2 citations
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May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
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.
4 citations
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October 2021 in “Scientific Reports” NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
January 2016 in “Human & Experimental Toxicology” A specific DNA sequence caused hair loss in male mice by activating immune cells and increasing a certain immune signal.
July 2022 in “Journal of Investigative Dermatology” Dkk4 is necessary for the initial development and arrangement of hair follicles.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
A KRT32 gene variant causes loose anagen hair syndrome.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
31 citations
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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.
1 citations
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January 2022 in “Cell Biology International” Changing CDK4 levels affects the number of stem cells in mouse hair follicles.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MEF2C is crucial for normal hair cycle progression.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
Understanding genetics is crucial for treating heart and skin diseases.
May 2025 in “Experimental Dermatology” A new genetic tool improves the study of hair growth and potential hair disorder treatments.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
47 citations
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September 2004 in “Journal of Biological Chemistry” Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
8 citations
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January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.