1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
10 citations
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December 2011 in “PubMed” Methotrexate effectively managed SAPHO syndrome symptoms when other treatments failed.
April 2023 in “Journal of Investigative Dermatology” Mitochondrial dysfunction contributes to skin aging and hair loss.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
June 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” New technologies show potential for better understanding and treating skin conditions with abnormal mucin, but more research is needed for clinical use.
6 citations
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May 2022 in “Journal of Organometallic Chemistry” The process efficiently converts α-pinene oxide to campholenic aldehyde using a special catalyst, achieving high yields quickly.
January 2023 in “Al-Azhar International Medical Journal /Al-Azhar International Medical Journal” Acne patients have higher mTOR gene expression.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
1 citations
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January 2018 in “Indian dermatology online journal” The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 protein helps keep sebaceous gland size and cell growth in check.
35 citations
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October 2017 in “Trends in Molecular Medicine” Mice with enhanced regeneration abilities may help develop new regenerative medicine therapies.
March 2014 in “Journal of The American Academy of Dermatology” Mycophenolic acid may help hair grow by activating pathways important for hair growth.
467 citations
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May 1999 in “Molecular Cell” Activating c-Myc in skin causes rapid cell growth and changes, but these effects are reversible.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair follicles protect melanocytes from sun damage, helping them replenish skin.
July 2025 in “Malaria Journal” Resolving malaria-related lung issues doesn't rely on Alox12 and leaves some inflammation.
56 citations
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October 2007 in “Journal of Biological Chemistry” Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
2 citations
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May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
7 citations
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June 2020 in “Journal of The European Academy of Dermatology and Venereology” Genetic variants affect minoxidil hair loss treatment success.
January 2012 in “Journal of Investigative Dermatology” Small molecule DMF improves psoriasis and multiple sclerosis, adult skin cells can be made to grow new hair, certain skin cells initiate hair growth, IL-17C controls gut health and can cause skin inflammation, and skin cells produce IL-17 that can lead to psoriasis.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
2 citations
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January 2020 in “Skin Appendage Disorders” Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
January 2000 in “The Mouseion at the JAXlibrary (Jackson Laboratory)” The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.
29 citations
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November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.