In this retrospective case series, therapeutic responses to immunomodulatory and incretin-based therapies for Dercum's disease showed considerable individual variation, suggesting these treatments might be exploratory options when surgery isn't feasible, though further controlled studies are needed for definitive conclusions.
January 2007 in “Revista del Centro Dermatológico Pascua” This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.
In this study, deleting the -catenin gene in vitamin D receptor-null mice did not prevent tumor development, suggesting -catenin's predicted protective role was not observed.
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.
1 citations
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January 2008
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
1 citations
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October 2020 in “Research Square (Research Square)” This study found that abnormal Wnt signalling in stem cells may contribute to blackhead formation in acne by inhibiting cell differentiation and causing cell accumulation in the junctional zone.
7 citations
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April 2022 in “Cutis” This article discusses the rise of direct-to-consumer teledermatology platforms, warning that they might cause overdiagnosis, overtreatment, and fragmented healthcare, and emphasizes the need for patient counseling about these risks and benefits.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
20 citations
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August 2019 in “Journal of Telemedicine and Telecare” This study found that dermatologists in São Paulo reported increased confidence in teledermatology over one year, citing its utility for triage and diagnosis, particularly for superficial infections and pigmentary disorders.
60 citations
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August 2022 in “ESMO Open” This review discusses managing common and notable adverse events associated with the antibody-drug conjugate trastuzumab deruxtecan in patients with HER2-positive unresectable/metastatic breast cancer and reports no new clinical results.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
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.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
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.
January 2026 in “Internal Medicine Journal” This study emphasizes the need for a formal evaluation of direct-to-consumer telemedicine services in Australia to ensure safety, privacy, and ethical standards while maintaining high-quality healthcare.
37 citations
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May 2003 in “Journal of Consumer Marketing” This review discusses consumers' positive attitudes towards direct-to-consumer pharmaceutical advertising, highlighting its impact on patient engagement despite physicians' mixed opinions on its influence on the doctor-patient relationship.
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.
21 citations
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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.
1 citations
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May 2025 in “Frontiers in Medicine” In this case series, dual-targeted therapy was observed to provide promising clinical responses in refractory inflammatory bowel disease, with 88.23% to 100% response rates across 9 months and an endoscopic response in 88.89% of evaluated patients, though some adverse events occurred.
3 citations
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January 2009 in “Sen'i Gakkaishi” This study found that using a bicomponent reduction system with TGA and DTDG for hair straightening limited hair damage by forming only thiol groups, while a TGA-only system formed more damaging mixed disulfide groups.
1 citations
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February 2022 in “Clinical, Cosmetic and Investigational Dermatology” In this study, researchers found that the thyroxine receptor agonist TDM10842 accelerated the onset of anagen, a hair growth phase, in C3H mice, potentially through activation of the Wnt/beta-catenin and Hedgehog pathways, with Pclaf playing a key role in this process.
September 2025 in “JMIR Dermatology” This narrative review reported that direct-to-consumer teledermatology improves access to care, adherence, and patient satisfaction for treating male androgenetic alopecia, but may lead to higher drug costs.
July 2025 in “Ultrasound in Medicine & Biology” This study found that nanobubble-encapsulated diclofenac with ultrasound-targeted microbubble destruction (DNBs-UTMD) can enhance the anti-tumor efficacy of Doxil® by regulating the tumor immune microenvironment, improving drug uptake, and increasing T cell responses while reducing immune-suppressive cells in the process.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
42 citations
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July 2017 in “Molecular therapy” This study found that applying a tocotrienol-rich phytochemical topically induced hair follicle development in adult mice, revealing a new epidermal pathway involving E-cadherin and β-catenin.
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.
28 citations
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September 2014 in “Journal of Veterinary Internal Medicine” This study found that the novel drug VDC-1101 showed a 45% objective response rate in treating canine cutaneous T-cell lymphoma, offering a potential treatment option for this challenging disease.
5 citations
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June 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that applying topical thymidine dinucleotide (pTT) to newborn mice before UV exposure delayed and reduced melanoma development compared to untreated controls.
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.