January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
July 2025 in “Genome biology” HT-scCAT-seq helps understand gene regulation in embryonic skin development.
417 citations
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September 2005 in “PLoS biology” Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
1 citations
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August 2025 in “Epigenetics & Chromatin” H3K4me3 helps control RSPO3 to influence hair growth and development.
4 citations
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September 2016 in “World Rabbit Science” High wool density in Rex rabbits is linked to specific gene activity affecting hair follicle development.
52 citations
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
42 citations
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July 2015 in “PLoS ONE” The study revealed the detailed structure of a keratin dimer, aiding understanding of how intermediate filament proteins function.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
82 citations
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May 2009 in “Development” EGF and KGF signalling prevent hair follicle formation and promote skin cell development in mice.
37 citations
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February 2007 in “Experimental Dermatology” Increasing PDCD4 protein may help prevent or treat some skin cancers.
9 citations
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October 2022 in “Nature Communications” The DiLiCre mouse model is an effective tool for precise genome editing using light.
6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
9 citations
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April 2006 in “American Journal of Pathology” SGK3 is essential for proper hair growth and health.
January 2025 in “Nature Communications” CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.
6 citations
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October 2020 in “Journal of Cellular and Molecular Medicine” 3D culture helps maintain hair growth cells better than 2D culture and identifies key genes for potential hair loss treatments.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
226 citations
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January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
1 citations
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August 2015 in “Experimental Dermatology” KIT's role in skin cells is not entirely independent, as other cells can influence its function.
26 citations
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January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
4 citations
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January 2004 in “Biological and Pharmaceutical Bulletin” AgK114 protein helps in hamster skin injury recovery.
1398 citations
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May 2008 in “Histochemistry and Cell Biology” Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
January 2025 in “International Journal of Genomics” Three genes, BMP4, POSTN, and WNT5A, may help treat keloids.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzymes Tet1, Tet2, and Tet3 are important for the development of hair follicles and determining hair shape by controlling hair keratin genes.
1 citations
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August 2020 in “CRC Press eBooks” Hair growth can be influenced by manipulating keratin and growth factor genes.
July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.