109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
59 citations
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October 2017 in “Proceedings of the National Academy of Sciences” ZIP10 is crucial for skin development and maintaining healthy skin.
49 citations
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December 2022 in “Pharmacological Reviews” Targeting androgen receptors shows promise for treating triple-negative breast cancer, but more research is needed.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
5 citations
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July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
1 citations
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January 2022 in “Journal of Biosciences and Medicines” Understanding how androgens and their receptors work can lead to improved treatments for skin diseases.
March 2026 in “Cell Death Discovery” Targeting the p63 gene could help treat skin diseases.
February 2026 in “Advanced Science” Targeting the p300/AR axis may help treat polycystic ovary syndrome.
December 2025 in “Journal of Cell Communication and Signaling” Vitamin D receptor is crucial for hair health and may help treat hair loss.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
20 citations
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March 2023 in “American Journal of Clinical Dermatology” Baricitinib improved severe hair loss in adults over 52 weeks and was safe to use.
April 2010 in “The Journal of Urology” The research found that androgens help control blood flow in the rat prostate through a specific binding site.
January 2025 in “SKIN The Journal of Cutaneous Medicine” Baricitinib significantly regrows hair in severe alopecia areata patients.
18 citations
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September 2024 in “Journal of the European Academy of Dermatology and Venereology” The DLQI is a key tool for measuring quality of life in dermatology.
June 2020 in “Jurnal Penyakit Dalam Indonesia” Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
8 citations
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September 2004 in “Contact dermatitis” Avoiding dyed wigs and clothing improved severe allergic reactions in a woman treated with diphencyprone.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
6 citations
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May 2023 in “Drugs” Baricitinib helps regrow hair in adults with severe alopecia better than a placebo and is approved for treatment, but long-term effects are still unknown.
24 citations
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June 1999 in “Mechanisms of Development” Ornithine decarboxylase is crucial for hair growth and follicle development.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
12 citations
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May 2016 in “British Journal of Dermatology” A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
72 citations
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October 1988 in “Archives of Disease in Childhood” Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
54 citations
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December 1999 in “Journal of Investigative Dermatology Symposium Proceedings”
21 citations
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November 2009 in “Dermatologic Clinics” The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
June 2018 in “The Journal of Sexual Medicine” Finasteride helps female-pattern hair loss.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.