May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” The researchers reported increased ubiquitination of proteins such as the insulin receptor in CYLD cutaneous syndrome skin tumors, suggesting that CYLD dysfunction may affect protein secretion and signaling processes.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
16 citations
,
January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
44 citations
,
November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
July 2003 in “British Journal of Dermatology” This summary presents papers from the British Society for Dermatopathology but does not report new scientific findings or results.