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.
March 2018 in “Benha Journal of Applied Sciences” This study found that while prolactin and DHEA-S levels were higher in women with hirsutism compared to controls, there was no significant correlation between second to fourth digit ratio and hormonal profiles.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that activating the hexosamine pathway increased hyaluronic acid secretion and hair follicle stem cell numbers in vitro, suggesting its role in modulating skin homeostasis.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
53 citations
,
March 2006 in “Biopolymers” This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.
7 citations
,
January 1971 in “Archives of Dermatological Research”
20 citations
,
June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
2 citations
,
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.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
34 citations
,
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.
April 2018 in “Journal of Investigative Dermatology” This study found that dermal white adipose tissue surrounding human hair follicles enhances proliferation, pigmentation, and hair shaft elongation in an ex vivo setting.
35 citations
,
June 2011 in “British Journal of Dermatology” This study found that in an Italian population, the HLA-DQB1*03 allele was associated with increased susceptibility to alopecia areata, particularly in cases with more than 50% hair loss.
81 citations
,
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.
September 2017 in “Journal of Investigative Dermatology” This study found that hyaluronic acid increased the size and cell proliferation of mixed aggregates in a 3D culture model, indicating its role in human hair follicle germ-like structure formation without enhancing dermal papilla cell markers.
52 citations
,
October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
January 2026 in “Biomaterials”
36 citations
,
January 2019 in “Nature communications” This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.
July 2025 in “Journal of Investigative Dermatology” Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
61 citations
,
February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.
May 2021 in “Journal of Advances in Internal Medicine” This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.
This study found that hair cortisol concentrations in mother-daughter pairs are a potential biomarker for cortisol responses to chronic stress, with daughter-mother similarities affected by parenting styles and children's symptoms.
9 citations
,
October 1982 in “PubMed” 21 citations
,
May 2014 in “Toxicological Sciences” This study found that skin exposure to toluene diisocyanate in mice creates immune-recognition reservoirs in the skin's stratum corneum and hair follicles, potentially leading to sensitization and allergic reactions.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
March 2026 in “Journal of the American Academy of Dermatology” Hair diameter diversity could improve androgenetic alopecia assessment and treatment planning.
May 2025 in “Dermatology Reports” In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.
August 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article discusses how activating the hexosamine pathway may enhance skin homeostasis by increasing hyaluronic acid secretion and supporting hair follicle stem cell self-renewal, but reports no new results.