参考文献: 1. Alvarado-Ortiz E, de la Cruz-López KG, Becerril-Rico J, Sarabia-Sánchez MA, Ortiz-Sánchez E, García-Carrancá A. Mutant p53 Gain-of-Function: Role in Cancer Development, Progression, and Therapeutic Approaches.Front Cell Dev Biol.2021;8:607670. 2. Wang H, Guo M, We...
这种精细的筛选方法,不仅揭示了功能丧失(Loss of Function, LOF)和部分功能丧失(Partial Loss of Function, pLOF)突变对细胞增殖、凋亡和生存的不同影响,还为发现可能的功能获得(Gain of Function, GOF)突变提供了新的视角。 这些数据揭示了...
We found that both mutations inside and outside the binding domain, as well as those with gain-of-function and loss-of-function, impact survival. We translated this genetic information into the clinic by performing pathogenic...
根据突变对p53蛋白功能的影响,这些突变通常分为功能丧失(Loss of Function, LOF)、部分功能丧失(Partial Loss of Function, pLOF)和功能获得(Gain of Function, GOF)三种类型。这些变体在细胞增殖、凋亡和肿瘤侵袭中的表现差异,不仅揭示了TP53突变的生物学复杂性,也为临床治疗提供了重要线索。 功能丧失(LOF):守护者...
D, Riffkin C, Huang DCS, Li Wai Suen CSN, Garnham AL, Gibbs P, Visvader JE, Sieber OM, Herold MJ, Fava LL, Kelly GL, Strasser A. Loss-of-Function but Not Gain-of-Function Properties of Mutant TP53 Are Critical for the Proliferation, Survival, and Metastasis of a Broad Range of ...
③功能获得(gain of function,GOF),突变型p53获得了野生型p53缺失时未观察到的额外活性,如与肿瘤抑制因子p63或p73共同聚集,增强细胞转移等。 P53的三种变异类型 TP53在肿瘤形成、进展过程中的变异类型以“功能丧失”为主,其他辅助。基因突变导致p53蛋白功能丧失之后,mut p53无法作为转录因子启动p21蛋白的表达,使得p21...
根据突变对p53蛋白功能的影响,这些突变通常分为功能丧失(Loss of Function, LOF)、部分功能丧失(Partial Loss of Function, pLOF)和功能获得(Gain of Function, GOF)三种类型。这些变体在细胞增殖、凋亡和肿瘤侵袭中的表现差异,不仅揭示了TP53突变的生物学复杂性,也为临床治疗提供了重要线索。
②功能获得(gain of function,GOF),即突变型 p53 蛋白获得致癌的新功能; ③显性负效应(dominant negative effect,DNE),即突变型p53 蛋白抑制同一细胞内野生型 p53 蛋白发挥正常功能; ④对p53正常功能没有影响。截短突变一般导致 p53 正常功能的丧失,但也有研究报道截断的 p53 突变体具有DNE特性。框内突变导致p53...
It is unknown how TP53 gain-of-function (GOF) and non-gain-of-function (non-GOF) mutations affect the prognosis. Methods: We retrospectively examined a cohort of 741 Kaiser Permanente (KP) patients with locally advanced/metastatic PDAC who had NGS performed to determine the association of KRAS...
Dr. Consuelo Bertossi:We looked in detail at the characteristics of TP53 mutations in CLL to determine their impact on survival. We found that both mutations inside and outside the binding domain, as well as those with gain-of-function and loss-of-function, impact survival. We translated this...