1 citations
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November 2023 in “Journal of neurology” A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
14 citations
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November 1987 in “Journal of The American Academy of Dermatology” A woman developed a severe skin reaction called toxic epidermal necrolysis after taking the antibiotic cephalexin.
3 citations
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August 2023 in “Drug safety” Proactive monitoring and management are essential to maximize the benefits of Trastuzumab Deruxtecan while minimizing serious side effects.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
June 2025 in “Preprints.org” EDA is vital for bone and cartilage formation and could help treat skeletal disorders.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
2 citations
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June 1985 in “PubMed” Ethylenthiourea is toxic to the liver and nervous system, especially with alcohol.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
21 citations
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May 2014 in “Toxicological Sciences” Toluene diisocyanate exposure can cause immune sensitization by interacting with proteins in hair follicles and sebaceous glands.
8 citations
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June 2022 in “Cancers” Epirubicin and cyclophosphamide cause more anemia and side effects than docetaxel and cyclophosphamide, but both are equally effective.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
68 citations
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April 2012 in “Digestive and Liver Disease” Elental is a good long-term treatment for Crohn's disease, similar to 6-mercaptopurine but with fewer side effects.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
September 2024 in “Journal of Cosmetic Dermatology” Ectoin helps prevent cortisone-induced skin problems and supports skin health.
33 citations
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May 2017 in “Journal of Clinical Oncology” ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
1 citations
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May 2025 in “Frontiers in Medicine” Dual-targeted therapy is effective and safe for difficult-to-treat inflammatory bowel disease.
September 2015 in “Photodiagnosis and Photodynamic Therapy” January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
35 citations
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April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
60 citations
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August 2022 in “ESMO Open” Trastuzumab deruxtecan is effective for HER2-positive breast cancer but requires careful management of side effects.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
74 citations
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September 1980 in “Medical Clinics of North America” Toxic epidermal necrolysis is a severe skin condition often caused by drugs, with complex treatment and a high risk of death, but survivors usually heal without scars.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
45 citations
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February 2011 in “IOP Conference Series Materials Science and Engineering” The sensor accurately measures thallium ions in solutions with high selectivity.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.