2 citations
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May 2013 in “The primary care companion for CNS disorders” A teenage girl's excessive hair growth was caused by a medication for mania, but improved after stopping the medication.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
April 2011 in “The Journal of Urology” Finasteride effectively reduced priapism episodes in children with sickle cell disease without side effects.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
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.
August 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Certain hydroxycinnamate derivatives may effectively inhibit enzymes linked to hair loss with low toxicity.
3 citations
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September 2020 in “Molecular Brain” The anti-viral drug Elvitegravir may protect brain cells from damage related to neurodegenerative diseases.
April 2019 in “Journal of the Endocrine Society” A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
1 citations
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July 2021 in “Clinical and Experimental Dermatology” Finasteride helps reduce hidradenitis suppurativa symptoms in females.
January 2024 in “Pediatric rheumatology online journal” Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
17 citations
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June 2017 in “British Journal of Dermatology” The article concludes that hair loss is a common side effect of drugs treating skin cancer by blocking the hedgehog pathway, but treatment should continue, and more selective drugs might prevent this side effect.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
65 citations
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February 2015 in “Neuro-Oncology” Alisertib was found to be an effective and tolerable treatment for children with recurrent brain tumors.
17 citations
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January 2011 in “The Korean Journal of Hepatology” Vogt-Koyanagi-Harada disease can develop during interferon therapy for chronic hepatitis C.
October 2019 in “European heart journal” Androgen-deprivation therapies increase the risk of certain heart conditions, but testosterone treatment may help.
28 citations
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January 2012 in “Biological & pharmaceutical bulletin” Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
16 citations
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April 2006 in “Pediatrics International” High-dose mizoribine effectively controls symptoms in adolescents with lupus while reducing steroid use, with manageable side effects.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
May 2021 in “Journal of the Endocrine Society” A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
May 2023 in “Reactions Weekly” January 2013 in “Reactions Weekly”
1 citations
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November 2020 in “Journal of The American Academy of Dermatology” GSK-36 downregulation with UTMD improves plaque stability in atherosclerosis treatment.
78 citations
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November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.