January 2013 in “edoc (University of Basel)” This study found that TRF1 plays a crucial role in maintaining pluripotency and stem cell compartments, but it is not a suitable in vivo telomere length marker.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
6 citations
,
October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.
59 citations
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November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
This presentation suggests that the activation of TRPV3 channels by fruit acids and carvacrol contributes to exfoliation and may underlie the skin-resurfacing effects of chemical peels.
This study found that a short-term treatment with all-trans retinoic acid may effectively stabilize platelet counts in idiopathic thrombocytopenic purpura patients experiencing fluctuations during thrombopoietin receptor agonist therapy.
46 citations
,
November 2007 in “Gene Expression Patterns” This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.
24 citations
,
February 2022 in “Journal of Biological Chemistry” This study found that carvacrol activates the TRPV3 ion channel by binding to a specific pocket formed by the S2-S3 linker, providing insight into its role in skin sensitization and potential for designing specific modulators.
109 citations
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November 2011 in “Nature Neuroscience” 6 citations
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December 2016 in “Journal of Obsessive-Compulsive and Related Disorders” This study found that adults with trichotillomania did not show differences in pain tolerance or exhibit analgesia to cold pressor pain compared to healthy controls.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
This study found that TLR2 in hair follicle stem cells is crucial for maintaining hair health and regeneration, and its decrease in aging and obesity may impair hair growth, suggesting that stimulation through its ligand carboxyethylpyrrole could offer new therapeutic avenues.
February 2026 in “Advanced Science” This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.
9 citations
,
May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
3 citations
,
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 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers introduced a mutation in mice to mimic Olmsted syndrome and found that the mutation caused hair loss due to impaired keratinocyte differentiation and depletion of hair follicle stem cells.
11 citations
,
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.
December 2024 in “Frontiers in Genetics” This review discusses the genetic causes and pathogenesis of Olmsted syndrome, emphasizing the potential for a genotype-phenotype correlation due to TRPV3 mutations, and explores avenues for individualized treatment developments for this condition.
1 citations
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September 2025 in “Pediatric Dermatology” This systematic review reported that habit reversal training showed the most consistent benefit for treating pediatric trichotillomania, while evidence for pharmacological treatments and alternative therapies like N-acetylcysteine remains insufficient, highlighting the need for early behavioral intervention and further research into standardized treatment protocols.
6 citations
,
January 2021 in “Frontiers in Immunology” This study found that deficiency in TLR3/TRIF signaling reduced inflammation and protected mice against postoperative ileus, suggesting potential for TLR3 antagonism as a preventive approach in humans.
13 citations
,
January 2018 in “Yonsei Medical Journal” This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
January 2012 in “heiDOK (Heidelberg University)” In this study, researchers observed that dormant TRP-2+ melanoma cells in bone marrow can interact with CD8+ T cells in tumor-bearing ret transgenic mice, potentially influencing immune responses.
16 citations
,
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.
8 citations
,
October 2020 in “Clinical Psychopharmacology and Neuroscience” This case series found that low-frequency repetitive transcranial magnetic stimulation may benefit some patients with trichotillomania, although one of five patients experienced worsening symptoms after treatment.
122 citations
,
June 1998 in “PubMed” This study found that sensory and sympathetic innervation in the mystacial pads of mice is governed by a balance of neurotrophin signaling, highlighting the roles of NGF/trkA and NT-3/trkC pathways.