January 2026 in “Preprints.org” In this study, researchers identified four novel variants in the FGF5 gene associated with the long-haired phenotype in dogs, suggesting additional unexplored genetic factors contribute to this trait beyond the known Lh1-Lh5 alleles.
19 citations
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November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
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.
May 2024 in “JAMA Dermatology” In this study, researchers identified genetic factors associated with frontal fibrosing alopecia, noting a protective effect of a specific CYP1B1 gene variant, which may offer insights into the disease's pathogenesis and future risk mitigation strategies.
101 citations
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November 2019 in “The Plant Cell” This study found that the zinc finger protein AtZP1 inhibits root hair initiation and elongation in Arabidopsis by suppressing key transcription factors involved in root hair development.
10 citations
,
August 2023 in “The EMBO Journal” This study explored the epigenetic mechanisms of dermal fibroblast progenitor differentiation and found that the repressive chromatin profile from H3K27me3 prevents these progenitors from reforming skin in allograft assays, despite their multipotent potential.
61 citations
,
September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
3 citations
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January 2018 in “International Journal of Trichology” The authors concluded that their new grading system can effectively classify early female pattern hair loss and evaluate treatment progress.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
13 citations
,
April 1964 in “PubMed” This study found no significant differences in phosphatide distribution between normal and cancerous mouse epidermis during different stages of growth, despite variations in total phosphatide levels.
1 citations
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November 1983 in “The Lancet” Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
September 2016 in “Journal of dermatological science” This study suggests that FGF18 may enhance radioresistance in telogen hair follicles by inducing cell cycle arrest, potentially serving as a radioprotector against radiation-induced hair follicle damage.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
17 citations
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September 2010 in “Pediatric dermatology” This report describes a case of widespread Porokeratotic eccrine and hair follicle nevus in a 15-year-old woman with keratitis-ichthyosis-deafness syndrome, involving both eccrine ostia and hair follicle infundibula.
September 2025 in “Digital Commons - RU (Rockefeller University)” This study found that when NFIB was removed in adult mouse hair follicle stem cells, it did not affect their maintenance but unexpectedly led to increased proliferation and differentiation of nearby melanocyte stem cells.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
26 citations
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December 2015 in “Journal of The European Academy of Dermatology and Venereology” This article introduces a new grading system called the FPHL Severity Index to better identify and monitor early stages of female pattern hair loss using clinical criteria.
4 citations
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June 2017 in “Anais Brasileiros De Dermatologia” This study demonstrates that miniaturized hair follicles in female pattern hair loss overexpress nuclear aryl hydrocarbon receptors, suggesting a potential role for environmental pollutants in this condition.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
1 citations
,
November 2022 in “Research Square (Research Square)” This study suggests that promoting HIF-1a expression in dermal papilla cells could enhance trichogenic gene expression, offering a potential therapeutic target for hair loss treatment.
15 citations
,
June 2011 in “British Journal of Dermatology” This study observed a potential association between the CC genotype of rs4646 and female pattern hair loss, but the authors advise caution due to lack of experiment-wide significance and recommend replication.
16 citations
,
April 2021 in “Plant Signaling & Behavior” This study found that in Arabidopsis, the MYB30-EIN3 module plays a role in adapting root hair development to phosphate deficiency, potentially enhancing phosphate uptake from soil.
July 2025 in “Journal of Investigative Dermatology” Immune system changes may contribute to female pattern hair loss.
47 citations
,
February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
43 citations
,
April 2017 in “Experimental Dermatology” This review summarizes the genetic studies on female pattern hair loss, highlighting the lack of clearly identified susceptibility loci and suggesting distinct aetiological differences from male pattern hair loss.
26 citations
,
May 2007 in “Differentiation” This study suggests that Foxn1 acts as a brake on PKC signaling in keratinocytes, thereby modulating the stages of differentiation by controlling PKC activity.
August 2024 in “Biomolecules & Therapeutics” In this study, the researchers reported that a newly developed PYGL inhibitor, HTPI, enhanced hair growth in an ex-vivo culture by reducing oxidative damage in hDPCs and inhibiting glycogen degradation in hORSCs, showing potential as a treatment for hair loss comparable to minoxidil.
37 citations
,
June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
In this study, researchers used the CRISPR/Cas9 system to edit the FGF5 gene in Dorper sheep, observing increased density and finer wool, along with changes in cortisol levels and antioxidant enzyme activity linked to hair follicle development.
32 citations
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January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.