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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
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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.
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
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March 2003 in “International Journal of Cancer” DMBT1 and galectin-3 may help suppress epithelial skin cancer.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
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February 2015 in “Journal of Investigative Dermatology” Ceramide Synthase 4 is essential for normal hair growth and preventing hair loss.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
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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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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
Removing SIX1 in fat cells reduces skin fibrosis.
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January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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January 2013 Glucosylceramides are essential for healthy skin and proper wound healing.
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December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
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January 2025 in “The Journal of Cell Biology” Ceramide Synthase 4 is crucial for maintaining hair follicle stem cells and preventing hair loss.
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April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.