144 citations
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March 2013 in “Circulation Research” K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
84 citations
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May 2008 in “Biological Chemistry” Human tissue kallikreins help regulate skin barrier functions and affect skin health.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
38 citations
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December 2006 in “Journal of Investigative Dermatology” Keratin patterns in hair follicles help understand hair growth and potential hair and nail disorders.
100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
10 citations
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
50 citations
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February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
4 citations
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July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
January 2019 in “Columbia Academic Commons (Columbia University)” TRPV3 and TRPV6 channels change structure to regulate calcium and heat responses.
9 citations
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January 2017 in “Virchows Archiv” LGR5 and LGR6 are expressed differently in various skin tumors, which may offer clues about their origins.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
1 citations
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September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
January 2019 in “Advances in stem cells and their niches” Krox20 is important for cell differentiation in the brain and hair follicles.
14 citations
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
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.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
7 citations
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September 2019 in “Journal of Cellular Physiology” Akt2 protein is essential for normal cell division in early mouse embryos.
50 citations
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
32 citations
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July 2018 in “FEBS letters” A specific protein complex increases the activity of a plant enzyme, but this action is not required for plant root hair growth.
33 citations
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February 2016 in “Journal of Experimental Botany” ROOT HAIR SPECIFIC 10 (RHS10) reduces the length of root hairs in Arabidopsis plants.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.
35 citations
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April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.