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301 citations
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October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
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October 2010 in “Biochemical and biophysical research communications” The Gsdma3 gene is essential for normal hair development in mice.
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
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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.
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December 2002 in “Development” Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
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April 2022 in “Frontiers in Physiology” Ptch2 plays a key role in controlling stem cell function and the ability to regenerate after birth.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
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August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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November 2025 in “Journal of Investigative Dermatology” Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.
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