April 2018 in “Journal of Investigative Dermatology” The study found that, unlike in actinic keratosis and squamous cell carcinoma, basal cell carcinoma tissues showed higher expression of nidogen1 and Col4 in both basement membranes and surrounding stroma compared to normal skin.
79 citations
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March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
47 citations
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November 1966 in “Archives of Dermatology” This study found that trichorrhexis nodosa, a common cause of unexplained hair loss, is primarily caused by trauma rather than a metabolic defect.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that early pigment cell markers Sox10 and c-KIT, as well as DCT/TRP-2, were detectable in melanogenically-active melanocytes of the anagen bulb in human hair follicles.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that the development of Merkel cell carcinoma from hair follicles in mice can be driven by in vivo reprogramming with ATOH1 and relies on p53 loss for progression.
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.
December 2025 in “Meditsinskiy sovet = Medical Council” This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
88 citations
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August 1998 in “Carcinogenesis” This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.
In this study, deleting the -catenin gene in vitamin D receptor-null mice did not prevent tumor development, suggesting -catenin's predicted protective role was not observed.
30 citations
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February 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the orphan protein Plet-1 is expressed in specific keratinocytes of mouse hair follicles and may regulate keratinocyte interactions with inert tissues by affecting migration and adhesion.
7 citations
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December 2019 in “Experimental and Therapeutic Medicine” This study examined the effects of WNT10B on dermal papilla cells in vitro, finding that it alters gene expression, decreases protein synthesis, and upregulates a specific signaling pathway, potentially influencing hair follicle morphogenesis.
53 citations
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July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” This case report describes a 10-year-old girl with monilethrix, detailing hereditary autosomal dominant traits and distinctive nodular hair shaft abnormalities observed in her family through clinical examination and microscopic analysis.
130 citations
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January 2000 in “Nature biotechnology”
July 2025 in “New Phytologist” This study demonstrated that the FER/MLO signaling module regulates calcium dynamics and ROS accumulation in root hair growth, with the constitutively active MLO (faNTA) able to restore normal development and signaling in specific mutant genotypes, highlighting MLO15's role in root hair tip growth regulation.
October 2014 in “Dialnet (Universidad de la Rioja)” This research concluded that Snail2's absence in myeloid progenitors promotes tumor progression in mice, and specific zinc fingers are crucial for Snail1 and Snail2's roles in establishing epithelial-to-mesenchymal transition.
10 citations
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May 2020 in “Frontiers in cell and developmental biology” In this study, researchers found that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in post-natal mice.
September 2023 in “UCrea (University of Cantabria)” In this study, researchers found that mouse digits without nails could not regenerate after amputation, highlighting the necessity of nails for fingertip regeneration and suggesting a potential role for the Lmx1b gene in this process.
7 citations
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August 2020 in “Animal biotechnology” This study found that lncRNA-599547 positively regulates the expression of the Wnt10b gene by interacting with miR-15b-5p, enhancing the inductive property of dermal papilla cells in cashmere goats.
1 citations
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April 1998 in “PubMed” This study suggested that Nexin 1, a powerful serine-protease inhibitor, may have a role in regulating hair follicle growth by influencing cellular growth and differentiation.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study identified altered mRNA and lncRNA profiles in NS scalp tissues, highlighting CDKN2AIP as a downregulated gene involved in a ceRNA network.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
This study discovered that in *Drosophila*, knockdown of specific storage proteins in adipocytes decreased germline stem cell maintenance, implicating a role for these proteins in adult tissue regulation.