January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
April 2023 in “Journal of Investigative Dermatology” Aging changes skin cells, leading to different DNA methylation and gene activity, affecting cell metabolism and aging signs.
1 citations
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April 2024 in “Cells” Corneal cells can potentially revert to stem cells, aiding in repair and regeneration.
Ribonucleotide excision repair is crucial to prevent skin cancer.
75 citations
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March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
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.
33 citations
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August 2000 in “Experimental Cell Research” 30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
April 2013 in “Cancer Research” SKH1 hairless mice have identifiable epidermal stem cells with specific markers.
303 citations
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October 2000 in “Nature” RXRα is crucial for hair growth and skin cell function.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
6 citations
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May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
175 citations
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September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
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January 2010 in “Neoplasma” Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
August 2013 in “eCommons (Cornell University)” Runx1 and CDK inhibitors help keep hair follicle stem cells inactive, affecting their future roles.
3 citations
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July 2017 in “Endogenous locus-driven H-Ras G12V expression induces senescence-like phenotype in primary fibroblasts of the Costello syndrome mouse model” Mouse hair follicle stem cells have a flexible chromatin state that supports skin health and hair growth.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
122 citations
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July 1994 in “Journal of Investigative Dermatology” April 2024 in “Anais Brasileiros de Dermatologia” 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.
53 citations
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
Ribonucleotide excision repair is crucial to prevent skin cancer.
30 citations
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June 1993 in “The Journal of Cell Biology” The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
49 citations
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March 2017 in “PubMed” Enhancers and super-enhancers are key in controlling specific gene activity and can play a role in cancer development.
89 citations
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May 2005 in “Stem Cells” Mouse skin has special cells in the epidermis that decrease with age and are linked to keratinocyte stem cells.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.