mutation (mjuːˈteɪʃən) n 1.(Genetics) the act or process of mutating; change; alteration 2.a change or alteration 3.(Genetics) a change in the chromosomes or genes of a cell. When this change occurs in the gametes the structure and development of the resultant offspring may...
Molecular Dynamics SimulationsNeomorphic enzyme activity of isocitrate dehydrogenase 2 (IDH2) enzyme caused by the point mutation of arginine to lysine at 172nd position leads to productionSivangula, SrikanthM, Elizabeth SobhiaSocial Science Electronic Publishing...
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-H... Registered report: The common feature of leukemia-associated IDH1 ...
NeomorphicA mutation that displays a new phenotype of any structural or other change that evolved recently. (See Muller HJ 1932 Proc 6th Int Congr Genet 1:213).doi:10.1007/978-1-4020-6754-9_11260George P. RédeiSpringer NetherlandsEncyclopedia of Genetics Genomics Proteomics & Informatics...
Abstract PIK3R1 (p85α regulatory subunit of PI3K) is frequently mutated across cancer lineages. Herein, we demonstrate that the most common recurrent PIK3R1 mutation PIK3R1(R348∗) and a nearby mutation PIK3R1(L370fs), in contrast to wild-type and mutations in other regions of PIK3R1, con...
Here, we present the first prototypical example of neomorphic mutation in an E3 ubiquitin ligase. We show that medulloblastoma-associated hotspot mutations in the Kelch domain of KBTBD4 promote the recruitment of CoREST as a neo-substrate for ubiquitylation and degradation. CoREST1/2/3 form criti...
P-values were calculated using a two-tailed Student's t-test. Baseline mutation rates for the experiments ranged from 5.6 to 9.6%. is a 'neomorphic' activity of aberrantly expressed MAGE-A4 in cancer cells. Remarkably, although several MAGE-E3 ubiquitin ligase complexes have been characterized25...
idh-1 neomorphic mutation confers sensitivity to vitamin B12 in Caenorhabditis elegansdoi:10.26508/lsa.202402924Ponomarova, OlgaStarbard, Alyxandra N.Belfi, AlexandraAnderson, Amanda V.Sundaram, Meera V.Walhout, Albertha J. M.Life Science Alliance...
(2014) A recurrent neomorphic mutation in MYOD1 defines a clinically aggressive subset of embryonal rhabdomyosarcoma associated with PI3K- AKT pathway mutations. Nature Genetics 46: 595-600. doi: 10.1038/ng.2969 PMID: 24793135Kohsaka, S. et al. A recurrent neomorphic mutation in MYOD1 defines ...
show that the p85α mutants encoded by PIK3R1R348, the most common PIK3R1 mutation in human cancers, and PIK3R1L370fs localize to the nucleus where they facilitate nuclear JNK pathway activation and that cancer cells expressing these mutants are hypersensitive to MEK and JNK inhibitors....