January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
3 citations
,
February 2025 in “Metabolites” In this study, researchers identified specific Se6OMT enzymes in *S. epigaea* involved in the cepharanthine biosynthetic pathway, providing insights into their substrate promiscuity and essential genetic components for metabolic engineering and synthetic biology applications of cepharanthine production.
March 2024 in “BMC cancer” This study reports that high expression of proteins ST14 and TMEFF1 in ovarian cancer correlates with higher tumor malignancy and worse prognosis, and reveals an interaction where ST14 regulates TMEFF1 to promote cancer cell proliferation, migration, and invasion.
July 2026 in “The Journal of Immunology” This study in a murine model of alopecia areata found that IFNg is crucial while perforin is not necessary for CD8 T cell-mediated disease development.
October 2000 in “Pediatrics in Review” This report describes a case in which poststreptococcal reactive arthritis in a girl was effectively treated with naproxen, and highlights the importance of considering nongroup A Streptococcus in similar presentations.
46 citations
,
September 2007 in “Journal of Investigative Dermatology”
January 2024 in “JOJ Dermatology & Cosmetics” This article discusses a trial evaluating patient satisfaction with the TH07 treatment for androgenetic alopecia but reports no clinical results.
October 2019 in “Asian College of Neuropsychopharmacology”
92 citations
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December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.
January 2020 in “SCIENCE, ENGINEERING AND TECHNOLOGY: GLOBAL TRENDS, PROBLEMS AND SOLUTIONS” This conference proceedings compilation from Prague covers global trends, problems, and solutions in science, engineering, and technology, but reports no new clinical results.
January 2026 in “Elsevier eBooks”
January 2026 in “Nanoscale Advances” In this study, a biocompatible zinc oxide nanocomposite loaded with the anticancer drug 9-Br-Nos demonstrated effective drug delivery and cytotoxicity against lung cancer cells in vitro, while also proving non-toxic to healthy cells, suggesting its potential for targeted lung cancer treatment.
14 citations
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August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
September 2002 in “Oncology Times” This study presented at the ASCO Annual Meeting reported that the epidermal growth factor receptor antibody ABX-EGF showed preliminary efficacy in renal cell cancer patients, with tolerable side effects, while bortezomib demonstrated clinical benefit in a significant proportion of multiple myeloma patients.
August 2011 in “SpringerReference” February 2026 in “Pediatric Dermatology” October 1993 in “The Journal of Clinical Pharmacology”
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that tissue transglutaminase (TG2) may play a role in sebum production by regulating autophagy in sebaceous glands, offering potential targets for dermatological interventions.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
2 citations
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August 2025 in “Scientific Reports” This study analyzed pexidartinib-associated adverse events from FDA data and reported common events such as hepatic issues and systemic reactions. It highlighted sex-specific susceptibilities and reinforced the need for risk mitigation and long-term monitoring in tenosynovial giant cell tumor management.
1 citations
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May 2025 in “Natural Products and Bioprospecting” In this study, PEVIII, a nanocomposite chitosan-coated vesicle containing both α-hederin and hederacoside C, demonstrated notable antibacterial activity against Pseudomonas aeruginosa in a keratitis model, showing significant lesion reduction, tissue improvement, and decreased bacterial load and inflammatory markers compared to other treatments.
12 citations
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May 2010 in “Journal of Clinical Oncology” This study found that MK-5108 is well tolerated at high doses as monotherapy in cancer patients, showing stable disease and some antitumor activity, particularly in combination with docetaxel.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
April 2016 in “Journal of Investigative Dermatology” This study found that administering botulinum toxin A via Flex-PADs to mouse footpads inhibited sweating similarly to traditional injections, suggesting a promising patient-friendly delivery method for hyperhidrosis treatment.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.