14 citations
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October 2020 in “Scientific reports” This study found that ATM protein plays a crucial role in protecting human hair follicle melanocytes from oxidative stress, which is linked to the greying of hair.
57 citations
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March 2011 in “Pediatric Dermatology” In this study, skin manifestations were observed in 48% of children with primary immunodeficiency disorders, often providing crucial diagnostic clues for early identification of these conditions.
1 citations
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May 2021 in “BMC Proceedings” This study found that frequent attenders at Cork University Hospital's emergency department accounted for a disproportionate amount of visits and were more likely to require admission for further care.
71 citations
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February 2012 in “The American Journal of Human Genetics” This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.
70 citations
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March 2008 in “Mechanisms of Ageing and Development” This review discusses genome maintenance mechanisms critical for preventing age-related diseases by preserving stem and progenitor cell potential, but reports no new empirical findings.