April 2019 in “Journal of the Endocrine Society” An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
119 citations
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August 2010 in “Journal of Investigative Dermatology” Increased 11β-HSD1 activity in skin may contribute to aging and could be targeted to reduce aging effects.
4 citations
,
August 2023 in “Biomedicine & Pharmacotherapy” Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
2 citations
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June 2018 in “International Journal of Pharmacological Research” Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
52 citations
,
October 2010 in “Antiviral Therapy” New treatments for Hepatitis C show promise but need more research to confirm their safety and effectiveness for clinical use.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
1 citations
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October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
70 citations
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March 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Blocking a specific enzyme might help treat obesity and diabetes, but more research is needed to ensure it's safe.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
July 2025 in “Journal of Investigative Dermatology” RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
January 2022 in “Clinical Cases in Dermatology” An 11-year-old girl with severe hair loss was successfully treated with a new combination therapy.
136 citations
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April 2013 in “Clinical Cancer Research” The drug IPI-926 is safe at 160 mg daily and may help treat certain tumors, especially basal cell carcinoma.
May 2011 in “Psychiatric News” Horizant has risks like other seizure drugs, Johnson & Johnson misled about Risperdal, and Quanterix found a possible link between brain oxygen loss and Alzheimer's markers.
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.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” HDAC inhibitors like Vorinostat and Entinostat may encourage hair regrowth and could be new treatments for hair loss conditions.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
35 citations
,
April 2009 in “Journal of Neuroscience Research” HDAC inhibitors help brain cells grow and improve brain function.
August 2024 in “Biomolecules & Therapeutics” A new compound, HTPI, promotes hair growth by protecting cells from damage and regulating energy use.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
1 citations
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April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.