18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
30 citations
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June 2014 in “Seminars in Immunology” Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
Understanding genetics is crucial for treating heart and skin diseases.
January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
36 citations
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July 2007 in “Journal of Investigative Dermatology” Certain HLA class II alleles increase or decrease the risk of alopecia areata.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
1 citations
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October 2022 in “JCI insight” Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
November 2025 in “Biomedicines” JAK1 inhibitors can help reduce itchiness in atopic dermatitis.
20 citations
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October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
1 citations
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July 2023 in “Communications biology” Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
12 citations
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September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
19 citations
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September 2011 in “Journal of Dermatological Science” TGF-β1 increases androgen receptor activity in hair loss, but Hic-5/ARA55 can counter this effect.
5 citations
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June 2008 in “British Journal of Dermatology”
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” BMAL1 controls skin cell growth and UV damage risk, peaking at night.
1 citations
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October 2013 in “Our Dermatology Online” 5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.
4 citations
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February 2023 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
35 citations
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January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” CD98hc's role in skin health decreases with age.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
July 2024 in “Research Square (Research Square)” SIRT3 and SIRT7 decrease, while NFATC1 and PDL-1 increase in Androgenetic Alopecia.
42 citations
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May 1997 in “The Journal of Biochemistry” PAD type III enzyme is specific to rat skin and hair follicles.
June 2024 in “Benha Journal of Applied Sciences” β1 integrin may indicate and influence the severity of hair loss in androgenetic alopecia.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.