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 2019 in “Columbia Academic Commons (Columbia University)” This study used cryo-electron microscopy to reveal the structural mechanisms by which TRPV6 and TRPV3 ion channels open, close, and are regulated, providing insights for potential future research.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
May 2024 in “International journal of medicine and psychology.” This study examined monoclonal antibodies LT-1, LT-2, and LT-7, finding they can effectively detect certain antigens on T and B cells involved in various lymphoproliferative diseases, aiding in the diagnosis of both acute and chronic lymphoid neoplasias.
9 citations
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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.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
1 citations
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January 2008 March 2014 in “Institutional Repositories DataBase (IRDB)” 6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” This study found that the ID2 gene was highly expressed in bulge-derived keratinocytes when exposed to contact sensitizers and may serve as a marker to distinguish sensitizers from irritants during in vitro testing.
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.
7 citations
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January 2016 in “Laboratory Investigation” TR3 is mainly found in hair follicle stem cells and may be involved in hair loss.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
February 2024 in “Planta” This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.
10 citations
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May 2019 in “BMC Complementary and Alternative Medicine” This study found that Bacillus/Trapa japonica fruit ferment filtrate extracts enhanced human hair follicle dermal papilla cell proliferation through the Akt/ERK/GSK-3β signaling pathway, suggesting potential benefits for alopecia treatment.
1 citations
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February 2025 in “Journal of the Neurological Sciences” This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.
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.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
August 2012 in “Nature Cell Biology” In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.
26 citations
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August 2018 in “Journal of Investigative Dermatology” This study found that TRPV3 activation in human sebocytes inhibits lipid synthesis and triggers proinflammatory cytokine expression, suggesting a role in the pathogenesis of dry skin-associated inflammatory dermatoses.
April 2017 in “Journal of Investigative Dermatology” This study found that a single dose of TRP significantly reduced the number of UV-B-induced actinic keratosis lesions in a mouse model and was associated with improved skin histology and minimal side effects.
March 2022 in “Oncology Times” In this study, tebentafusp-tebn improved overall survival in patients with metastatic uveal melanoma compared to standard therapies, despite higher rates of significant adverse events.
4 citations
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September 1993 in “Steroids” This paper details a method for measuring testosterone metabolism into seven androgens using digital autoradiography, which offers high sensitivity and reduces the need for radioactive materials.
6 citations
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March 1976 in “Journal of Investigative Dermatology” September 2024 in “Journal of the American Academy of Dermatology” 19 citations
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July 1997 in “British Journal of Dermatology” This study successfully developed and characterized a monospecific monoclonal antibody, LHTric-1, that specifically localizes to the pre-cortical region of the hair follicle and can aid research on hair and nail formation.
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.
124 citations
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December 2016 in “Pharmaceuticals” This review discusses the functions and potential therapeutic targeting of TRP ion channels in the skin, noting their involvement in both physiological processes and various pathological conditions, but reports no new experimental results.
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.
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.