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The mice were then injected with ExiTron MyoC 8000, at a dose of 1050 mg I/kg body weight (i.e., 125 [micro]L per 25 g mouse) followed by a saline flush (25 [micro]L).
For determination of the minimum dose of ExiTron MyoC 8000 that enables effective imaging of the myocardium, healthy mice (n = 5) were each administered with a different dose of the contrast agent (210,420, 630, 840, and 1050 mg I/kg body weight, corresponding to 25, 50, 75, 100, and 125 [micro]L per 25 g mouse, resp.).
Primers flanking the candidate loci were designed on the basis of genomic sequences of human genome (hg19/build37.1) and synthesized by Invitrogen (USA): MYOC -F, 5'-GGGAGACAAACATCCGTAAGC -3'; MYOC -R, 5'-GTCTACGCCCTCAGACTACAA -3'; beta-1,4-galactosyltransferase 3 ( B4GALT3 )-F, 5'- AGAGAAGGCTAGGTAAGGATCC-3'; B4GALT3 -R, 5'-AAAGTGGAAGAGCAGTGC-3'.
In sequencing analysis, a heterozygous missense mutation, c.1456C<T (p.L486F), was found located at nucleotide 1456 in econ 3 of MYOC gene [Figure 2].
Ancak mutasyon bilindiginde dahi, ozellikle MYOC gen mutasyonlarinda izlendigi gibi, degisken ekspresivite ve penetrans eksikligi prenatal tanidaki en buyuk kisitliliktir.
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.
Since no pathogenic mutation was present in the population, it was suggested that the present data showed non-involvement of MYOC mutations in the patients.
Very little to no myocilin was secreted in vitro from cells expressing five different mutant forms of MYOC, and no mutant myocilin was detected in the aqueous humor of patients with the most common mutation, Gln368Stop (Jacobson et al.
Craig et al., "Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension," Investigative Ophthalmology & Visual Science, vol.
The MYOC mutation, P370L, is associated with features of mitochondrial dysfunction in trabecular meshwork cells and can cause impaired function and even cell death.
Each cell line from the IGR-N-91 experimental model (stage 4 disease, BM, and Myoc) was analyzed with 8 arrays: 2 replicates and 2 dye-swaps for each of the 2 cell lines, BM and Myoc.
Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.