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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
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May 2025 in “Natural Products and Bioprospecting” PEVIII is a promising treatment for Pseudomonas aeruginosa keratitis.
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
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December 2024 in “Journal of Orthopaedic Research®” Aromoline and DRD4 are potential targets for osteoarthritis treatment.
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
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December 2019 in “Archives of the Balkan Medical Union” Injecting platelet-rich plasma into the muscle layer improves intestinal healing and reduces adhesions.
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April 2024 in “Metabolites” Activated protein C helps protect mice from long-term radiation damage.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
January 2026 in “Burns & Trauma” NLRP3 helps control inflammation and repair in wound healing, making it a potential target for treatment.
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.