1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
February 2017 in “Cancer Causes & Control” In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.
2 citations
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March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
240 citations
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April 2011 in “Pigment Cell & Melanoma Research” This review discusses the identification and characteristics of melanocyte stem cells, emphasizing their role in hair pigmentation, greying, and skin repigmentation, but reports no new research findings.