5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
2 citations
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May 2022 in “Research Square (Research Square)” KGF-1 135 is a stable and effective alternative for treating oral mucositis.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
September 2016 in “Journal of Dermatological Science” A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
5 citations
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February 2008 in “Histopathology”
Understanding genetics is crucial for treating heart and skin diseases.
25 citations
,
October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.
10 citations
,
July 2023 in “Pharmaceutics” Activating PKM2 and Wnt/β-catenin signaling speeds up wound healing.
April 2026 in “Research Square” April 1977 in “Pediatric Research” 5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
39 citations
,
August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
77 citations
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April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
November 2022 in “Research Square (Research Square)” Keratin-associated proteins have ancient origins and were used for different purposes before being adapted for hair in mammals.
4 citations
,
January 2004 in “Biological and Pharmaceutical Bulletin” AgK114 protein helps in hamster skin injury recovery.
5 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
2 citations
,
February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
1 citations
,
May 2024 in “Pediatric Blood & Cancer” Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.