  • October 8, 2025
Cohort selection The TwinsUK study contains around 16,000 participants. From a preselection of 4,800 donors, we invited 1,796…
HHealth
Refined DNA sequencing tool reveals hidden mutations behind aging and cancer
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Refined DNA sequencing tool reveals hidden mutations behind aging and cancer

  • October 8, 2025
Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our…
HHealth
Blood Cancer Illustration
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“Junk DNA” Provides Surprising New Treatments for Hard-To-Treat Blood Cancers

  • September 26, 2025
Researchers at King’s College London have uncovered a surprising vulnerability in certain blood cancers by targeting a part…
HHealth
Calcium-induced release identified as key driver of dangerous muscle disorders
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Calcium-induced release identified as key driver of dangerous muscle disorders

  • September 26, 2025
Researchers engineered mice with a mutation (E3896A) in the RyR1 calcium-binding site, eliminating calcium-induced calcium release (CICR) without…
GGenetics
mosquito
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Malaria-Transmitting Mosquito’s Genetic Diversity and Evolution Revealed

  • September 19, 2025
There are a variety of methods that have been established to curtail the spread of infectious disease, from…
GGenetics
Amino acid metabolism shapes the tumor immune microenvironment and therapy response
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Low dose of aspirin cuts recurrence risk in colorectal cancer with genetic mutation

  • September 18, 2025
A Swedish-led research team at Karolinska Institutet and Karolinska University Hospital has shown in a new randomized clinical…
Ireland
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