16 citations
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March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
5 citations
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January 2018 This study optimized a screening assay to identify molecules that inhibit or enhance TRPM5 ion channel activity, which may have implications for treating dysfunctions linked to cardiac arrhythmias and diabetes.
4 citations
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September 2024 in “Development” This study investigated transcription factors in human trophectoderm cells during development, finding that GATA2 and GATA3 are essential for transforming stem cells into induced trophoblast stem cells, which display characteristics similar to placental progenitor cells, offering new methods for modeling placental-associated diseases.
4 citations
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October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
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.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
11 citations
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January 1989 This case report describes two patients with trichothiodystrophy who exhibited a different pattern of hair protein composition changes, suggesting a subgroup of TTD characterized by partial loss of high-sulfur proteins without significant alteration in their amino acid composition.
37 citations
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November 2007 in “Journal of Biological Chemistry” This study found that increased intracellular expression of thymosin β4 is necessary and sufficient to induce PAI-1 gene expression in endothelial cells, potentially mediated through Ku80 as a novel receptor.
September 2004 in “Hair transplant forum international” This article summarizes a meeting of the American Board of Hair Restoration Surgery's Board of Directors to discuss future plans, but does not report new experimental results.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
9 citations
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January 2023 in “International Journal of Biological Sciences” This study suggests that CTHRC1, a protein expressed in cardiac fibroblasts, may improve wound repair and prevent cardiac rupture after myocardial infarction by activating a specific signaling pathway.
3 citations
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March 2020 in “International Journal of Molecular Sciences” This study found that overexpressing the gene Thymosin β4 (Tβ4) can promote the growth and development of secondary hair follicle dermal papilla cells in cashmere goats, suggesting its potential as a target for increasing cashmere production.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
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.
December 2014 in “Journal of Biomedical Research” In a mouse model of peripheral vascular disease, this study found that recombinant thymosin β4 treatment increased expression levels of certain proteins, promoting angiogenesis.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
135 citations
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October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
9 citations
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January 2012 in “International journal of trichology” This case report suggests that Trichostasis spinulosa should be considered in diagnosing treatment-resistant open comedone-like lesions and that skin surface biopsy might be an effective diagnostic method.
53 citations
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March 2006 in “Biopolymers” This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.
April 2023 in “World Journal of Advanced Research and Reviews” This case report describes common thyroid disorders in a β-thalassemia patient with frequent blood transfusions, emphasizing the need for monitoring thyroid function in such patients.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling and periodontal ligament homeostasis in occlusal hypofunctional conditions.
111 citations
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August 2002 in “Journal of Medicinal Chemistry” This study reports that 2-(1-Adamantyl)-4H-thiochromen-4-on-6-O-sulfamate is the most potent steroid sulfatase inhibitor identified so far, exhibiting 170-fold higher activity than the lead compound estrone sulfamate.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.