The vitamin D receptor has many roles in the body beyond managing calcium, affecting the immune system, hair growth, muscles, fat, bone marrow, and cancer cells.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” Inhibitors of 11β-HSD1 show potential for treating type 2 diabetes but require more testing for safety and effectiveness.
January 2011 in “Medical Recapitulate” 5α-reductase enzyme affects hormone levels, influencing conditions like acne and hair loss.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
May 2021 in “The FASEB Journal” The research gives new understanding on how human steroid 5α-reductases work and how drugs like finasteride inhibit them, which could help in creating new drugs.
11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
29 citations
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December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
September 2025 in “Radboud University Press eBooks” AHR ligands could treat inflammatory skin diseases.
2 citations
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January 2014 in “Elsevier eBooks” The document concludes that reactivation of herpesviruses, especially HHV-6, is linked to severe symptoms and complications in drug-induced hypersensitivity syndrome.
1 citations
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January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
34 citations
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October 1975 in “Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis” 5 citations
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August 2021 in “Frontiers in Cell and Developmental Biology” DHEA boosts bone cell growth and differentiation in elderly stem cells.
271 citations
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September 2008 in “Nutrition reviews” Vitamin D receptor interacts with certain dietary components to help prevent diseases and regulate hair growth.
45 citations
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September 1998 in “Journal of Investigative Dermatology” The enzyme 17β-HSD type 2 mainly performs oxidation in human sebaceous glands, which may help protect against acne.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
12 citations
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September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.
86 citations
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June 1998 in “Journal of Investigative Dermatology” The hairless gene mutation causes baldness by disrupting hair follicle structure.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
Mutations in specific genes cause different types of ectodermal dysplasias.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
Blocking 11β-HSD1 reduces stress hormone damage in hair growth cells.
45 citations
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March 1997 in “Journal of Investigative Dermatology”