21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
82 citations
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March 2012 in “Development” Drosha and Dicer are essential for hair follicle health and preventing DNA damage in skin cells.
2 citations
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March 2019 in “Journal of Histochemistry and Cytochemistry” Neuronatin is found in specific cells within rat testis, hair follicles, tongue, and pancreas, suggesting it has various roles in tissue development and function.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
95 citations
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
27 citations
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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.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
1 citations
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
4 citations
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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.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
39 citations
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September 2007 in “BMC developmental biology” Neuregulin3 affects cell development in the skin and mammary glands.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
3 citations
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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.
57 citations
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January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
175 citations
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August 1997 in “Nature Genetics” 4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
96 citations
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October 2000 in “The FASEB Journal” The p75 neurotrophin receptor is important for hair follicle regression by controlling cell death.
27 citations
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September 1999 in “Journal of Investigative Dermatology” Human skin cells contain Protease Nexin-1, and male hormones can decrease its levels, potentially affecting hair growth.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers found key regions in the mouse hairless gene that control its activity in skin and brain cells, affecting hair follicle function.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.