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.
October 2022 in “The American journal of gastroenterology” This case report details a patient with myasthenia gravis and a malignant thymoma whose rising liver function tests, initially thought to be related to antibiotic use, were ultimately attributed to thymoma-associated multiorgan autoimmunity.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
1 citations
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December 2007 in “Journal of Microbiology and Biotechnology” This study found that Minoxidil included in triamino alpha-cyclodextrin significantly promoted hair growth in mice, potentially due to its enhanced substantivity on skin.
20 citations
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August 2022 in “Archives of Medical Science” This publication discusses the 2021 ESC Guidelines for the prevention of cardiovascular disease in clinical practice and reports no new results.
50 citations
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November 1984 in “Journal of Heredity” This study found that supplementing zinc improved certain developmental defects in mice with the lethal-milk mutation, although it did not increase the survival rate among backcross progeny.
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.
18 citations
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October 2005 in “International Journal of Pharmaceutics” This study found that incorporating 0.5% TPGS into topical minoxidil solutions enhanced hair growth in mice, although increasing TPGS to 2% decreased effectiveness.
2 citations
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July 2016 in “Pharmacopsychiatry” This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.
28 citations
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October 2014 in “Development” This study revealed that frizzled 3 can fully rescue polarity defects in frizzled 6-null mice, while frizzled 6 can partially rescue defects in frizzled 3-null mice, highlighting conserved signaling roles in these proteins.
1 citations
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July 2024 in “Journal of Investigative Dermatology” TAK-279 effectively reduces psoriasis symptoms and is safe.
1 citations
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August 2025 in “Frontiers in Pharmacology” This review discusses advancements in using dissolving microneedle systems for transdermal delivery of traditional Chinese medicine, highlighting potential benefits for simplifying application, enhancing safety, and increasing efficacy, and underscores its possible impact on modernizing traditional medicine practices.
2 citations
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July 2023 in “Water” In this study, the genotoxic effects of the 2020 harmful algal bloom event were linked to specific toxic algal groups affecting Tradescantia plants, making Trad-SHM and Trad-MN tests suitable for evaluating HABs' toxic potential.
June 2025 in “British Journal of Dermatology” In this study, researchers describe a rare case of trichoepitheliomas in a 7-year-old boy, characterized by multiple skin lesions in a Blaschko-linear pattern, hypothesizing it as a type 1 segmental mosaicism without detected CYLD gene mutations.
16 citations
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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
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July 2025 in “Nature Communications” In this study using mice, researchers found that the Piezo1 channel regulates metabolic changes and immune cell infiltration during skin growth under tension, with altered expression of glycolysis-related genes and increased macrophage activity observed in stretched skin.
28 citations
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October 2011 in “British Journal of Pharmacology” This study found that enhanced neurosteroid synthesis likely mediated by the translocator protein contributed to the anticonvulsant action of midazolam in mice.
33 citations
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July 2007 in “Journal of cell science” This study found that knocking out the transactivation domain of Miz1 in mouse keratinocytes disrupted hair follicle orientation, caused irregular pigmentation, and increased keratinocyte proliferation, indicating Miz1's role in hair follicle development and morphogenesis.
1 citations
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January 2025 in “Regenerative Biomaterials” In this study, researchers found that exosomes derived from Pinctada martensii mucus can effectively inhibit melanin production in melanoma cells and zebrafish without adverse effects, potentially offering a promising therapeutic strategy for treating pigmentary disorders by modulating the NF-κB signaling pathway.
14 citations
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February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
January 2023 in “Indian Dermatology Online Journal” This case report describes a novel association between uncombable hair syndrome and Zellweger syndrome due to a homozygous mutation in the PEX12 gene.
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.
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.
August 2013 in “Fertility and sterility” This study suggests that metformin might serve as a diagnostic and therapeutic option to distinguish insulin resistance-related ovarian testosterone excess from a testosterone-secreting tumor in women with virilization.
April 2024 in “Cellular signalling” This study on mice found that activating TRPML channels with MLSA1 promoted hair regeneration, accelerated hair cycle transition, and influenced human dermal papilla cells to secrete hair growth promoting factors while reducing hair growth inhibitors and oxidative damage.
December 2024 in “Stem Cell Research & Therapy” This study found that OCT4-overexpressing human hair follicle mesenchymal stem cells show promise for artificial hematopoiesis by enhancing self-renewal through cytoskeletal remodeling and the beta-catenin-dependent adherens junction pathway.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that TGM2 appears to play a crucial role in sebocyte differentiation and may act as a negative regulator of lipid metabolism in sebaceous glands.
1 citations
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June 2015 in “Journal of anatomy” This study reported that novel kainate derivatives, especially ZCZ90, maintained potency in affecting proprioceptive sensory organ firing, aiding future receptor studies for potential treatment innovations.
September 2025 in “Journal of Psychiatry Spectrum” This case report describes a rare instance of gynecomastia in a male patient undergoing mirtazapine treatment for depression, suggesting the drug as a probable cause after ruling out other factors.