May 2025 in “Ecology and Evolution” This study reports the draft genome sequence of the endangered Indus River dolphin and suggests potential genetic adaptations to freshwater environments, including specialized skin features and immune adaptations, while also highlighting historical and human-induced factors contributing to its low genetic diversity.
40 citations
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February 2005 in “Fertility and Sterility” This study suggests that although the G972R variant of the IRS1 gene might increase AA excess risk in heterozygous carriers with CYP21 mutations, both variations play a limited role in PCOS development.
22 citations
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September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
3 citations
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October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” This study found that finasteride was nongenotoxic in Drosophila, while doxazosin mesylate and saw palmetto induced homologous recombination, indicating potential genotoxic actions under the test conditions.
31 citations
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February 1997 in “The Journal of Clinical Endocrinology and Metabolism” This study concluded that heterozygosity for CYP21 mutations is associated with higher mean and free testosterone levels in women but does not significantly increase their risk of developing clinically evident hyperandrogenism.