22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
5 citations
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March 2017 in “Gene” CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
92 citations
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April 1999 in “The journal of investigative dermatology/Journal of investigative dermatology” Nonpalmoplantar skin cells can be made to express keratin 9 by interacting with palmoplantar fibroblasts.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
7 citations
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July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.
December 2022 in “Research Square (Research Square)” The QuantAnts machines can find cancer markers and create CRISPR targets for them.
April 2023 in “Journal of Investigative Dermatology” Krox20 (Egr2) is important for the function of epithelial stem cells.
1 citations
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
87 citations
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September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
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.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
January 2011 in “Anhui nongye kexue” The vector successfully directed specific gene expression in hair follicles.
51 citations
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September 2012 in “Gene” The research identified a gene in sheep important for wool quality, which could help improve wool traits.
14 citations
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April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
119 citations
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August 2008 in “BMC Evolutionary Biology” KRTAP genes evolved early in mammals, leading to diverse hair traits.
3 citations
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December 2013 in “Journal of Cell Science” Keratin 79 cells help form and regenerate hair canals.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
144 citations
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March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.