81 citations
,
February 2014 in “EMBO molecular medicine” Activating Nrf2 in skin cells causes skin disease similar to chloracne in mice.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
25 citations
,
July 1991 in “International Journal of Dermatology” Toxic Epidermal Necrolysis is a rare, serious skin condition that can affect anyone, is more common in women, and may be linked to genetics, with a 20% mortality rate mainly due to sepsis.
297 citations
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January 2002 in “Development” Overexpression of ΔNLef1 in mouse skin leads to hair loss, cysts, and skin tumors.
15 citations
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February 2020 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is crucial for healthy skin barrier function.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
125 citations
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February 2007 in “The EMBO Journal” Fgfr2b helps maintain healthy skin and prevent cancer.
13 citations
,
October 2000 in “International Journal of Dermatology” A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
8 citations
,
February 2005 in “Veterinary dermatology” Chesapeake Bay retrievers' hair loss is likely a breed-specific, hereditary condition linked to abnormal steroid levels and distinct skin changes.
1 citations
,
March 2023 in “International Journal of Health and Pharmaceutical Medicine” Impaired skin barrier function worsens acne.
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
January 2016 in “Journal of Investigative Dermatology” Some cells may slow melanoma growth, a protein could affect skin pigmentation, a gene-silencing method might treat hair defects, skin bacteria changes likely result from eczema, and a defensin protein could help treat multiple sclerosis.
50 citations
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April 2014 in “Nature Communications” The research identified new skin traits in mice, some linked to human skin conditions.
18 citations
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April 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
January 2025 in “PLoS ONE” Elf5 controls skin cell growth and development, making it a potential target for skin treatments.
69 citations
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May 1997 in “Veterinary Pathology” The angora mouse mutation causes long hair and hair defects due to a gene deletion.
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.
132 citations
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April 2005 in “Gastroenterology” A gluten-free diet significantly improves skin and health issues in people with dermatitis herpetiformis, a skin condition linked to celiac disease.
125 citations
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August 2003 in “Development” Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
97 citations
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June 2013 in “Journal of Dermatological Science” Understanding EGFR's role in skin is crucial for better treatments and managing side effects.
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.
30 citations
,
June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
22 citations
,
September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” The gene causing hair loss and heart issues in rough coat mice is still unknown.
13 citations
,
November 2012 in “Journal of The European Academy of Dermatology and Venereology” Certain factors like allergies, nail problems, and hair loss patterns can predict how well someone with patchy hair loss will respond to skin cream treatments.
11 citations
,
July 2019 in “International journal of women’s dermatology” Certain skin conditions in women are linked to higher risks of metabolic syndrome and type 2 diabetes due to hormone imbalances.
7 citations
,
October 2024 in “Cells” Autophagy is essential for proper skin cell development and function.