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In the current paper, a heart tissue specific transgenic mice expressing LMNA E82K was generated and the mechanism causing dilated cardiomyopathy for this mutation were investigated in the transgenic mice.
The biological consequences of this germline mutation were investigated by means of transfection studies of the mutant PTEN molecule compared to wild-type PTEN.
Fourteen patients with PED and epilepsy [8 F, 6 M; median age: 25 years (range: 13 52)] carrying a GLUT1 mutation were investigated using 2-[F]Fluoro-2-deoxy d-glucose (FDG) PET.
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The MME mutation was investigated with pyrosequencing in patients, of whom all were wild type.
For the latter case, the modes change in order of appearance (modes swapping) and in shape (modes mutation) is investigated.
Hybridization between probe and its target and discrimination of single point mutation was investigated by monitoring guanine oxidation signals observed at + 1.0 V with Differential Pulse Voltammetry (DPV) by using synthetic oligonucleotides and Polymerase Chain Reaction (PCR) amplicons.
The capacity of a human cell line to secrete recombinant factor VIII with a F309S point mutation was investigated, as was the effect of the addition of chemical chaperones (betaine and sodium-4-phenylbutyrate) on the secretion of factor VIII.
KRAS mutation was investigated in 205 patients and mutations were noted in 88 of those patients (42.9%).
In addition, the prevalence of the mutation was investigated in 453 and 191 healthy individuals from Germany and the Netherlands, respectively.
The mutation was investigated in all available family members and showed full co-segregation with the deafness.
The toxicity of sodium benzoate involved in type 2 diabetes on EC-SOD mutation was investigated in this study.
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