6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
32 citations
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June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
52 citations
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February 2012 in “PloS one” Lack of Ctip2 in skin cells delays wound healing and disrupts hair follicle stem cell markers in mice.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
December 2025 in “Cureus” Localized dystrophic epidermolysis bullosa (DEB) can lead to scarring alopecia, highlighting the need to recognize and address this complication.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
6 citations
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September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
April 2025 in “Dermatology Practical & Conceptual” Biopsy is crucial for accurately diagnosing EPDS to avoid mistaking it for SCC.
January 2026 in “MDPI (MDPI AG)” The hairy ear mutation in mice is linked to changes in gene expression affecting hair growth.
12 citations
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July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
8 citations
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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.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
2 citations
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July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
March 2024 in “BMC cancer” High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
1 citations
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December 2014 in “Zenodo (CERN European Organization for Nuclear Research)” The method effectively induces skin cancer in mice for studying tumor development.
8 citations
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January 2019 in “JAAD Case Reports” EPDS can cause recurring scalp sores and hair loss if not treated.
64 citations
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
September 2024 in “Journal of Cosmetic Dermatology” Ectoin helps prevent cortisone-induced skin problems and supports skin health.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
29 citations
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November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
2 citations
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November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.