13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
1 citations
,
January 2014 in “Assiut Veterinary Medical Journal/Maǧallaẗ Asyūṭ al-ṭibiyyaẗ al-baytariyyaẗ” Emaciated cattle in Aswan have poor health due to parasites and low blood nutrients.
September 2023 in “Journal of the American Academy of Dermatology” Guselkumab effectively reduces fatigue in Psoriatic Arthritis patients over two years.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
2 citations
,
July 2022 in “Frontiers in Medicine” The cause of Frontal fibrosing alopecia, a type of hair loss, is complex, likely involving immune responses and genetics, but is not fully understood.
27 citations
,
September 2013 in “The FASEB Journal” Losing Memo protein shortens lifespan and affects health.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
May 2017 in “Journal of The American Academy of Dermatology” An intact skin barrier is crucial to prevent infection in cases of tether-induced tenosynovitis.
3 citations
,
August 2017 in “Clinical case reports” A rare skin condition causes red and dark patches on the face and limbs.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
4 citations
,
January 2022 in “OAlib” Antioxidants might help with Long Covid by addressing oxidative stress and nutrient imbalances.
5 citations
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April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
11 citations
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January 2013 in “Revista Brasileira De Terapia Intensiva” Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
37 citations
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December 2020 in “PLANT PHYSIOLOGY” A mutant FERONIA gene affects root hair growth at high temperatures.
14 citations
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May 2013 in “American Journal of Physiology-endocrinology and Metabolism” Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
28 citations
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July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
1 citations
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May 2021 in “Annals of the rheumatic diseases” Tofacitinib is a promising treatment for children with rheumatic diseases.
14 citations
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October 2018 in “PloS one” Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
1 citations
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
63 citations
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January 1971 in “Acta Medica Scandinavica” Replenishing iron after phlebotomy can cause relapse in porphyria cutanea tarda.
April 2019 in “Journal of Investigative Dermatology” Frontal Fibrosing Alopecia involves disrupted cholesterol pathways, fibrosis, and increased mast cells.
January 2016 in “Institutional Repositories DataBase (IRDB)” Sebaceous glands help study fatty acid transporters and binding proteins.
163 citations
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October 2001 in “EMBO journal” Overexpressing follistatin in mice delays wound healing and reduces scar size.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
1 citations
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January 2024 in “Nature communications” Activating TLR5 in the gut can extend lifespan and improve health in aged mice.
2 citations
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January 2019 in “Case Reports in Dermatology” A 66-year-old woman's thick scalp and hair loss were confirmed as lipedematous alopecia, a rare condition possibly influenced by genetics, with no effective treatment known.
2 citations
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April 2024 in “Medical Journal Armed Forces India” August 2024 in “Skin Research and Technology” TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
January 2026 in “Annals of Clinical Endocrinology and Metabolism” Restoring NAD⁺ may help with aging and chronic diseases, but more research is needed.