17 citations
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June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
2 citations
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February 2022 in “Human Gene Therapy” Increasing miR-149 reduces hair follicle stem cell growth and hair development by affecting certain cell growth pathways.
7 citations
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October 1985 in “Genetics Research” Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
1 citations
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January 2026 MicroRNA-200 prevents sebaceous gland development by inhibiting SOX9 and cell cycle progression.
3 citations
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August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
2 citations
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October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
August 2026 in “Scientific Reports” FAM19A5 slows wound healing by stopping skin cell movement.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
99 citations
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August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
January 1999 in “Journal of Investigative Dermatology” 11 citations
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January 2015 in “Journal of cellular physiology” HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
May 2022 in “The journal of immunology/The Journal of immunology” FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
26 citations
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April 1996 in “Journal of Investigative Dermatology” 26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
46 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
19 citations
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December 2015 in “Journal of Investigative Dermatology” The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
14 citations
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October 2002 in “Journal of cutaneous pathology” MAP-2 is crucial for the structure of hair follicles and nails.
September 2019 in “Journal of Investigative Dermatology” Sox13 is a new marker for early hair follicle development and differentiation.
114 citations
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
30 citations
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January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
Whiskers can form without sensory nerves or Foxd1, thanks to Meis2 in mesenchymal cells.
April 2020 in “The FASEB Journal” Loss of Rap1 protein speeds up heart aging in mice.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” ZDHHC17 methylation may help treat or identify facial skin aging.