19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
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September 2003 in “Journal of Clinical Investigation” Overexpressing noggin in mice causes severe osteoporosis.
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March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
6 citations
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October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
October 2014 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” A new type of nerve cell involved in itch perception was discovered.
OCT4B1 and SOX-2 levels are higher in Crohn's and ulcerative colitis patients, possibly aiding tissue repair.
October 2014 in “Dialnet (Universidad de la Rioja)” Snail2 is crucial for hair growth and affects skin cancer development.
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June 2014 in “Nature Communications” Tcf3 helps cells move and heal wounds by controlling lipocalin 2.
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
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.
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
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January 1999 in “Molecular and Cellular Biochemistry” Niacin deficiency makes rats more sensitive to cancer-causing chemicals.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
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January 2025 in “Differentiation” WNT10A is important for tissue development and linked to various human disorders.
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November 1998 in “Cell” β-catenin affects hair growth and can lead to tumors, needing more research for better understanding.
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December 2013 in “PLoS ONE” β1 integrin is essential for the survival, growth, and movement of human epithelial progenitor cells.
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October 2019 in “EMBO molecular medicine” Targeting NCoR1 can help treat heart enlargement and dysfunction.
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July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
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July 2014 in “PLoS ONE” Inactivating β-catenin is essential for chick retina regeneration.
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August 2008 in “Genes & Development” Laminin-511 is crucial for early hair growth and maintaining important hair development signals.
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.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
January 2018 in “Zurich Open Repository and Archive (University of Zurich)” 8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.