27 citations
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December 2013 in “Endocrinology” This study established a mouse model for Cushing's syndrome due to a specific Crh mutation, which may help explore the effects of glucocorticoid excess and evaluate treatments for corticosteroid-induced osteoporosis.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
59 citations
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May 2017 in “Scientific reports” This study found that ZDHHC13 deficiency in mice is associated with abnormal liver function, lipid metabolism issues, and impaired mitochondrial function, highlighting ZDHHC13's regulatory role in liver metabolism.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.