3 citations
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March 2017 in “Pediatric Dermatology” This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.
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.
5 citations
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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.
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.
This study found that the Arabidopsis cation chloride cotransporter CCC1 is critical for regulating pH in the trans-Golgi network/early endosome, impacting plant growth and stress response.
17 citations
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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.
35 citations
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September 2011 in “The Journal of Dermatology” This article discusses the trichoscopic diagnosis of temporal triangular alopecia, but reports no new clinical results.
October 1984 in “Immunology Today”
This study investigated dual TCR Treg cells in mouse tissues, revealing a high proportion and diverse pairing patterns compared to single TCR Tregs, providing insights into their origins and characteristics across different tissue locations.
This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.
March 2003 in “Rosa P: A digital library for transportation research (United States Department of Transportation)” This article presents a toolkit created by the FTA to help transit agencies manage employees' use of medications that could impact public safety, but it reports no new results.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
1 citations
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May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
August 2026 in “Bone and Joint Research” In this study, tibial cortex transverse transport accelerated wound healing in diabetic rats, potentially through enhanced mobilization of non-classical monocytes and increased M2 macrophage polarization.
In this study, researchers analyzed over 5,000 T cells per sample using scRNA+TCR-seq technology and found that dual TCR Tregs are present in high proportions across various mouse tissues, showing unique TCR pairing patterns, V(D)J usage, and mRNA expression compared to single TCR Tregs.
188 citations
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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.
February 2026 in “Oncology Reviews” This review highlights the promising clinical outcomes of sacituzumab tirumotecan (sac-TMT), an antibody-drug conjugate for breast cancer that targets TROP2, demonstrating improved response rates and progression-free survival, with manageable safety concerns including primarily mild-to-moderate nausea and alopecia.
10 citations
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January 1997 in “Dermatology” This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.
November 2025 in “Journal of Investigative Dermatology” Certain immune cells in atopic dermatitis skin could be targeted for treatment.
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.
1 citations
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January 2008 2 citations
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December 2022 in “The Journal of Dermatology” This study found that patients with hidradenitis suppurativa had significantly higher levels of cell-free DNA in their serum compared to healthy controls, suggesting its potential as a biomarker for the disease.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
45 citations
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February 2011 in “IOP Conference Series Materials Science and Engineering” This study developed a sensor that effectively measures Tl+ cation in solutions with a wide dynamic range and low detection limit, responding linearly within the concentration range 1.0 × 10−8 to 1.0 × 10−1M.
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.
215 citations
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November 2000 in “Journal of Investigative Dermatology” This study found that the tetracycline-regulated transcription system effectively controls conditional gene expression in the mouse epidermis, allowing suppression and activation of specific genes with doxycycline.
April 2007 in “Nature Clinical Practice Urology” TICE salvage chemotherapy is effective for treating germ-cell tumors with poor prognosis.
14 citations
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February 2020 in “Scientific reports” This study found that telocytes in human scalp tissue were located around hair follicles and glands and may be involved in skin regeneration and homeostasis.
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.
This observational study reviewed thyroid eye disease patients treated with teprotumumab at one center, reporting common side effects like fatigue and dry eye symptoms, with serious adverse events including two cases of blood clots and one pulmonary embolism.