63 citations
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April 2005 in “Mechanisms of development” This study found that heterozygous mice overexpressing Claudin-6 experienced alterations in epidermal and hair follicle differentiation, leading to distinctive coat characteristics and a disrupted epidermal permeability barrier.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
21 citations
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December 2006 in “Archives of dermatology” This abstract contains no research findings and pertains only to website navigation and policies.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
9 citations
,
September 2018 in “JAAD Case Reports” This article describes a unique case of lichen planopilaris with a previously unreported trigger in one of the youngest documented adult patients, without providing new clinical results or data.
1 citations
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April 2016 in “Actas Dermo-Sifiliográficas” Wearing a wig caused a woman's skin condition to worsen due to pressure from the wig's fasteners.
30 citations
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October 1999 in “Differentiation” This study found that expression of certain mutant keratin genes in mice led to severe alopecia, suggesting a similar mechanism could cause hair loss in humans.
4 citations
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May 2024 in “Experimental Dermatology” This study reviews the role of the KIT ligand and receptor pathway in managing melanocyte and mast cell-related skin diseases, examining how its regulation can lead to potential therapies for conditions like vitiligo, melanoma, and mastocytosis. Results are not reported.
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.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
September 2024 in “Portuguese Journal of Dermatology and Venereology” This review discusses central centrifugal cicatricial alopecia, its similarities to lichen planopilaris, and emphasizes the need for further research due to its underdiagnosis and impact on African-descended women.
6 citations
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September 2018 in “Journal of Dermatological Treatment” This review examines the FDA's 510(k) approval process for low-level laser therapy devices used in treating androgenetic alopecia and reports no new clinical findings.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
January 2020 in “Medical journal of clinical trials & case studies” This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.
7 citations
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June 2009 in “Journal of the European Academy of Dermatology and Venereology” This study found that in lichen planopilaris, the basement membrane zone of the hair follicles exhibited disrupted and discontinuous staining patterns, potentially contributing to scarring and irreversible hair loss.
This case study reports that a 35-year-old woman developed nonscarring alopecia following the cosmetic use of poly-L-lactic acid on her face and hairline.
2 citations
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November 2022 in “Skin research and technology” This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
169 citations
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May 2006 in “Genes & Development” This study found that keratin 17 and TNFα play interdependent roles in regulating hair follicle cycling, with TNFα required for the anagen–catagen transition and its ablation partially rescuing hair cycling defects in K17-null mice.
April 2019 in “Journal of Investigative Dermatology” In this report, the potential connection between Merkel cell carcinoma and Curvularia lunata infection in an elderly patient is discussed, highlighting the need for precise diagnostic methods and suggesting that surgery combined with the antifungal voriconazole may be a viable treatment option.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
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.
January 2026 in “Current Issues in Molecular Biology” This paper reviews the emerging role of FGF-7 signaling in hair regeneration, highlighting its potential as a target for new therapies despite limited clinical trial data.
January 2010 in “Acta Laboratorium Animalis Scientia Sinica” This research reports that the ultra-high sulfur keratin promoter acts as a tissue-specific promoter in mouse hair follicles, as shown by induced expression of GFP and β-gal in that region post-transfection.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
6 citations
,
January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
4 citations
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May 2007 in “Journal of Dispersion Science and Technology” This study found that hinokitiol in cationic vesicles promoted hair growth in mice, potentially due to its high substantivity on the skin.