January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
1 citations
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January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The study developed a mouse model for Alopecia Areata that responds to treatment, useful for future research.
33 citations
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October 2006 in “European Journal of Immunology” The CD44-CD49d complex boosts T cell activation and survival in autoimmune disease.
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.
81 citations
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March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
2 citations
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November 1996 in “Transplantation” Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
April 2026 in “Journal of Cutaneous Pathology” Alopecia can be caused by multicentric reticulohistiocytosis.
January 2002 in “Academic Journal of Kunming Medical College” Human-hair keratin artificial tendons are biocompatible and degrade well in rabbits.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
April 2014 in “Zhonghua shiyan waike zazhi” Improved wigs showed good compatibility and no adverse reactions after transplantation.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
Farudodstat can prevent hair follicle immune damage linked to alopecia areata.
39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
Lnc056 helps hair follicle stem cells grow by increasing TRIP6 expression.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
114 citations
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July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
1540 citations
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October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
1160 citations
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November 2018 in “Physiological Reviews” The document concludes that better targeted treatments are needed for wound healing, and single-cell technologies may improve cell-based therapies.
773 citations
,
August 2017 in “International Journal of Molecular Sciences” The secretions of mesenchymal stem cells could be used for healing without using the cells themselves.
474 citations
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January 2012 in “Chemistry & biology” Proteasome inhibitors are promising treatments for various cancers, autoimmune diseases, and other conditions.
421 citations
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April 2012 in “The New England Journal of Medicine” Alopecia Areata is an autoimmune condition causing hair loss with no cure and treatments that often don't work well.
379 citations
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May 2016 in “Cochrane library” Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.
370 citations
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September 1999 in “The New England Journal of Medicine” Finasteride and minoxidil are effective for hair loss, but continued research is needed for better treatments.
320 citations
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December 2018 in “Frontiers in Immunology” Changing how mesenchymal stromal cells are grown can improve their healing abilities.
291 citations
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January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.