January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
54 citations
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May 1994 in “Veterinary Pathology” This study found widespread localization of parathyroid hormone-related protein in normal and cancerous canine tissues, suggesting a potential physiological role as a paracrine or autocrine factor.
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
6 citations
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January 2007 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This study found that topical application of triiodothyronine (T3) can induce the transition of hair follicles from the telogen to the anagen phase in mice and stimulate hair shaft growth in vitro.
1 citations
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March 2022 in “Journal of Dermatological Science” This study concluded that overexpressing TERT and BMI1 in cultured human dermal papilla cells extended their lifespan and enhanced their ability to induce hair growth in mice.
37 citations
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January 1993 in “Journal of Investigative Dermatology” January 2014 in “Max Planck Digital Library” This research describes mouse models to explore Kindlin-1's role in skin disorders, including Kindler syndrome, revealing novel integrin-independent pathways potentially leading to skin tumors.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that YAP1 localization and expression patterns in human skin xenografts resembled pathological conditions, suggesting that YAP1 may be a potential target for treating skin pathologies.
8 citations
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August 1987 in “The Journal of Dermatology” This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
April 2023 in “World Journal of Advanced Research and Reviews” This case report describes common thyroid disorders in a β-thalassemia patient with frequent blood transfusions, emphasizing the need for monitoring thyroid function in such patients.
October 2021 in “Journal of Investigative Dermatology” This study found that interleukin-12 signals play a role in hair follicle immune privilege collapse in ex vivo alopecia areata models, and a TYK2 inhibitor may help prevent or reverse this process.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” In this study, researchers established that increased expression of the human GLI-1 gene in mouse skin leads to the development of tumors that closely resemble human basal cell carcinomas, without requiring additional mutations in the p53 or Ha ras genes.
100 citations
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November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
January 2024 in “Doria (University of Helsinki)” This study found that in mouse pancreatic β-cells, the disruption of keratin filaments due to a specific mutation in keratin 18 resulted in altered GLUT2 localization, with less GLUT2 present on the plasma membrane compared to cells with normal keratin.
35 citations
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February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
11 citations
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November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
5 citations
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August 2021 in “Experimental dermatology” This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.
April 2023 in “Zenodo (CERN European Organization for Nuclear Research)” In this report, a 35-year-old patient with beta thalassemia experienced thyroid dysfunction following repeated blood transfusions, highlighting that such disorders are common among transfused thalassemia patients.
2 citations
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January 1993 This study found that human trichohyalin has a unique protein sequence potentially contributing to at least three important functions in hair follicle and epidermal cells.
This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.
98 citations
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December 2003 in “The FASEB Journal” In this study, thymosin beta4 was found to stimulate hair growth in normal rats and mice by affecting key processes in the hair follicle cycle, such as stem cell migration and extracellular matrix remodeling.
12 citations
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February 2010 in “Journal of the European Academy of Dermatology and Venereology” Some people with chronic hair loss may have thyroid autoimmunity.
14 citations
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January 2011 in “The International Journal of Developmental Biology” This study showed that coexpression of TG2 and Gbx1 in the epidermis is necessary for esophagus-like mucosal transdifferentiation, with TGF-beta2 in the dermis essential for the process through epithelial-mesenchymal interaction.
11 citations
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September 2011 in “Biochemical journal” This study found that neurotrophin-4 regulates Cav3.2 T-current expression in D-hair neurons via TrkB receptor activation, highlighting its role in mechanosensitive function.
62 citations
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January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Pik3r1 Y657* mice, which model human SHORT syndrome, show increased energy expenditure despite insulin resistance, but this is not due to changes in locomotion, thermoregulation, or Ucp1-dependent thermogenesis, suggesting a different metabolic mechanism may protect against lipotoxicity.
August 2019 in “Journal of Dermatology” This article is a letter to the editor discussing a rare case of Leydig cell tumor with type I diabetes mellitus causing female pattern hair loss, but it contains no abstract or new clinical findings.
31 citations
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February 2007 in “Molecular Carcinogenesis” This study found that transgenic mice overexpressing human ATF3 showed hyperplastic and dysplastic changes in epithelial tissues, with a high incidence of oral cancer, suggesting potential oncogenic properties of ATF3.