March 2003 in “中華皮膚科醫學雜誌” This report describes a patient with trichothiodystrophy exhibiting both specific hair abnormalities and developmental delay, contributing to the understanding of this rare disorder's clinical presentation.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
27 citations
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June 2013 in “Genes & development” This study found that L-type channel blockers can induce hair growth in Timothy syndrome by overcoming delays in anagen phase, suggesting a potential therapeutic role for tissue regeneration.
2 citations
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January 2018 in “International Journal of Trichology” This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
January 2022 in “Figshare” Melatonin affects specific gene patterns and biological processes in goat hair growth.
1 citations
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January 2016 in “ARC Journal of Urology” This study found that Thermobalancing therapy using Dr Allen's Device significantly improved symptoms and quality of life in men with benign prostatic hyperplasia, but larger prostate sizes may require longer treatment.
119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
January 1998 in “International Society of Hair Restoration Surgery” This report details the first examination for the American Board of Hair Restoration Surgery, where 27 out of 32 candidates passed both parts of the test, but it presents no new research findings.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
20 citations
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November 2019 in “Stem Cells” This study found that deleting the Hes1 gene disrupts hair regeneration by delaying anagen initiation and shortening the anagen phase, suggesting it's crucial for maintaining hair cycle homeostasis.
72 citations
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October 2009 in “The FASEB journal” This study found that thyrotropin-releasing hormone (TRH) acts as a potent stimulator of hair growth in human scalp hair follicles, promoting elongation and prolonging the anagen phase.
4 citations
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February 2020 in “Cell & tissue research/Cell and tissue research” This study suggests that adult hair follicle stem cells can survive and potentially differentiate into neuronal cells after being transplanted in a mouse model of traumatic brain injury, indicating promise for TBI therapy.
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.
60 citations
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October 2020 in “Nature Communications” This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.
43 citations
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July 2017 in “International journal of pharmaceutics” This study found that anionic HSES achieved high complexation efficiencies with various steroids, significantly enhancing their solubility, while specific β-cyclodextrin thioethers showed selective binding to testosterone and estradiol.
35 citations
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September 2012 in “PloS one” This study found that in Arabidopsis seedlings, tonoplast intrinsic proteins are targeted to the vacuole via at least two pathways, including pathways with differing sensitivity to a chemical inhibitor that affect root hair growth and PIN2 targeting.
85 citations
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June 2017 in “Journal of Investigative Dermatology” This study found that Blimp1 plays a key role in promoting hair follicle morphogenesis and growth by mediating inductive signaling pathways in dermal papilla cells.
26 citations
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August 2019 in “Stem Cell Research & Therapy” This study found that PBX1 enhances the proliferation and reprogramming of hair follicle mesenchymal stem cells by activating the AKT/GSK3β signaling pathway, promoting NANOG expression, and inhibiting apoptosis.
8 citations
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January 2014 in “Indian Dermatology Online Journal” This article presents a case of trichostasis spinulosa, a common but often unrecognized disorder, diagnosed through dermoscopic examination of black macules revealing bundled vellus hairs, with the patient declining treatment.
8 citations
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April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
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.
This study reports isolated clitoral hood hair-thread tourniquet syndrome, highlighting the importance of suspicion in females with prominent clitoral hood and genital pain to facilitate timely intervention and tissue preservation.
7 citations
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November 1997 in “Pediatric Dermatology” This case report identifies an association between trichothiodystrophy and a urologic malformation with primary hypercalciuria, adding to the spectrum of TTD-related abnormalities.
This review explores the mechanisms and clinical applications of thymosin β4, highlighting its potential in various medical fields, but it presents no new research findings.
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.
December 2025 in “ILDS-DEV”
19 citations
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September 2019 in “EMBO molecular medicine” This study found that deletion of c-Jun and JunB in mouse bulge hair follicle stem cells was sufficient to trigger psoriasis-like skin disease through thymic stromal lymphopoietin signaling.
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 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.