3 citations
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June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
29 citations
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October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
April 2019 in “Journal of Investigative Dermatology” BRG1 is essential for skin cells to move and heal wounds properly.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
83 citations
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May 2011 in “Experimental Dermatology” Sheep have 17 keratin genes, similar to humans, but with different expression patterns affecting wool and hair.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
30 citations
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March 2019 in “Archives animal breeding/Archiv für Tierzucht” The KRTAP15-1 gene affects cashmere fiber thickness in goats.
November 2022 in “Journal of Investigative Dermatology” Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
11 citations
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May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
119 citations
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September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
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October 2024 in “Animals” An allele of the KRTAP13-2 gene may improve wool quality in sheep.
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May 2022 in “International journal of molecular sciences” PRX01, PRX44, and PRX73 are essential for root hair growth in Arabidopsis thaliana.
24 citations
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October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
January 2014 in “eScholarship (California Digital Library)” Lrig1 and Lgr6 stem cells help maintain hair follicles and influence skin cancer development.
215 citations
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November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
July 2025 in “International Journal of Molecular Sciences” Four new genes related to sheep wool were discovered, showing genetic diversity.
July 2025 in “Journal of Investigative Dermatology” 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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
40 citations
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September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
41 citations
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December 1988 in “Journal of Investigative Dermatology”