66 citations
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February 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that adenosine increases FGF-7 expression in dermal papilla cells, which may stimulate hair growth via the A2b adenosine receptor and cAMP pathway.
69 citations
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May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
April 2025 in “PharmacoEconomics - Open” This study observed that patients with AA showed a high willingness to trade off lifespan for better disease-specific quality of life, indicating a significant disease burden.
July 2026 in “Journal of the American Academy of Dermatology” July 2024 in “Journal of Investigative Dermatology” This study found that in mice with alopecia areata, CD8+ T cells showed clonal expansion and specific regulatory networks, which might help identify new therapeutic targets for patients not responding to JAK inhibitors.
7 citations
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June 2018 in “Journal of the American Academy of Dermatology” This article reviews uncombable hair syndrome, highlighting its symptoms, potential diagnosis methods, and the suggestion for biotin supplements, but it reports no new empirical results.
10 citations
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August 2021 in “Cosmetics” This study identified an optimal sulfate-free and silicone-free conditioning shampoo formulation using 1% hyaluronic acid at 800 kDa, 10% acidic sophorolipid, and 1% sodium chloride, which maintains essential conditioning and cleansing properties without compromising on performance.
2 citations
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March 2024 in “Pediatric Dermatology” This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
In this study, a newly designed protein degrader targeting androgen receptors showed promise in reversing hair regrowth inhibition in a mouse model of androgenetic alopecia, suggesting potential as a novel and safe treatment strategy.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
November 2022 in “Journal of Investigative Dermatology” This study found that stimulating the olfactory receptor OR2A4/7 with cyclohexyl salicylate promoted human hair growth and increased progeny of hair follicle epithelial stem cells in an ex vivo setting.
8 citations
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October 2019 in “Immunological investigations” This study suggests that the rs2075876 variant in the AIRE gene may significantly increase susceptibility to alopecia areata in the examined male population.
42 citations
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February 2000 in “Journal of Investigative Dermatology” This study found that Gelatinase A activity is linked to the absence of type VII collagen during human fetal skin development, indicating its role in remodeling the basement membrane zone.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
7 citations
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April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
August 2022 in “Precision Clinical Medicine” This study found that the 3' UTR of JAM-A acts as a key competing endogenous RNA that supports dermal papilla cell function and hair follicle regeneration in alopecia areata.
24 citations
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February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
26 citations
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September 2009 in “Clinical genetics” This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the E6 gene, but not E7, was responsible for HPV8-induced expansion of keratinocyte stem cells in hair follicle junctional zones in mice.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
2 citations
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January 2013 in “International Journal of Dermatology” ALDOA levels drop in hair cells during hair loss.
November 2024 in “Image Analysis & Stereology” This study introduced a novel, weakly supervised method for segmenting hair in Scanning Electron Microscope images using simple image-level annotations, achieving over 30% improvement in mean Hausdorff Distance compared to Unet and SAM, while enhancing interpretability and refinement.
May 2026 in “Stem Cell Research & Therapy” In this study, researchers identified KRT6A as a potentially important gene in mesenchymal stem cell-derived treatments for alopecia areata, revealing its role as a diagnostic marker, predictor of disease severity, and a protective factor, with overexpression alleviating hair loss in experimental models.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
25 citations
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November 2022 in “British journal of dermatology/British journal of dermatology, Supplement” In this analysis, safety data from two clinical trials showed that baricitinib for severe alopecia areata had predictable side effects like infections and elevated CPK, with some serious adverse events noted at low incidence rates; no deaths were reported.
1 citations
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November 2023 in “Journal of Investigative Dermatology” Farudodstat may effectively treat alopecia areata without harming hair follicles.