Categoría: Articulos
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Key gene preserves lifelong supply of stem cells that make bone healing possible, study suggests
The action of a key gene is required to maintain a lifelong supply of stem cells that make bone healing possible, a new study finds.
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Researchers identify genetic ‘convergence’ in autism and a possible explanation for the female protective effect
In many cases, all it takes is one mutated gene to orchestrate changes across a whole network of genes linked to autism, according to new results published in Nature by researchers at Boston Children’s Hospital. The finding could explain why different …
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Living with dystrophic epidermolysis bullosa in Poland: first national study of health-related quality of life and symptom burden
Background Methods Results Conclusions …
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Patient-reported experiences of people living with a rare disease with secondary and tertiary care: a scoping review
Background Results Conclusions
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Hidden ancestral links found in motor neuron disease and dementia could speed up gene discovery
Researchers at the Macquarie University Brain Institute and Clinic have helped accelerate the search for disease-causing genes by building new genetic ‘families.’ The team uncovered hundreds of previously unrecognized family connections by analyzing th…
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Breast cancer atlas reveals hidden subtypes to help chart course for precision oncology
A new molecular map of breast cancer has identified novel forms of the disease and provides a foundation for selecting personalized treatments guided by a tumor’s molecular characteristics rather than standard pathology alone.
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New clues about why the eye’s iris sheds in pigmentary glaucoma
Yale School of Medicine researchers have discovered new genetic risk factors associated with a subtype of the eye condition glaucoma. The findings highlight a novel mechanism that may contribute to the onset of the disease.
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Rare non-coding variant rs890306703 is genetically associated with early-onset severe retinal degeneration
IntroductionInherited retinal dystrophies (IRDs) are rare genetically heterogeneous disorders, characterised by photoreceptor (PR) disease and vision loss. Most IRDs are progressive involving varying degrees of rod and cone PR loss of function, such as…