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January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
November 2025 in “Journal of Investigative Dermatology” Combination therapy, including JAK inhibitors, effectively regrows hair and reduces severity in Black children with stubborn Alopecia Areata.
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January 2024 in “Curēus” Upadacitinib significantly improved a man's severe scalp condition when other treatments failed.
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
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July 1991 in “PubMed” MRI can show unusual brain changes in adrenomyeloneuropathy.
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
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April 2011 in “AJP Endocrinology and Metabolism” Androgens increase muscle mass by promoting myoblast growth through ornithine decarboxylase.
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
January 2025 in “The Egyptian Journal of Hospital Medicine” High levels of NEDD4-TV3 and IGF-1 may predict and contribute to keloid formation.
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June 2016 in “Biomaterials” MAA beads improved wound healing in male mice by activating the Shh pathway, but not in females.
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
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June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
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April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.