3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
74 citations
,
September 1980 in “Medical Clinics of North America” This article discusses toxic epidermal necrolysis, highlighting its high mortality rate despite aggressive treatment, and notes controversy over using high-dose systemic corticosteroids as therapy.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
1 citations
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November 2023 in “Journal of neurology” This study reports a case of a patient with neuromyelitis optica spectrum disorders treated with eculizumab who developed fatal sepsis after insulin resistance emerged.
35 citations
,
April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
4 citations
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November 2020 in “Acta Dermato Venereologica” In this study, patients with specific skin and scalp conditions, including eczematous lesions, showed significant improvement after two weeks of oral tofacitinib treatment, as evidenced by changes in the trunk lesions.
3 citations
,
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.
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.
8 citations
,
April 2015 in “Transboundary and Emerging Diseases” This report describes an outbreak of catheter-related infections by ESBL-producing E. coli in calves at an animal teaching hospital, highlighting the risk of these strains becoming nosocomial and increasing mortality and antibiotic use.
8 citations
,
June 2022 in “Cancers” In this study, EC chemotherapy was found to be noninferior to TC in causing grade 3 or 4 neutropenia among HR+/HER2-negative breast cancer patients, but EC was associated with more other adverse events.
1 citations
,
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.
60 citations
,
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 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
September 2015 in “Photodiagnosis and Photodynamic Therapy”
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
21 citations
,
May 2014 in “Toxicological Sciences” This study found that skin exposure to toluene diisocyanate in mice creates immune-recognition reservoirs in the skin's stratum corneum and hair follicles, potentially leading to sensitization and allergic reactions.
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 in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.
45 citations
,
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.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
1 citations
,
October 2022 in “Molecular therapy” This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.
2 citations
,
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.
June 2025 in “Preprints.org” This review examines the complex role of the Ectodysplasin-A pathway in skeletal morphogenesis, emphasizing its interaction with other key signaling pathways, and reports no new experimental findings.
24 citations
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August 2019 in “Journal of the American Academy of Dermatology” Teledermatology reduces unnecessary in-person visits and improves care.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
July 2004 in “Transplantation” This study found that enalapril treatment reduced hematocrit levels in posttransplant erythrocytosis patients and increased transferrin saturation index and ferritin levels in those with iron deficiency among long-term renal transplant recipients.
48 citations
,
November 1992 in “International Journal of Dermatology” This article discusses the history and terminology of toxic epidermal necrolysis but reports no new clinical results.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.