14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
28 citations
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November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
39 citations
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December 1998 in “Journal of Cell Science” The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
1 citations
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November 2024 in “European Journal of Endocrinology” Higher childhood DHEAS levels are linked to advanced puberty and DNA changes.
July 2017 in “Cancer Research” Polyamines help repair DNA breaks and may influence cancer development.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
191 citations
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September 2011 in “Cell stem cell” Hair follicle stem cells use specific chromatin changes to control their growth and differentiation.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.