1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
114 citations
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
2 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
1 citations
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January 2025 in “Frontiers in Oncology” REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
70 citations
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December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
11 citations
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May 2008 in “British journal of dermatology/British journal of dermatology, Supplement” Identical p53 gene mutations in different cancers suggest the need for careful treatment.
November 2025 in “Journal of Investigative Dermatology” PCFCL may have unrecognized subtypes and needs more research.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
92 citations
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February 2005 in “Journal of Investigative Dermatology” 34 citations
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January 2004 in “Genomics” A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
November 2020 in “UNC Libraries” Seven new genetic risk areas for prostate cancer were found.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
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.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
6 citations
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March 1996 in “Journal of Investigative Dermatology” November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
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.
1 citations
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November 1983 in “The Lancet” Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
22 citations
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March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
21 citations
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September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.