ArticleThe Journal of investigative dermatology2021
Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes.
Article in The Journal of investigative dermatology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- Association of TRPV3 gene polymorphisms with wool production traits in Zhexi Angora rabbits.Molecular genetics and genomics : MGG · 2026Article
- TRPV4 Activation Promotes Hair Growth via TSLP Signaling in the Skin.Biomolecules & therapeutics · 2026Article
- Dynamic epigenetic and transcriptomic reprogramming during embryonic skin development in goose (Anser anser domesticus).Functional & integrative genomics · 2026Article
- 5'tiRNA-Glu-TTC targets TRPV3 and activates the PI3K/AKT signaling pathway to modulate skin photoaging.Non-coding RNA research · 2025Article
- Repositioning Fluoxetine as a TRPV3 Channel Inhibitor to Alleviate Skin Inflammation and Pruritus.Current issues in molecular biology · 2025Article
- Plant essential oil targets TRPV3 for skin renewal and structural mechanism of action.Nature communications · 2025Article
- Protective Effects of Korean Red Ginseng Against Oxidative Stress-Induced Damage in Human Hair.Annals of dermatology · 2025Article
- Role of TRP Channels in Cancer-Induced Bone Pain.International journal of molecular sciences · 2025Review
- Advances in the Study for Modulators of Transient Receptor Potential Vanilloid (TRPV) Channel Family.Current topics in medicinal chemistry · 2025Review
- Integration Analysis of Transcriptome Sequencing and Whole-Genome Resequencing Reveal Wool Quality-Associated Key Genes in Zhexi Angora Rabbits.Veterinary sciences · 2024Article
- Latest Insights into the In Vivo Studies in Murine Regarding the Role of TRP Channels in Wound Healing-A Review.International journal of molecular sciences · 2024Review
- Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype.BMC genomics · 2024Article
- Pathogenesis and management ofFrontiers in genetics · 2024Review
- The Effect of Osthole on Transient Receptor Potential Channels: A Possible Alternative Therapy for Atopic Dermatitis.Journal of inflammation research · 2024Article
- Involvement of skin TRPV3 in temperature detection regulated by TMEM79 in mice.Nature communications · 2023Article
- TRPV3 Ion Channel: From Gene to Pharmacology.International journal of molecular sciences · 2023Review
- Novel Insights into the Role of Keratinocytes-Expressed TRPV3 in the Skin.Biomolecules · 2023Review
- Medical care of rare and undiagnosed diseases: Prospects and challenges.Fundamental research · 2022Review
- Abnormal Somatosensory Behaviors Associated With a Gain-of-Function Mutation in TRPV3 Channels.Frontiers in molecular neuroscience · 2021Article
- Th2 Modulation of Transient Receptor Potential Channels: An Unmet Therapeutic Intervention for Atopic Dermatitis.Frontiers in immunology · 2021Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Gain-of-function mutations in the TRPV3 gene can cause Olmsted syndrome characterized by palmoplantar and periorificial keratoderma, itch, and hair loss. The mechanism underlying the hair loss remains unclear. In this study, we engineered an Olmsted syndrome mouse model by introducing the point mutation G568V to the corresponding Trpv3 locus in the mice. These mice developed fully penetrant hair loss. The hair loss was associated with premature differentiation of follicular keratinocytes characterized by precocious degeneration of trichohyalin and keratins, increased production of deiminated proteins, elevated apoptosis, and attenuation of transcription regulators (Foxn1, Msx2, Dlx3, and Gata3) known to regulate hair follicle differentiation. These abnormalities occurred in the medial‒proximal region of the inner root sheath and the hair shaft, where Trpv3 is highly expressed, and correlated with an impaired formation of the hair canal and the hair shaft. The mutant Trpv3 mice also exhibited increased proliferation in the outer root sheath, accelerated hair cycle, reduction of hair follicle stem cells, and miniaturization of regenerated hair follicles. Findings from this study suggest that precocious maturation of postmitotic follicular keratinocytes drives hair loss in patients with Olmsted syndrome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.