Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain 2005;128: 1847-54.Dittmer D. Gain of function mutations in p53. Nat Genet. 1993;4:42-6.Dittmer, D. et al. Gain of function mutations in p53. Nat. Genet. 4, 42-46 (1993)....
Historically, dominant gain-of-function (GOF) mutations have provided an incredibly powerful means for determining gene position within a regulatory cascade ([89] for example). The availability of low- and high-copy plasmid libraries in which the expression of every yeast open reading frame (ORF)...
Germline heterozygous gain-of-function (GOF) mutations ofNFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations ...
Somatic loss-of-function mutations in the gene encoding tumor suppressor protein p53 (TP53) are frequently observed in various cancers. However, numerous studies suggest that TP53 regulates malignant phenotypes by gain-of-function (GOF) mutations. Here we demonstrate that a TP53 GOF mutation promotes...
BENTA (B cell Expansion with NF-κB and T cell Anergy) is a novel lymphoproliferative disorder caused by germline, gain-of-function (GOF) mutations in the lymphocyte-restricted scaffolding protein CARD11. Similar somatic CARD11 mutations are found in lymphoid malignancies such as diffuse large B ...
Related to Gain-of-function:conditional mutant mu·ta·tion (myo͞o-tā′shən) n. 1.The act or process of being altered or changed. 2.An alteration or change, as in nature, form, or quality. 3.Genetics a.A change in the nucleotide sequence of the genome of an organism or viru...
摘要: Gain of function mutations describes mutations that result in new (protein) functions in heterozygous individuals. Huntington's DiseaseLoss of Function MutationMendelian Forms of Human Hypertension... DOI: 10.1007/3-540-29623-9_7112 被引量: 69 年份: 2005 收藏...
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations...
Of note, we found that the R282W mutant was significantly associated with shorter survival time and earlier onset age of first tumor in the selected Li–Fraumeni syndrome patients, as compared with other hot spot gain-of-function (GOF) mutations.9 Studies on non-small-cell cancer patients ...
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 pathogenic missense mutations associated with different molecular mechanisms. We observe striking differences between ...