January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
98 citations
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June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
85 citations
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March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
15 citations
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April 2011 in “Biological Chemistry” This study found that Cathepsin E plays a crucial role in keratinocyte terminal differentiation, affecting epidermis formation and homeostasis in mice.
2 citations
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January 2020 in “BioMed Research International” This study found that Phaeodactylum tricornutum extract enhanced hair follicle cell proliferation, indicated by increased keratin and ERK1/2 signaling, suggesting its potential for hair care applications.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
9 citations
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August 2014 in “European journal of ophthalmology” This study found that PGF 2α receptors were predominantly present in the inner root sheath of the bulb and stem of human eyelashes during the anagen phase.
10 citations
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April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
22 citations
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June 2017 in “Stem cell reports” This study found that PTEN regulates the number and genomic stability of hair follicle stem cells in the skin, with its deficiency leading to increased stem cell accumulation and senescence through interactions with BMAL1 and BMI-1.
19 citations
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June 2008 in “Journal of Investigative Dermatology” This study found that transgenic mice with expression of HPV16 E6/E7 oncogenes showed improved ear tissue regeneration, including hair follicles and cartilage, without tumor formation.
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.
94 citations
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July 2003 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that continuous expression of epidermal growth factor in transgenic mice prevented hair follicles from entering the catagen phase, implicating EGF as a crucial regulator in hair cycle progression.
7 citations
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November 1997 in “Reproduction Fertility and Development” In this study, subcutaneous injections of murine epidermal growth factor in marsupial pouch young inhibited the formation of hair follicles and associated structures, altering normal follicle development.
December 2019 in “Saintika Medika” This case report describes a rare instance of a 23-year-old woman with both Epidermolysis Bullosa Acquisita and aggressive systemic lupus erythematosus, suggesting a potential immunogenetic link through HLA-DR2.
This study in mice found that a monoclonal antibody targeting EGFR resulted in skin inflammation mediated by TNFα, suggesting potential pathways for addressing EGFR antibody-induced skin rash in cancer patients.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
7 citations
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January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
13 citations
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January 2021 in “Scientific Reports” This study found that Pannexin 3 plays a crucial role in skin development by regulating the transcription factor Epiprofin, affecting keratinocyte differentiation and hair follicle regeneration in mice.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
August 2019 in “Journal of Investigative Dermatology” This study found that tight junctions extend to the most superficial layer of the stratum granulosum in human skin, challenging previous claims of their limited presence in the epidermis.
14 citations
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February 2021 in “Experimental Dermatology” This study found that activating CB1 receptor signaling in human hair follicles increased stem cell proliferation while reducing differentiated cell survival, suggesting CB1's role as a survival stimulus for epithelial stem cells.
November 2022 in “Journal of Investigative Dermatology” This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.
8 citations
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March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
October 2025 in “Proceedings of the National Academy of Sciences” This study identifies the PI4P-RHD4 module as a key regulator of GET pathway receptor dynamics in Arabidopsis, affecting TA protein insertion and root hair growth.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that KrasG12D mutant cells are typically cleared from adult pancreas tissues through mechanisms involving the EphA2 receptor, suggesting its role as a tumor suppressor in pancreatic cancer.
May 2026 in “International Journal of Drug Delivery Technology” This case study highlights Erythromelanosis follicularis faciei et colli as an easily overlooked pigmentary disorder characterized by a distinctive triad requiring precise diagnosis for effective patient counseling and cosmetic management.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
October 2020 in “The American Journal of Gastroenterology” This case report highlights how a thorough history and examination led to the diagnosis of hereditary hemochromatosis in a patient initially suspected to have diverticulosis, improving symptoms with phlebotomy treatment.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.