Mutations in specific genes cause different types of ectodermal dysplasias.
60 citations
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
April 2026 in “Cellular and Molecular Immunology” SPT6 prevents excessive skin inflammation by blocking a feedback loop.
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March 2007 in “Developmental biology” The study found that the protein Dkk4 helps regulate hair growth by controlling Wnt signaling in mice.
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
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March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
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September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
March 2026 in “The Journal of Steroid Biochemistry and Molecular Biology” Deleting vitamin D and calcium receptors in skin cells increases skin cancer risk by reducing DNA repair and stress response.
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February 2014 in “Journal of Investigative Dermatology” NF-κB activity is crucial for keeping hair in the growth phase.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
October 2022 in “Benha Journal of Applied Sciences” People with non-scarring hair loss have higher levels of DKK-1, a protein linked to hair growth, than those with scarring hair loss or no hair loss.
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October 2001 in “Experimental Dermatology” The nude gene is important for skin and hair development.
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July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
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October 2006 in “Journal of Cell Science” Keratin 10 end domains may increase skin cancer risk by reducing cell death.
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
April 2023 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” K6hf is a unique protein found only in a specific layer of hair follicles.
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
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April 2016 in “Journal of lipid research” Lipin-1 is important for skin cell differentiation and skin barrier function.
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
July 2024 in “Natural Product Research” Nk-EE may help treat hair loss by promoting hair growth and preventing hair follicle damage.