Defective nuclear transport may cause gene expression changes in Progeria.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
42 citations
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January 2017 in “Genes” The gene KAP22-1 affects wool yield and fiber shape in sheep.
April 2012 in “Development” Rac1 is crucial for normal hair structure and pigmentation.
November 2022 in “Research Square (Research Square)” Keratin-associated proteins have ancient origins and were used for different purposes before being adapted for hair in mammals.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
March 2007 in “Journal of Cell Science” K10 may not prevent tumors as previously thought and might increase benign tumor risk.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
138 citations
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June 2004 in “Journal of Investigative Dermatology” Involucrin gene expression is controlled by specific proteins and signaling pathways.
October 2024 in “Frontiers in Oncology” Keratin 18 helps diagnose and predict cancer progression and affects cancer growth and spread.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
26 citations
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January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
20 citations
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April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
1 citations
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April 2010 in “Digital WPI” CLK1 is needed for skin cells to become epidermal cells but not sebocytes.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
6 citations
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March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
34 citations
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May 2001 in “Endocrinology” Mrp3 helps in wound healing and hair growth.
287 citations
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July 2001 in “Journal of Cell Science” The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
64 citations
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
27 citations
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November 1991 in “Journal of Investigative Dermatology”
74 citations
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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.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
175 citations
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August 1997 in “Nature Genetics”
17 citations
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October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
23 citations
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
17 citations
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February 2015 in “Experimental Dermatology” Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.