179 citations
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May 1982 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that plasma 3 alpha-diol glucuronide was markedly elevated in women with idiopathic hirsutism, suggesting it may be a marker of peripheral androgen action.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This research suggests that hair keratins evolved from claw keratins in a hairless ancestor, with Hoxc13 controlling their expression in tetrapods, evidenced by the knockout of Hoxc13 hindering claw formation in Xenopus tropicalis frogs.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
July 2024 in “International Journal of Molecular Sciences” This study explored the effects of DPP, a 15-PGDH inhibitor, on human follicle dermal papilla cells damaged by dihydrotestosterone and observed that DPP enhanced wound healing, reduced reactive oxygen species, and increased hair growth in ex vivo human hair follicle cultures.
17 citations
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August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
1 citations
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September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
1 citations
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June 2022 in “Experimental dermatology” This study found that SHJH hr mice, with a Hairless gene mutation, exhibit accelerated skin aging potentially due to poor antioxidative protection, highlighting the Hr gene's role in skin aging.
1 citations
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September 2002 in “European Journal of Endocrinology” This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.
9 citations
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October 1982 in “PubMed” 15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
September 2019 in “Journal of Investigative Dermatology” Sox13 is a new marker for early hair follicle development and differentiation.
January 2026 in “Buletin Veteriner Udayana” In this study, a female dog with ectoparasite infestation was treated for two weeks using wormectin, diphenhydramine, chlorpheniramine maleate, dexamethasone, and amoxicillin, resulting in improved symptoms such as reduced itching, closure of skin ulcers, and hair regrowth.
65 citations
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July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.
194 citations
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May 2000 in “Journal of Investigative Dermatology” This study demonstrated that blocking the Sonic hedgehog signaling pathway in mice led to reversible inhibition of body coat hair morphogenesis, while whisker development was unaffected.
May 2021 in “Journal of the Endocrine Society” This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.
December 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed that Patched receptors establish a Hedgehog signaling gradient in developing hair follicles, which may influence their formation and potentially offer a diagnostic tool for distinguishing Hedgehog-driven tumors.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
May 2026 in “Research Square” This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.
99 citations
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September 2004 in “Development” This study suggests that deregulation of sonic and desert hedgehog signaling in mouse skin can lead to altered epidermal stem cell activity and lesions similar to human basal cell carcinoma, indicating these cancers may originate outside the stem cell population.
4 citations
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February 2019 in “Breast Cancer Research and Treatment” This study found that applying a 1% sodium N-(dihydrolipoyl)-l-histidinate zinc complex lotion to the scalp did not prevent chemotherapy-induced alopecia in breast cancer patients, but it may aid recovery.
3 citations
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September 2024 in “Journal of Microbiology and Biotechnology” This study found that human placenta hydrolysate effectively inhibited atopic dermatitis development in stimulated human cells and a mouse model, suggesting its potential as a therapeutic agent for related skin diseases.
December 2023 in “Materials Today Sustainability” Scientists made glow-in-the-dark dots from human hair that can detect iron, prevent counterfeiting, and reveal fingerprints.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
January 2026 in “Biomaterials” 2 citations
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January 2009 in “Human cell culture”
In preclinical studies, topical CUR61414 reduced Hh signaling and shrank BCCs in mice, but this study found no clinical efficacy in human superficial or nodular BCCs.