April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
4 citations
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October 2021 in “Scientific Reports” NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
July 2025 in “Journal of Investigative Dermatology” 38 citations
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October 2001 in “British Journal of Dermatology” Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
28 citations
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January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
5 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
11 citations
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
51 citations
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December 2006 in “Mammalian Genome” October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
2 citations
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November 2004 in “Blood” RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
8 citations
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September 2013 in “Molecular carcinogenesis” Rapamycin reduces skin cell growth and tumor development by affecting cell signaling in mice.
10 citations
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January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
1 citations
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January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
117 citations
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August 1999 in “Nature Genetics” 27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
81 citations
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February 2019 in “Experimental & Molecular Medicine” PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
April 2023 in “Cancer research” KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
September 2025 in “Journal of the American Academy of Dermatology” Ritlecitinib may help treat alopecia areata by protecting hair follicles.
9 citations
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February 2001 in “Journal of Dermatological Science” p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
4 citations
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May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
November 2022 in “Journal of Investigative Dermatology” Short-term treatment with ROCKi increases skin cell growth without changing stem cell features.
1 citations
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April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
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.
50 citations
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December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.