26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
January 1999 in “Praxis sociológica” Melanocyte stem cells can become melanoma, resembling human melanoma.
11 citations
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January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
5 citations
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July 2022 in “Radiation Research” The mouse model helps study and develop treatments for radiation-induced saliva reduction.
21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
29 citations
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
38 citations
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November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Understanding normal hair follicle development helps analyze abnormalities in mutant mice.
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.
22 citations
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February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
April 2019 in “Journal of Investigative Dermatology” Removing REDD1 in mice increases skin fat by making fat cells larger and more numerous.
4 citations
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February 2012 in “Chinese Science Bulletin” The MtAnn3 gene affects root hair growth and is influenced by cytokinin.
1 citations
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May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
40 citations
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July 1981 in “Journal of Neuropathology & Experimental Neurology” Copper injections improved symptoms and prevented brain damage in brindled mice.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
71 citations
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June 2001 in “American Journal of Pathology” The p53 protein helps control hair follicle shrinking by promoting cell death in mice.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
3 citations
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April 2010 in “Endocrinology” The mouse model suggests male pattern baldness may be due to an enzyme increasing DHT and higher androgen receptor levels in hair follicles.
8 citations
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October 2020 in “Stem cell research & therapy” DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
193 citations
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May 2008 in “Development” Activating β-catenin can turn skin cells into hair follicles.
1 citations
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January 2025 in “medRxiv” Trichotillomania may have a genetic link to psychiatric disorders.
52 citations
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June 1991 in “Journal of Virology” The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
33 citations
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July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
131 citations
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March 2004 in “The American journal of pathology” Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
21 citations
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August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.