Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. ...An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). We report here two siblings with infantile myofibromatosis and with a PDGFRB mutation identified by exome sequence analysis. However, the unaffected mother also had the same PDGFRB mutation. We showed that both children had also inherited from their healthy father a heterozygous mutation in the gene for receptor protein tyrosine phosphatase gamma (PTPRG), an enzyme known to dephosphorylate PDGFRB. We suggest that in this family, the additional mutation in PTPRG may explain the full phenotypic penetrance in the siblings affected, in comparison with the unaffected mother.
Single and multiple T-DNA knockouts of genes encoding arogenate dehydratases (ADTs) in Arabidopsis were obtained in homozygous form. These were analyzed for potential differences in lignin contents ...and compositions, as well as for distinct phenotypes over growth and development. Of these different lines, distinct reductions in lignin contents were obtained, with those having different G:S ratios depending upon the combination of ADT genes being knocked out. Results from pyrolysis GC/MS analyses indicated that differential carbon flux occurred into the vascular bundles (vb) and interfascicular fibers (if). These results provide additional new insight into factors controlling lignin heterogeneity and configuration.
The aim of this study was to identify the effects of surgically removing subcutaneous fat on the metabolic profile and insulin sensitivity in obese women after large-volume liposuction treatment. An ...open clinical trial with a non-intervention parallel group was carried out on 12 young, obese women. After randomization, six volunteers were selected to the surgical intervention consisting of large-volume liposuction; the other six women were considered as the non-intervention group. Metabolic profiles and insulin tolerance tests to assess insulin sensitivity were performed on all volunteers before intervention or non-intervention and 21 - 28 days afterwards. There were a significant decrease in glucose (4.9 +/- 0.4 vs. 4.6 +/- 0.2 mmol/l, p < 0.05) and uric acid (250.8 +/- 56.2 vs. 224.0 +/- 53.4 micromol/l, p < 0.05) levels after liposuction; insulin sensitivity improved after the surgical intervention (4.3 +/- 0.9 vs. 5.3 +/- 0.8 %/min, p = 0.046). In conclusion, surgical removal of subcutaneous fat by large-volume liposuction led to an improvement in insulin sensitivity and a decrease in glucose and uric acid concentrations.
Massive mortality in kelp beds of the Pacific coasts of North and South America was caused by the rise in surface seawater temperature during the El Nino Southern Oscillation (ENSO) event of 1982/83, ...the strongest in the four and half previous centuries. In northern Chile a stretch of 600 km of coastline showed massive mortality of the intertidal kelp species Lessonia nigrescens Bory, of which only a few individuals managed to survive. Kelps and their associated biodiversity recovered but kelp beds re-colonization in general was variable in time and space seemingly very slow along northern Chilean coasts. Here we show, effectively, that northward re-colonization advanced less than 60 km in 20 years. Conversely, kelp beds of the Northern Hemisphere recovered 300 km in only six months after the same ENSO event. Genetic diversity in the two most affected populations of L. nigrescens shows half of the heterozygosity and polymorphism with respect to that observed in six non affected populations. In addition, geographically separated populations seem highly isolated as evidenced by high and significant fixation indices (all F sub(ST) values over 0.4).
The response of the actin cytoskeleton to nodulation (Nod) factors secreted by Rhizobium etli has been studied in living root hairs of bean (Phaseolus vulgaris) that were microinjected with ...fluorescein isothiocyanate-phalloidin. In untreated control cells or cells treated with the inactive chitin oligomer, the actin cytoskeleton was organized into long bundles that were oriented parallel to the long axis of the root hair and extended into the apical zone. Upon exposure to R. etli Nod factors, the filamentous actin became fragmented, as indicated by the appearance of prominent masses of diffuse fluorescence in the apical region of the root hair. These changes in the actin cytoskeleton were rapid, observed as soon as 5 to 10 min after application of the Nod factors. It was interesting that the filamentous actin partially recovered in the continued presence of the Nod factor: by 1 h, long bundles had reformed. However, these cells still contained a significant amount of diffuse fluorescence in the apical zone and in the nuclear area, presumably indicating the presence of short actin filaments. These results indicate that Nod factors alter the organization of actin microfilaments in root hair cells, and this could be a prelude for the formation of infection threads.
Recent work on the galactose-utilization pathway of yeast has shown how transcriptome and proteome data can be combined to deduce a network of hundreds of genes involved in protein–protein and ...protein–DNA interactions. Such a network leads to a new picture about how the pathway is regulated that is clearer and more complete than what was previously known.
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