January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
2 citations
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July 2021 in “UNC Libraries” Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
October 2022 in “Medičnì perspektivi” Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
3 citations
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March 2021 in “Indian Journal of Rheumatology” Remote monitoring of chronic diseases like dermatomyositis is challenging and needs better tools for early detection and patient education.
407 citations
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January 2008 in “Cochrane Database of Systematic Reviews” Glucocorticoid corticosteroids improve muscle strength in Duchenne muscular dystrophy but can cause side effects.
A 9-year-old girl developed type 1 diabetes and alopecia after being treated for a rare kidney disease.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
3 citations
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July 2021 in “Cutis” Panniculitis in dermatomyositis is rare, more common in women, and may persist despite treatment.
15 citations
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June 2021 in “Medicina” Combined light therapy improves eye health and quality of life for those with meibomian gland dysfunction.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
65 citations
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March 2004 in “Journal of Clinical Investigation” Inhibiting ornithine decarboxylase may help prevent certain skin cancers.
27 citations
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May 2015 in “Neuropharmacology” Dutasteride protects dopamine neurons in Parkinson's mice, but Finasteride doesn't.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
15 citations
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September 2018 in “Frontiers in Plant Science” BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
May 2024 in “International Journal of Molecular Sciences” Mouse hair follicle stem cells can help prevent Type 1 Diabetes.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
134 citations
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January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
June 2026 in “Frontiers in Oncology” GSDMA deficiency slows skin cancer growth.
September 2022 in “Journal of The American Academy of Dermatology” Combining dutasteride mesotherapy with oral minoxidil is more effective for hair loss than using oral minoxidil alone.
November 2021 in “World Family Medicine Journal /Middle East Journal of Family Medicine” The document's conclusion cannot be provided because the document is not readable or understandable.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
29 citations
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
September 2012 in “대한피부과학회지” Desmocollin 1 helps maintain skin structure during fetal development.
August 2025 in “Rare Metals” Metformin/dopamine-derived carbon dots help heal bacteria-infected wounds faster.
277 citations
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July 2002 in “Molecular Endocrinology” Removing part of the vitamin D receptor stops vitamin D from working properly.