18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
1 citations
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October 2019 in “PubMed” Removing the p75 gene in mouse skin cells didn't affect their skin or hair growth.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
22 citations
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June 2017 in “Stem cell reports” PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
19 citations
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August 2012 in “Cell death and differentiation” Intu gene is crucial for hair follicle formation by helping keratinocytes differentiate through primary cilia.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” The protein p21 is more abundant in normal skin cells than in melanoma cells and may help protect against melanoma, with UVB light affecting its levels.
18 citations
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December 2009 in “Canadian Journal of Animal Science” The BMP2 gene is more active in the early growth phase of Cashmere goat hair and may affect hair regeneration and textile production.
5 citations
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June 2008 in “British Journal of Dermatology” 9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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.
165 citations
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January 2006 in “Molecular Medicine” Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
36 citations
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October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
October 2021 in “Experimental Dermatology” Certain genes and proteins may help diagnose and treat primary cicatricial alopecia.
1 citations
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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.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
March 1998 in “Journal of dermatological science” Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
8 citations
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June 2019 in “Scientific Reports” Increased PPARGC1α relates to hair thinning in common baldness.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
12 citations
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October 2006 Matriptase imbalance contributes to cancer development and spread.
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.
8 citations
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January 2012 in “JIMD reports” A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
8 citations
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March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.