CYLD皮肤综合征(CCS)的英文名字是CYLD cutaneous syndrome(CCS)。基因解码表明:CYLD皮肤综合征(CCS)是由CYLD基因的突变引起的。CYLD基因是一个抑癌基因,它编码了CYLD蛋白,该蛋白在细胞内起到负调控作用,参与调控细胞增殖、凋亡和炎症反应等过程。CYLD基因突变会导致CYLD蛋白功能异常,进而引发CYLD皮肤综合征。
Head and Neck Cancer, Cylindromatosis (CYLD), The CYLD cutaneous syndrome, Turban Tumor Syndrome, Brooke-Spiegler Syndrome (BSS), Multiple Familial Trichoepithelioma (MFT1), Familial Cylindromatosis (FC), tumorigenesis, Deubiquitinating (DUB), Nuclear Factor-kB (NF-kB), TNF-receptor associated ...
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome[J]. Nat Commun, 2019, 10(1):4717. 收稿日期 :2022-08-11 引用本文:朱家平,姜祎群.CYLD基因抗肿瘤机制及其在皮肤附属器肿瘤中的研究进展[J/CD].肿瘤综合治疗电子杂志,2022,8(4):6-9. ...
cylinder-like structures, which are eponymous to the disease. It has also been reported that mutations inCYLDare implicated in multiple skin appendage tumors, including familial trichoepitheliomas and spiradenomas [3,4], collectively unified under the umbrella term CYLD cutaneous syndrome [5]. ...
Cutaneous Adnexal Cylindroma of Breast: Epithelial Immunoreactivities for GATA-3, Mammaglobin, and E-Cadherin Do Not Equate to a Mammary Ductal Neoplasm Mosialos, "Activation of peroxisome proliferator-activated receptor gamma in mammary epithelial cells upregulates the expression of tumor suppressor Cy...
Variations and related benign follicular tumors consist of trichoblastoma, with predominantly germinative basaloid cells, cutaneous lymphadenoma (aka lymphotropic adamantoid trichoblastoma) with a prominent lymphocytic infiltrate in the basaloid nests, and desmoplastic trichoepithelioma with small cords and ...
After the initial characterization of CYLD mutation in familial cylindromatosis [8], subsequent publications identified a variety of mutations in these cutaneous tumor syndromes [38, 39]. A recent review of the literature described 95 unique syndrome-associated mutations of CYLD, most occurring ...
The presence of a spectrum of follicular differentiated tumors ranging from benign trichoepitheliomas to infundibular BCC, and eventually nodular BCCs, suggests that some trichoepitheliomas underwent the malignant transformation into BCCs. Dear Editor, CYLD cutaneous syndrome (CCS) is a rare autosomal ...
Multiple Facial Trichoepitheliomas and Vulval Cysts: Extending the Phenotypic Spectrum in CYLD Cutaneous SyndromeThis case study describes a unique incidence of multiple trichoepitheliomas in combination with epidermoid cysts of the vulva in association with a novel pathogenic mutation in CYLD , ...
CYLD cutaneous syndromegenetic counselinggenetic testing of the skinmosaicismparent-to-child transmissionBackground: Clusters of rare cylindroma or spiradenoma tumors are a recurrent clinical presentation, yet conventional genetic testing results in individuals with these tumors are frequently normal.Arefi,...