17 citations
,
December 2006 in “Gene Expression Patterns” This study reports that the mouse Scube3 gene is expressed in various tissues during embryonic development, including the neural tube, limb buds, developing tooth, hair follicle, and skeletal regions.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
January 2015 in “Durham e-Theses (Durham University)” This study found that glucose starvation and hypoxia are physiological triggers of ER stress in in vitro differentiated adipocytes, rather than high concentrations of saturated fatty acids, cholesterol, or proinflammatory cytokines.
16 citations
,
January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
7 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
January 2013 in “International Journal of Trichology” This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
22 citations
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August 2020 in “Cells” This review discusses the role of TGM3 in skin and hair follicle biology, human tumor pathology, and genetic abnormalities, and reports no novel results; the authors highlight its potential as a cancer diagnostic biomarker.
1 citations
,
September 2021 in “Frontiers in Endocrinology” This case report describes the use of topical minoxidil to successfully promote facial hair growth in a 17-year-old trans male unable to start testosterone therapy, with skin dryness as the only reported side effect.
17 citations
,
September 2009 in “British Journal of Dermatology” This study suggests that clinically apparent fragile hair in children is rarely linked to trichothiodystrophy, and the tiger-tail pattern is not wholly specific to this diagnosis.
7 citations
,
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.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
April 2021 in “Journal of Investigative Dermatology” A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
2 citations
,
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.
April 2012 in “Informa Healthcare eBooks” Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
3 citations
,
August 2021 in “Journal of the American Academy of Dermatology” This study reported that facial hair is a crucial aspect of gender identity and transition for transmen, with a majority dissatisfied with their current facial hair despite testosterone therapy.
3 citations
,
February 2021 in “JAMA Dermatology” Masculinizing hormone therapy increases the risk of hair loss in transgender and gender-diverse patients.
19 citations
,
November 1971 in “Clinica Chimica Acta” In this study, the researchers found that the absence of the NFI-C transcription factor delayed the hair growth cycle in mice by affecting key gene expressions and signaling pathways.
164 citations
,
December 1984 in “Proceedings of the National Academy of Sciences” This study found that TCDD significantly reduced EGF receptor binding in various animal models, linked to toxic symptoms like weight loss and developmental delays, with receptor phosphorylation persisting several days.
1 citations
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January 2008 January 2025 in “Journal of Ethnopharmacology” This study found that external application of DGD activates the Wnt/β-catenin signaling pathway, promoting hair follicle anagen phase entry, and is a more effective and safer treatment for androgenetic alopecia in mice compared to oral administration.
35 citations
,
September 2011 in “The Journal of Dermatology” This article discusses the trichoscopic diagnosis of temporal triangular alopecia, but reports no new clinical results.
53 citations
,
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.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
14 citations
,
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.
4 citations
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July 2023 in “Frontiers in Microbiology” HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.
October 2025 in “Dermatology Practical & Conceptual” In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.
205 citations
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March 2012 in “Science Translational Medicine” PGD2 stops hair growth and is higher in bald men with AGA.