47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
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.
33 citations
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June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Thymic stromal lymphopoietin (TSLP) promotes hair growth by stimulating specific skin cells.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
28 citations
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November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
84 citations
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May 2008 in “Biological Chemistry” Human tissue kallikreins help regulate skin barrier functions and affect skin health.
77 citations
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April 2009 in “British Journal of Dermatology” Aromatase gene variation may increase female hair loss risk.
4 citations
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December 2020 in “Tissue Barriers” Loricrin affects skin immune function and homeostasis.
62 citations
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December 2007 in “Journal of Cellular and Molecular Medicine” Kremen is crucial for proper development and preventing tumors by regulating Wnt signaling.
24 citations
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June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” FOXA1 and CCL2 genes are more active in women with PCOS, varying by phenotype.
April 2019 in “Journal of Investigative Dermatology” Researchers created a new mouse model for studying scleroderma.
6 citations
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October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
6 citations
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November 2022 in “Antioxidants” OR2AT4 helps reduce aging and cell damage in human skin cells.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
39 citations
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December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
37 citations
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July 1999 in “The EMBO Journal” Overexpression of certain genes can shorten hair by disrupting the hair-growth cycle.
6 citations
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August 2022 in “Science immunology” Foxn1 gene regulation is crucial for thymus development but not for hair growth.
5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
31 citations
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December 2023 in “GeroScience”
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.
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.
3 citations
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.