14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
100 citations
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March 2006 in “Journal of biological chemistry/The Journal of biological chemistry” Cystatin M/E strongly inhibits cathepsin V and cathepsin L, important for skin formation.
20 citations
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April 1959 in “A M A Archives of Dermatology” Alopecia mucinosa causes red, raised skin patches and hair loss.
1 citations
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September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MicroRNA-148a is crucial for maintaining healthy skin and hair growth by affecting stem cell functions.
April 2019 in “Journal of Investigative Dermatology” FGFR2 signaling controls Merkel cell formation in different skin regions.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
20 citations
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July 2005 in “Experimental dermatology” The fuzzy gene is crucial for controlling hair growth cycles.
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February 2012 in “Journal of cutaneous pathology” The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
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February 1994 in “Experimental dermatology” Melatonin affects mouse skin and may regulate skin functions.
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 protein is important for controlling hair growth cycles.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
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March 2003 in “Journal of cutaneous medicine and surgery” Alopecia mucinosa can be treated successfully with minocycline.
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February 1992 in “Molecular Biology Reports” A specific type II hair keratin was identified and found in hair cortex and tongue cells.
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
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October 2007 in “Journal of Investigative Dermatology” Stem cells in mouse nails are found in the nail matrix and may control nail growth.
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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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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
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March 2008 in “American Journal of Human Genetics” Hair loss gene found on chromosome 3q26.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.