137 citations
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September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
2 citations
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January 1997 in “Journal of Clinical Biochemistry and Nutrition” This study found that germ-free mice on a biotin-deficient diet exhibited significant weight loss and severe alopecia, unlike conventional mice on the same diet.
46 citations
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January 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Insig deficiency in the skin of mice causes cholesterol precursors to accumulate, leading to defective hair development and skin abnormalities, which were alleviated by simvastatin treatment.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.