14 citations
,
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.
1 citations
,
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
,
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.
25 citations
,
June 2017 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that humanized mouse models expressing mutated or reduced levels of the vitamin D receptor were able to maintain normal mineral homeostasis and prevent typical symptoms of vitamin D resistance.
70 citations
,
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.