30 citations
,
December 2011 in “Journal of biological chemistry/The Journal of biological chemistry” Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
4 citations
,
May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
8 citations
,
March 2023 in “International Wound Journal” IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
80 citations
,
June 2002 in “Molecular Biology of the Cell” Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
32 citations
,
January 2020 in “Journal of Molecular Histology” K31 can identify clear secretory cells in human sweat glands.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
60 citations
,
November 2013 in “Development” Keratin 79 marks a new group of cells that are key for creating and repairing the hair follicle's structure.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
19 citations
,
July 1994 in “Journal of Dermatological Science” Human hair keratin genes are similar to mouse genes and are specifically expressed in hair follicles.
25 citations
,
September 1995 in “Biochemistry and Cell Biology” High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
27 citations
,
November 1991 in “Journal of Investigative Dermatology”
1 citations
,
January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
21 citations
,
December 1991 in “Annals of the New York Academy of Sciences” Most mouse hair keratin genes are on chromosomes 11 and 15.
57 citations
,
July 2000 in “Toxicology Letters” K6/ODC transgenic mice are effective for quickly identifying cancer-causing chemicals.
3 citations
,
August 2018 in “Journal of Structural Biology” KAP8.1 protein is crucial for hair structure and interacts with keratin 85.
3 citations
,
October 2024 in “Animals” An allele of the KRTAP13-2 gene may improve wool quality in sheep.
April 2016 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Sox9 is important in the development of tumors in domestic animals.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
7 citations
,
July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.