188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
153 citations
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June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
136 citations
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July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
135 citations
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March 2000 in “Journal of Biological Chemistry” Agouti and AGRP affect pigmentation and obesity, with implications for metabolic disorders.
91 citations
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August 2019 in “Frontiers in Microbiology” RpoS helps Borrelia burgdorferi survive in hosts and adapt to different environments.
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April 2023 in “Forensic Science International Genetics” Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
89 citations
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March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
75 citations
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
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August 2006 in “Cancer Research” AP-1 controls tumor cell type by affecting key signaling pathways.