An infant with a zinc deficiency skin disorder improved with zinc treatment.
29 citations
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
June 2006 in “Annales de Dermatologie et de Vénéréologie” Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
372 citations
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December 2004 in “Nature Genetics” 1 citations
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May 2012 in “International Conference on Biomedical Engineering and Biotechnology” TGF-β receptor 1 helps deer antlers grow by aiding skin and cartilage cell growth.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
November 2024 in “Journal of Investigative Dermatology” Scalp hair follicle cells help protect and heal skin in certain skin conditions.
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.
32 citations
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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
323 citations
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November 1984 in “Journal of Investigative Dermatology” 138 citations
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December 1976 in “Journal of Biological Chemistry” The enzyme from human skin can cross-link proteins and needs calcium to work.
19 citations
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March 2016 in “Frontiers in Plant Science” Spermidine is essential for plant growth and adaptation to stress.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
2 citations
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July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
June 2025 in “British Journal of Dermatology” Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
41 citations
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January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
2 citations
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May 2021 in “Case reports in dermatological medicine” A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.
2 citations
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July 2022 in “Dermatology Reports” EPDS and MS might share an immune-related cause.
32 citations
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January 1971 in “Annals of Internal Medicine” People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
1 citations
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October 2023 in “PROTOPLASMA” June 2026 in “Clinical Case Reports” Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
January 2022 in “Archiv für Tierzucht” EPHA4 and Ephrin A3 are found in the skin of Aohan fine-wool sheep.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.