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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
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July 2018 in “Experimental Dermatology” Removing Gata6 causes hair follicle and sebaceous duct enlargement.
Defective nuclear transport may cause gene expression changes in Progeria.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
May 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The research mapped diverse cell types in mouse lacrimal glands, aiding understanding of gland biology and diseases.
July 2024 in “New Phytologist” PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
July 2025 in “Journal of Investigative Dermatology” Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.
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January 2013 in “PLoS ONE” HLA-DRB5 and other genes may be linked to alopecia universalis.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
April 2023 in “Journal of Investigative Dermatology” POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
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January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
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March 2026 in “Folia Histochemica et Cytobiologica” LTBP1 is a key regulator in diseases and a potential target for new treatments.
September 2016 in “Journal of Dermatological Science” The protein aPKCλ is crucial for keeping hair follicle stem cells inactive and for hair growth and regeneration.
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
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December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
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September 2003 in “Development” Stem cell behavior varies with stimuli, and lineage changes can happen without affecting stem cell division.
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April 2016 in “Journal of lipid research” Lipin-1 is important for skin cell differentiation and skin barrier function.
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
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August 2021 in “International journal of molecular sciences” PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.