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July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
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April 2010 in “Cellular Reprogramming” Pig skin cells can turn into mesodermal cells but lose their ability to become neural cells.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
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July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
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October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
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June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
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October 2023 in “Cancer Reports” Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
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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.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
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March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.