January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
3 citations
,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” Certain genetic changes in the KAP22-1 gene are linked to better wool quality in Egyptian sheep.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
45 citations
,
March 1997 in “Journal of Investigative Dermatology” 29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
24 citations
,
October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.
62 citations
,
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.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
13 citations
,
June 2024 in “Asian Pacific Journal of Cancer Prevention” The (+) enantiomer of YH239-EE effectively kills breast cancer cells.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
57 citations
,
July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
20 citations
,
May 2011 in “Journal of Clinical Investigation” The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
July 2025 in “Journal of Investigative Dermatology”
10 citations
,
May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
40 citations
,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
2 citations
,
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.