June 2025 in “Biomolecules” In this study, researchers found that activating RORA in hair follicle stem cells reduced the expression of cytoskeleton-related genes, affecting cell migration and adhesion, which may aid in understanding hair follicle development and potentially inform alopecia treatments.
19 citations
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July 2020 in “EBioMedicine” In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.
153 citations
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April 1998 in “Current Biology” This study found that benign tumors with a high risk of malignant progression primarily arise from hair follicle cells when a mutant ras gene is expressed in a specific population of epidermal cells in mice.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
May 2023 in “Frontiers in Endocrinology” This study found that tildacerfont treatment in males with congenital adrenal hyperplasia reduced androgen levels and improved markers of testicular function, suggesting potential benefits for male reproductive health.
8 citations
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January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
May 2012 in “F1000Research” This research consisted of a Phase I/II study on androgenetic alopecia where male participants received intradermal injections of HSC, with hair growth efficacy assessed through Trichoscan imaging, although no new clinical results are reported.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
December 2010 in “TSpace” In this study, selective overexpression of androgen receptors in muscle cells increased lean muscle mass and reduced fat mass in transgenic rodents, suggesting a potential target for drug development.
July 2012 in “European journal of cancer” This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.
5 citations
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April 2014 in “International Journal of Pediatric Endocrinology” This study concluded that prepubertal girls with hypertrichosis have androgen receptors with enhanced sensitivity, which may contribute to their increased body hair growth.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that local PGE2 injection may prevent radiotherapy-induced hair loss by protecting hair follicle cells and promoting hair follicle self-repair.
In this study, introducing the rat OTC gene into spf-ash mice led to increased OTC activity and normalized hair growth and biochemical markers like urinary orotic acid and serum citrulline, partially correcting the symptoms of OTC deficiency.
9 citations
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May 2019 in “Experimental Cell Research” This study found that Hedgehog signaling likely contributes to cervical carcinogenesis, and while itraconazole reduced growth in mice, it did so through pathways other than inhibiting Hedgehog signaling.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
24 citations
,
March 2016 in “Journal of Investigative Dermatology” This study suggests that TIP39 and its receptor PTH2R, identified in human epidermis, may play a role in keratinocyte function and influence skin differentiation.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that in an ex vivo setting, 17β-estradiol increased CB1 expression in human hair follicles, suggesting possible sensitivity to endocannabinoids and a potential mechanism for hair therapy.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that impaired Nrf2 signaling and its relationship with keratin 16 may contribute to follicular hyperkeratinization and occlusion in hidradenitis suppurativa, opening new therapeutic avenues.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
5 citations
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August 2021 in “Experimental dermatology” This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.
24 citations
,
September 2014 in “PloS one” This study demonstrated that thyroid hormone receptors play a crucial role in hair growth and skin health, as mice lacking these receptors showed impaired hair cycling and wound healing.
6 citations
,
July 2017 in “Biochemical and Biophysical Research Communications” This study found that mutations in the hairless gene disrupt normal hair follicle development by impairing Wnt/β-catenin signaling, affecting hair keratinocyte differentiation in both mice and humans.
8 citations
,
December 2017 in “Small Ruminant Research” This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.
7 citations
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July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
45 citations
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August 2010 in “Hormone Molecular Biology and Clinical Investigation” This study found that SRD5a-3 is a highly efficient enzyme for converting hormones into androgens, with dutasteride being a much more potent inhibitor of SRD5a-3 than SRD5a-2.
92 citations
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June 2005 in “Journal of Investigative Dermatology” This study found that the retinoid all-trans retinoic acid induced a catagen-like stage in human scalp hair follicles, suggesting upregulation of TGF-beta2 as a contributing mechanism.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
9 citations
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July 2011 in “Scientific Reports” This study suggests that human evolution involved accelerated changes in the HR gene, affecting its role in mediating postnatal hair cycling.
November 2022 in “Journal of Investigative Dermatology” This study found that human scalp hair follicles produce neurohormones and responded to GHRH stimulation by prolonging hair growth, suggesting a functional peripheral HPS neuroendocrine signaling axis in the skin.