Categoría: Articulos
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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…
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Association of MUTYH mutations with breast cancer risk and adverse prognosis: a Chinese cohort study
WHAT IS ALREADY KNOWN ON THIS TOPICBefore this study, MUTYH’s established role was primarily in colorectal cancer syndromes, and large-scale evidence on its germline mutations in breast cancer—particularly among Chinese women—was abse…
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Hereditary lung and liver disease successfully treated for the first time using gene correction
Alpha-1 antitrypsin deficiency (AATM) is a congenital metabolic disorder. It is caused by a genetic defect, which results in the protective protein alpha-1 antitrypsin (AAT) being produced incorrectly. This deficiency primarily damages the lungs and th…