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September 2014 in “Nature reviews. Drug discover/Nature reviews. Drug discovery” Specific immune cells cause alopecia areata and blocking certain proteins can prevent it.
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.
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
January 2021 in “Pediatric Oncall” Autoimmune hepatitis in children often affects girls and can be treated successfully with medication.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
November 2025 in “Journal of Investigative Dermatology” Certain CD8+ T cells attack hair follicles in alopecia areata, suggesting they could be targeted for treatment.
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
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January 2000 in “Fetal Diagnosis and Therapy” Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
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January 2024 in “Clinical, cosmetic and investigational dermatology” A child with a rare vitamin D-resistant condition improved with treatment.
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September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
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August 2020 in “CRC Press eBooks” Tabby mutations in mice affect hair follicle development and help study genetic mapping and certain medical conditions.
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September 2024 in “Biomolecules and Biomedicine” Total glucosides of paeony may help treat alopecia areata by reducing inflammation and hair loss.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
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May 2023 in “Journal of Dermatological Science” Reduced SIRT1 in hair cells may cause alopecia areata by triggering immune responses.
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March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
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March 2024 in “Cell communication and signaling” Lack of sleep in mice leads to prostatitis by reducing certain hormones and activating an inflammatory pathway, which can be temporarily fixed with normal sleep.
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
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June 2025 in “Archives of Dermatological Research” Stopping TNFα inhibitors can help children regrow hair lost due to the medication.
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November 1995 in “The EMBO Journal” Blocking EGFR in mice causes hair loss and skin changes.
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July 1994 in “Journal of Dermatological Science” Grafted human scalp samples on mice can produce human hair, useful for studying hair genetics.
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.