Seattle, United States. In Unknown Journal, 2014
The diagnosis is confirmed by the presence of biallelic pathogenic variants in one of four genes (HARS2, HSD17B4, LARS2, or CLPP); to date, however, biallelic pathogenic variants in one of these four genes have been identified in individuals in seven families only.
Promoter methylation of cyclin A1 is associated with human papillomavirus 16 induced head and neck squamous cell carcinoma independently of p53 mutation.
Münster, Germany. In Mol Carcinog, 2011
The promoter methylation status of 12 genes (TIMP3, CDH1, CDKN2A, DAPK1, transcription factor 21 (TCF21), CD44, MLH1, MGMT, RASSF1, cyclin A1 (CCNA1), LARS2, and CEBPA) was evaluated by methylation-specific polymerase chain reaction in 55 primary HNSCC and 31 controls.