September 2009 in “Annales D Endocrinologie” This article reviews the clinical signs, diagnostic approaches, and treatment options for hyperandrogenism in women, focusing on hirsutism and specifies that cyproterone acetate is effective for severe cases, but reports no new clinical results.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
1 citations
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December 2024 in “Methods in molecular biology” This study described a method using sodium dodecanoate and high levels of reductant to process hair shaft proteomes, allowing analysis of genetic, developmental, and forensic information beneficial to various scientific fields.
31 citations
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November 2009 in “European journal of dermatology/EJD. European journal of dermatology” This paper presents a consensus-driven diagnostic evaluation form for assessing hirsutism in premenopausal women, developed by The Skin Academy for use in clinical practice.
August 2009 in “Mechanisms of Development” 18 citations
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November 2005 in “Archives of Dermatological Research”
2 citations
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January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
28 citations
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October 1985 in “The Journal of Cell Biology” This study identified two types of hard alpha-keratin filament assemblies in developing human hair follicles, which may help investigate the structural framework of mammalian keratin appendages.
21 citations
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January 1995 in “Molecular Biology Reports” This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
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.
October 2025 in “Journal of the Endocrine Society” In this case study, a 62-year-old woman with ovarian hyperthecosis experienced normalization of elevated testosterone levels and improvement in hirsutism and hair loss following bilateral salpingo-oophorectomy.
March 1997 in “The Lancet” Hirsutism is abnormal male-pattern hair growth in females due to excess androgens.
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.
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.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
46 citations
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June 2013 in “Journal of structural biology” This study suggests that the mechanical robustness of hair may be enhanced by the binding interactions of keratin-associated proteins, particularly KAP8.1, with intermediate filament proteins.
15 citations
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June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
53 citations
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September 1999 in “Journal of Synchrotron Radiation” This study shows that microdiffraction experiments reveal structural layers in keratinous tissues, each with different keratin types, potentially explaining their dual role as mechanical support and chemical barriers.
1 citations
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April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed significant differences in the skin microbiome between hidradenitis suppurativa patients and healthy individuals, notably with decreased β-diversity and a distinct abundance of certain bacteria in affected skin.
July 2021 in “Zurich Open Repository and Archive (University of Zurich)” This study provided new insights into the complex and heterogeneous architecture of keratin filaments, revealing their dynamic and flexible structure through cryo-electron microscopy analysis.
19 citations
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March 2018 in “Journal of Investigative Dermatology” This study indicates that transient Msx2 expression is critical for wound-induced hair follicle neogenesis, with distinct phases in the healing process essential for epidermal competence and hair regeneration.
74 citations
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October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
This article discusses solitary hirsutism, emphasizing that treatment is mostly cosmetic unless contraception is also desired, and reports no new clinical results.
September 1997 in “Clinical and Experimental Dermatology” This study found a significant negative correlation between adrenal hormone DHEAS levels and ovarian volume in Greek women with polycystic ovary syndrome, though further clinical research is needed to confirm these results.
June 2026 in “Communications Biology” In this study, researchers found that the cornification process in the nuptial pads of Xenopus frogs involves the expression of the type II hair keratin homolog, krt59, and is regulated by the transcription factor hoxc13, showing similarities to mammalian hair evolution.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
28 citations
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November 2009 in “Journal of Structural Biology” This study found that the molecular structure of hair is more sensitive to synchrotron X-ray radiation than its supramolecular architecture, indicating potential concerns for biological analyses using such radiation.
40 citations
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September 2010 in “Journal of Biological Chemistry” This study found that keratin K80, structurally similar to hair keratins, is broadly expressed in various epithelial tissues and is involved in intermediate filament formation with multiple type I partners.
4 citations
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January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.