11 citations
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January 1997 in “Journal of Dermatological Science” This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.
130 citations
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April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
127 citations
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July 2002 in “EMBO journal” This study found that RXRα/RARγ heterodimers are necessary for retinoic acid-induced keratinocyte proliferation in the skin, while normal epidermal maintenance does not require RAR-mediated signaling.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
September 2001 in “Swiss Medical Forum ‒ Schweizerisches Medizin-Forum” 3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
This study identified the combination of NCBP3, SDHA, and PTPRA as stable reference genes for normalizing gene expression in goat skin tissue research.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
7 citations
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January 2013 in “Indian dermatology online journal” This report describes a rare case of a three-day-old male with ichthyosis hystrix type of epidermal nevus, featuring specific skin and hair symptoms but no nail or skeletal abnormalities.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
February 2013 in “Archives of Disease in Childhood Education & Practice” This text describes kerion, a severe form of tinea capitis, and emphasizes the difficulty of diagnosis and the need for oral antifungal treatment, but reports no new clinical results.
October 1995 in “Pediatric Research” 1 citations
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November 2012 in “European Journal of Cell Biology” The authors clarified data overlap and corrected a figure error, apologizing for any confusion.
2 citations
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May 2022 in “International Journal of Trichology” This study identified 43 patients with psoriasiform skin reactions associated with Brazilian Keratin Treatment, suggesting this adverse effect may be underdiagnosed and important to recognize through clinical and dermatoscopic features.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
28 citations
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November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
65 citations
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September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
October 2025 in “Journal of the Endocrine Society” This case report describes a 35-year-old woman with a Rathke’s cleft cyst presenting with Cushing disease, highlighting the need to evaluate hormonal hypersecretion in atypical pituitary lesions.
17 citations
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February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
June 2026 in “Communications Biology” In this study, researchers found that the cornification process in the nuptial pads of Xenopus frogs involves the expression of the type II hair keratin homolog, krt59, and is regulated by the transcription factor hoxc13, showing similarities to mammalian hair evolution.
January 2025 in “International Journal of Trichology” This case report documents a rare instance of body-focused repetitive behavior in a 37-year-old male physician who compulsively pulled hair from his thighs due to exam stress, highlighting the variability in presentation and demographics of such disorders and the potential for psychiatric comorbidity.
88 citations
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March 2004 in “Journal of Investigative Dermatology” 23 citations
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January 2018 in “Biological and Pharmaceutical Bulletin” In this study, YK11 was found to promote osteoblast cell proliferation and differentiation through activation of non-genomic signaling pathways in mouse osteoblast cells.
3 citations
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October 2024 in “International Journal of Molecular Sciences” This study found that subthermal CRET treatment increased keratinocyte proliferation and modulated cytokine production, affecting the inflammatory response in human keratinocytes through EGFR and ERK1/2/NF-κB pathways.
April 2018 in “Journal of Investigative Dermatology” This study found that Basonuclin 1 knockdown in human primary keratinocytes significantly reduces cell proliferation and affects migration, indicating its role in coordinating the re-epithelization phase of wound healing.