29 citations
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
854 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
138 citations
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June 2004 in “Journal of Investigative Dermatology” Involucrin gene expression is controlled by specific proteins and signaling pathways.
143 citations
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May 2007 in “Proceedings of the National Academy of Sciences” Vitamin D receptor is crucial for normal hair growth and preventing hair loss.
79 citations
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January 2002 in “Nucleic Acids Research” BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
29 citations
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
21 citations
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
30 citations
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November 2019 in “Genetics selection evolution” Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
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September 2010 in “Cancer Prevention Research” Overactive signaling in hair follicles can lead to skin cancer.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
August 2024 in “Archives of Dermatological Research” Certain genetic variants and pathways are linked to hair loss.
277 citations
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February 2013 in “Science Signaling” Mitochondrial reactive oxygen species are essential for skin and hair development.
127 citations
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January 2008 in “PloS one” Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
90 citations
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August 2004 in “Physiological Genomics” Dermal papilla cells help skin stem cells grow into hair.
224 citations
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February 2013 in “The Journal of clinical investigation/The journal of clinical investigation” ERG increases SOX9, promoting prostate cancer growth and invasion.
29 citations
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January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.
12 citations
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January 2009 in “Stembook” Improved understanding of stem cell mechanisms can enhance skin tissue engineering.
June 2023 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Impaired ABCA5 activity disrupts cholesterol balance in hair follicle cells, affecting hair growth.
188 citations
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October 2014 in “Thyroid” Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
57 citations
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February 2006 in “Journal of Investigative Dermatology” Cylindromas likely originate from hair follicle stem cells, not sweat glands.
15 citations
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April 2017 in “Hormones” Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
12 citations
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August 2007 in “Human Molecular Genetics” Lymphotoxin-β is crucial for proper skin development in embryos.
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September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
138 citations
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June 2012 in “Genes & Development” Sonic hedgehog signaling is crucial for hair growth and maintaining hair follicle identity.