The most common TP53 abnormalities are missense mutations, which induce nuclear accumulation of the mutant protein with a strongly positive IHC staining.
Resistance to nalidixic acid is a marker for reduced susceptibility to fluoroquinolones, and mutations which induce initial nalidixic acid resistance often precede the evolution of fluoroquinolone resistance [ 16].
Examples include SMN2 mutations, which induce motor neuron degeneration in spinal muscular atrophy [ 62, 63], and mutations in the RNA-binding proteins TDP-43 and FUS, which induce amyotrophic lateral sclerosis [ 64- 66].
Activated Protein C Resistance is mainly associated to a factor V mutation (RQ506), which induces a deficient inactivation of activated factor V by activated protein C, and is associated to an increased risk of venous and arterial thrombosis in affected individuals, caused by the prolonged activated factor V survival.
Three Arabidopsis LSD1 genes are shown to be involved in flowering regulation, the mutation of which induces H3K4 hyperacetylation and a decrease in H3K27me2 and H3K9me2 on the 5′ region of FLC and produce a later flowering phenotype (Jiang et al. 2007).
In the early 1990s, Raffeld et al. [4] and Banks et al. [5] adopted the term "mantle cell lymphoma" to describe a special subtype of small lymphocytic lymphoma (SLL) with t(11 14 q13 32) mutation, which can induce Cyclin D1 overexpression.
These included 7 frameshift mutations (c.61delG, c.408delA, c.521delA, c.1171_1175delCATTCinsA, c.1405_1407delCTCinsT, c.302_308dupAAATAGG, c.1819_1826dupGTTACAGG), 3 nonsense mutations (p.R69X, p.K88X, p.R127X) one of which (p.K88X) mediated the skipping of exon 2, and a splicing mutation (c.1489+1G>A) which induced the partial skipping of exon 13.
Junctional conductance was reduced by 14% in cochlear cultures harboring the T5M mutation of connexin30, which induces a moderate hearing loss in connexin30T5M/T5M knock in mice, and by 91% in cultures from connexin30−/− mice, which are profoundly deaf.
The most commonly used concentration of EMS in D. melanogaster mutagenesis is 25 mM, which induces a mutation rate of about one lethal hit per X chromosome.
The redistribution of Parkin to mitochondria was inhibited by the disease-related Parkin(C289G) mutation, which could not induce mitophagy, in agreement with other studies (19, 22).
