11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
4 citations
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January 2016 in “Methods in molecular biology” This study found that hair-follicle-associated pluripotent stem cells can promote nerve repair and growth in a 3D culture model and potentially differentiate into cardiac muscle cells, offering advantages over other stem cell types for regenerative medicine.
6 citations
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January 2018 in “Dermato-endocrinology” This study found that acanthosis nigricans in the knuckles correlates with higher insulin and HOMA-IR values, potentially serving as an early, accessible marker for insulin resistance even without excess weight.
47 citations
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October 2020 in “Communications Biology” This study found that maintaining tension-force balance in a human skin equivalent improved characteristics of skin homeostasis and structure, suggesting potential as an alternative to animal models for studying skin physiology.
40 citations
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February 1946 in “Canadian Journal of Research/Canadian journal of research” This study observed that the hair loss in homozygous rhino mice is associated with widening of the hair canal due to hyperkeratosis, leading to insufficient support for hair anchoring.
4 citations
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January 2019 in “Indian Dermatology Online Journal” This report discusses two cases of porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus, suggesting they may represent a single clinical entity, but reports no therapeutic outcomes.
June 2026 in “Scientific Reports” This study found that nestin-expressing hair follicle-derived cells express higher levels of certain neurotrophic factors and neural markers, indicating potential for neuroregenerative therapy applications.
February 1985 in “PubMed” January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
3 citations
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March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
91 citations
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March 2011 in “Stem Cell Reviews and Reports” This article describes protocols for isolating and expanding human epidermal neural crest stem cells and discusses their potential for cell-based therapies in regenerative medicine, but reports no new clinical results.
1 citations
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January 2018 in “International Journal of Trichology” This report discusses the characteristics of circle hairs, a type of body hair growth disorder, and emphasizes the value of trichoscopy for diagnosis.
62 citations
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December 1995 in “The Journal of Clinical Endocrinology & Metabolism” This study found that combining a GnRH agonist with a low-dose oral contraceptive was more effective in treating hirsutism than either agent alone and prevented hypoestrogenic side effects.
58 citations
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November 1969 in “British Journal of Dermatology” This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.
July 2026 in “Indian Journal of Dermatology Venereology and Leprology”
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” In this case report, treatment with corticosteroids improved both clinical symptoms and hormonal imbalances in a 27-year-old woman diagnosed with non-classic congenital adrenal hyperplasia.
December 1978 in “Indian Journal of Otolaryngology and Head & Neck Surgery” January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” This study identified a new mouse mutation associated with noninflammatory proliferative skin disease and hair abnormalities, drawing parallels to human conditions like Netherton's syndrome and monilethrix.
June 2021 in “International journal of research in dermatology” This case report describes a man with trichorrhexis nodosa of the beard, who experienced symptomatic improvement after being advised to shave and avoid brushing, confirming the diagnosis.
20 citations
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November 2019 in “Stem Cells” This study found that deleting the Hes1 gene disrupts hair regeneration by delaying anagen initiation and shortening the anagen phase, suggesting it's crucial for maintaining hair cycle homeostasis.
42 citations
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April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
October 2025 in “Journal of Investigative Dermatology” Hair follicle dermal stem cells help control hair growth timing by regulating signals at the hair germ–dermal papilla interface.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
87 citations
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August 1974 in “Journal of Investigative Dermatology” 16 citations
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September 2022 in “Cold Spring Harbor Perspectives in Biology” This article explores how adult mammals can regenerate hair follicles after wounding and suggests that manipulating cell signals during healing might enhance this process, but provides no new experimental results.
10 citations
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November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.