June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
9 citations
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January 2017 in “Virchows Archiv” This study documented distinct expression patterns of stem cell markers LGR5 and LGR6 in various human skin tumors, highlighting differences in their potential roles and contributions to tumor development.
January 2024 in “Hair transplant forum international” This source describes the American Board of Hair Restoration Surgery's mission to set standards and evaluate skills in hair restoration surgery, but does not report any specific study results.
August 2025 in “Biomedicines” In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
52 citations
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May 2003 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that overexpression of parathyroid hormone-related protein in mice resulted in 30–40% shorter hair due to premature transition into the catagen phase of the hair cycle.
16 citations
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December 2019 in “Animals” In this study, cashmere goats engineered to overexpress the Tβ4 gene in hair follicles produced more cashmere, indicating that Tβ4 promotes secondary hair follicle development and enhances yield.
17 citations
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April 2016 in “Journal of Investigative Dermatology” This study found that the synthetic thyroid hormone receptor modulator KB2115 significantly prolonged the growth phase of human hair follicles in culture without altering mitochondrial activity, suggesting potential as a safer hair loss treatment compared to traditional thyroid hormones.
April 2026 in “Journal of Cutaneous Pathology” This case report describes the first known instance of alopecia associated with multicentric reticulohistiocytosis, evidenced by scalp biopsy findings of histiocyte infiltration in a 52-year-old woman.
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.
April 2023 in “Journal of Investigative Dermatology” This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.
50 citations
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December 2005 in “European Journal of Immunology” This study found that a specific mutation in the mouse RXRalpha gene significantly impacts immune responses and causes hair loss and skin cysts.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
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.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
66 citations
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February 2013 in “PeerJ” This study found that CB1 activation by a specific agonist led to decreased expression of keratins K6 and K16 in human skin and inhibited keratinocyte proliferation, suggesting potential for cannabinoid receptors in psoriasis management.
70 citations
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December 2008 in “Cancer Research” This study found that activating CXCR2 on ras-transformed keratinocytes promotes migration and tumor development in a mouse skin model.
11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
7 citations
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July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
18 citations
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June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
248 citations
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December 2011 in “Journal of Neuroscience” This study demonstrated that stress-derived neurosteroid THDOC shifts from inhibiting to activating the HPA axis under stress, presenting potential therapeutic targets for stress-related disorders.
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.
37 citations
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April 2013 in “PLoS ONE” In this study, the researchers found that thymosin beta-4 promotes odontoblastic differentiation in human dental pulp cells, suggesting it as a potential mechanism for regenerative endodontics.
56 citations
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November 1993 in “Journal of The American Academy of Dermatology” Capsaicin cream quickly relieved itching in two patients with brachioradial pruritus.
56 citations
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December 2002 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that in human osteoblast-like cells, the 5alpha-reductase type 1 isozyme predominantly catalyzes the conversion of testosterone to DHT, which may play a role in bone homeostasis.
2 citations
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August 2024 in “Molecular Genetics & Genomic Medicine” In this case study, an 8-day-old neonate with holocarboxylase synthetase deficiency showed dramatic improvement in lactic acidosis and overall clinical condition following biotin mega-dose therapy, highlighting the importance of early genetic testing and timely treatment in such metabolic disorders.
11 citations
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May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
January 2005 in “Australian viticulture” This study found that different bovine epithelial tissues express varying types of cytokeratins, with hair follicle and nasolabial gland expressing both acidic and basic types, while others express only one or the other.