188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
180 citations
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January 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D Receptor is crucial for normal skin and hair growth.
92 citations
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July 2001 in “The FASEB Journal” Overexpressing the glucocorticoid receptor in mice leads to abnormal skin development and reduced inflammation.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
61 citations
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January 2011 in “PloS one” Notch signaling is essential for healthy skin and hair follicle maintenance.
41 citations
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September 2003 in “Journal of Investigative Dermatology” Overexpression of COX-2 causes early hair loss in mice, but can be prevented with a COX-2 inhibitor.
22 citations
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September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
7 citations
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October 2024 in “Cells” Autophagy is essential for proper skin cell development and function.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
2 citations
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April 2010 in “Cancer Research” Removing EGFR in skin causes inflammation and abnormal hair growth.
1 citations
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September 2024 in “Veterinary Dermatology” Trichography is important for diagnosing hair fragility in Pomeranian dogs with hair cycle issues.
1 citations
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August 2023 in “Journal of cosmetic dermatology (Print)” Too much selenium can cause hair loss and nail problems.
1 citations
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May 2015 in “Experimental Dermatology” Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
April 2026 in “Clinical Dermatology Review” Keratosis pilaris significantly affects quality of life and shows specific skin changes.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
January 2009 in “한국피부장벽학회지” Calcium is crucial for skin development and healing.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
163 citations
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October 2001 in “EMBO journal” Overexpressing follistatin in mice delays wound healing and reduces scar size.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
22 citations
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January 2009 in “Advances in experimental medicine and biology” FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
8 citations
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March 2023 in “British Journal of Dermatology” Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
6 citations
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October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
166 citations
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July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
132 citations
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August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
94 citations
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July 2003 in “Journal of biological chemistry/The Journal of biological chemistry” EGF controls hair growth by regulating hair follicles' growth phases.
56 citations
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March 2015 in “Journal of Investigative Dermatology” Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.