1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
25 citations
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June 2017 in “Journal of Investigative Dermatology” HPV8 causes skin cancer by expanding specific skin stem cells.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
18 citations
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February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
21 citations
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dermal EZH2 controls skin cell growth and differentiation in mice.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
315 citations
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June 2001 in “Nature Genetics” 3 citations
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January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may promote skin cancer development after UV exposure by affecting nearby cells.
PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
June 2023 in “Clinical Cosmetic and Investigational Dermatology” Pentoxifylline effectively improves pretibial pruritic papular dermatitis.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
100 citations
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May 2006 in “American Journal Of Pathology” Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.
December 2009 in “Cancer Research” Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.
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.
11 citations
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January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
Ribonucleotide excision repair is crucial to prevent skin cancer.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
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.
6 citations
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August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
23 citations
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November 2011 in “Journal of the European Academy of Dermatology and Venereology” Hair loss is a rare but recognized symptom of pemphigus vulgaris, with patients usually regrowing hair after treatment.
3 citations
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March 2025 in “Science Advances” A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
1 citations
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April 2017 in “Journal of Investigative Dermatology” ZNF750 and MPZL3 are important in causing seborrheic dermatitis.
October 2025 in “International Journal of Dermatology” JAK inhibitors may help treat certain types of hair loss, but more research is needed.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.