总的来说,GoF研究的科学价值与潜在风险之间的平衡,是当前科学界亟需解决的重要问题。通过加强对GoF研究的监管,提升公众的透明度和理解,科学家与政策制定者才能更好地合作,以确保在追求科学进步的同时,也能有效保障公众的健康与安全。 伦理与政策:应对GoF研究的全球治理框架 GoF研究的伦理问题引发了广泛的讨论,尤其是在...
Gain-of-function mutation in Nav1. 7 in familial erythromelalgia induces bursting of sensory neurons. Brain 2005; 128(8): 1847-1854.Dittmer, D. et al. Gain of function mutations in p53. Nat. Genet. 4, 42-46 (1993).Dittmer D. Gain of function mutations in p53. Nat Genet. 1993;4...
inoffunction,GOF)的变异造成的,GOF可以是蛋白结构改变而发生蛋白功能激活,也可以是影响蛋白的表达或者降解而 造成蛋白剂量升高。对于因基因GOF造成的疾病,致病变异常常集中表现为一种变异类型,或者集中于特定位点,容易形成热点突变,此类疾病多 为显性遗传。蛋白结构改变-蛋白功能激活影响表达或降解导致蛋白剂量增加GOF变异...
Gain of Function, GOF单基因致病机理功能获得单基因病的发病机理单基因病的发病机理绝大多数单基因病是由于基因所编码的蛋白质的质和或量的改变所引起。绝大多数单基因病是由于基因所编码的蛋白质的质和或量的改变所引起。失去功能失去
Define Gain-of-function. Gain-of-function synonyms, Gain-of-function pronunciation, Gain-of-function translation, English dictionary definition of Gain-of-function. n. 1. The act or process of being altered or changed. 2. An alteration or change, as in n
Background In recent years, germline gain-of-function (GOF) mutations in signal transducer and activator of transcription 3 ( STAT3 ) have been identified as a cause of early-onset multiorgan autoimmune diseases with the widespread use of next-generation sequencing, and targeted therapies such as...
(GOF) mutants are now shown to bind to a unique DNA sequence in the CTNNB1 gene promoter and transactivate its expression. ERG and β-Catenin co-occupy sites at pyrimidine synthesis gene (PSG) loci and promote PSG expression, pyrimidine synthesis and PCa growth. β-Catenin inhibition by ...
The project focuses on STAT1 gain-of-function (GOF), a monogenic inborn error of immunity (IEI). IEIs are rare inherited disorders that compromise the immune system, leading to increased susceptibility to pathogens, autoimmunity, autoinflammation, allergies, and sometimes malignancies. These conditions...
(GOF) experiments that result in an increase in the transmission and/or pathogenicity of potential pandemic pathogens (PPPs) are outweighed by concerns over biosecurity and biosafety. In this Viewpoint article, proponents and opponents of GOF experiments discuss the benefits and risks associated with...
While there has been much focus on how mutations can disrupt protein structure and thus cause a loss of function (LOF), alternative mechanisms, specifically dominant-negative (DN) and gain-of-function (GOF) effects, are less understood. Here, we investigate the protein-level effects of ...