| 1. |
- Chang, Bo, et al.
(author)
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A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
- 2009
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In: Proceedings of the National Academy of Sciences. - : Proceedings of the National Academy of Sciences. - 1091-6490 .- 0027-8424. ; 106:46, s. 19581-19586
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Journal article (peer-reviewed)abstract
- Retinal cone photoreceptors mediate fine visual acuity, daylight vision, and color vision. Congenital hereditary conditions in which there is a lack of cone function in humans cause achromatopsia, an autosomal recessive trait, characterized by low vision, photophobia, and lack of color discrimination. Herein we report the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia. Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia.
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| 2. |
- Chen, Liang, et al.
(author)
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Plasma metallothionein antibody and cadmium-induced renal dysfunction in an occupational population in China.
- 2006
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In: Toxicological sciences : an official journal of the Society of Toxicology. - : Oxford University Press (OUP). - 1096-6080. ; 91:1, s. 104-12
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Journal article (peer-reviewed)abstract
- It has been reported that anti-metallothionein (a metallothionein antibody) is present in the circulation of healthy subjects and in patients suffering from atopic dermatitis. The aim of this study was to investigate whether cadmium-induced renal dysfunction is related to the presence of the plasma metallothionein antibody (MT-Ab) in workers exposed to cadmium (Cd) occupationally. Plasma metallothionein antibody was determined by enzyme linked immunosorbent assay (ELISA) techniques, and both exposure assessment and risk assessment were conducted in cadmium-exposed workers in China. We demonstrate that there is a significantly increased prevalence of renal dysfunction with respect to the level of urinary cadmium in a dose-dependent manner. We found no significant correlations between the levels of MT-Ab and the external or internal exposure doses of cadmium (p > 0.05), but the levels of MT-Ab did correlate positively with two biomarkers of renal dysfunction-urinary beta2-microglobulin (UB2M; r = 0.218, p < 0.05) and N-acetyl-beta-D-glucosaminidase (UNAG; r = 0.302, p < 0.001)-in the cadmium-exposed workers. Workers who have high levels of MT-Ab display cadmium-induced tubular nephrotoxicity more frequently than those possessing low levels of MT-Ab; odds ratio (OR) 4.2; 95% confidence intervals 1.2-14.5 (p < 0.05). This study suggests that subjects that have higher MT-Ab levels more readily develop cadmium-induced renal dysfunction. Thus, the levels of plasma MT-Ab can be used as a biomarker of susceptibility to renal dysfunction in occupational cadmium exposure.
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| 3. |
- Friedman, James S., et al.
(author)
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Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
- 2006
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In: American Journal of Human Genetics. - 0002-9297. ; 79:6, s. 1059-1070
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Journal article (peer-reviewed)abstract
- The rd3 mouse is one of the oldest identified models of early-onset retinal degeneration. Using the positional candidate approach, we have identified a C -> T substitution in a novel gene, Rd3, that encodes an evolutionarily conserved protein of 195 amino acids. The rd3 mutation results in a predicted stop codon after residue 106. This change is observed in four rd3 lines derived from the original collected mice but not in the nine wild-type mouse strains that were examined. Rd3 is preferentially expressed in the retina and exhibits increasing expression through early postnatal development. In transiently transfected COS-1 cells, the RD3-fusion protein shows subnuclear localization adjacent to promyelocytic leukemia-gene-product bodies. The truncated mutant RD3 protein is detectable in COS-1 cells but appears to get degraded rapidly. To explore potential association of the human RD3 gene at chromosome 1q32 with retinopathies, we performed a mutation screen of 881 probands from North America, India, and Europe. In addition to several alterations of uncertain significance, we identified a homozygous alteration in the invariant G nucleotide of the RD3 exon 2 donor splice site in two siblings with Leber congenital amaurosis. This mutation is predicted to result in premature truncation of the RD3 protein, segregates with the disease, and is not detected in 121 ethnically matched control individuals. We suggest that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing.
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| 4. |
- Hoffmann, Markus, et al.
(author)
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Enhanced pi conjugation around a porphyrin[6] nanoring
- 2008
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In: Angewandte Chemie - International Edition. - : Wiley. - 1433-7851 .- 1521-3773. ; 47:27, s. 4993-4996
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Journal article (peer-reviewed)abstract
- (Figure Presented) Strong cycle: The cyclic hexamer-template complex 3 obtained through template-directed trimerization of a porphyrin dimer 2, using a hexapyridyl template 1, is extremely stable (K f =7×10 38 m -1 ), but the free macrocycle 4 can be liberated using amine ligands. Spectroscopic data and DFT calculations show that the cyclic hexamer is more conjugated than its linear analogue. © 2008 Wiley-VCH Verlag GmbH & Co. KGaA.
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| 5. |
- Jo, Ji Song, et al.
(author)
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Anti-wrinkle activity of beta-carotene extracted & purified from recombinant Escherichia coli
- 2008
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In: KSBB Journal. - 1225-7117 .- 2288-8268. ; 23:6, s. 513-518
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Journal article (peer-reviewed)abstract
- This paper described the extraction/purification of β-carotene from recombinant E.coli and evaluation of anti-wrinkle activity of purified β-carotene. No significant differences in extraction yields were observed when hexane or isobutyl acetate was used. However, extraction from wet-cell cake resulted in 2-fold higher amount of β-carotene than that from dry cells. Disruption of 5 g-wet cells by ultrasonic homogenizer, acetone dehydration, extraction with isobutyl acetate resulted in 36 mg of β-carotene corresponding to 61.2% of recovery. The formation and separation of ββ-carotene crystal improved the purity. 633 mg of β-carotene crystal with 93% purity was obtained from 223 g/L of wet-cell cake harvested from 2.5-L fed-batch culture broth. The cultures of normal human primary fibroblast were performed to investigate the effect of β-carotene on cytotoxicity as MTT assay and anti-wrinkle activity as collagen synthesis assays. 1.7μM of β-carotene was found to be optimal concentration at which 1.4-fold higher amount of collagen was synthesized than that in absence of β-carotene. This indicates that highly purified β-carotene can be obtained from recombinant E.coli by applying simple method with less toxic solvent and can be used in functional cosmetics as anti-wrinkle agent.
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| 6. |
- Stensgaard, Bo Møller, et al.
(author)
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Assessment of mineral potential using cross-validation techniques and statistical analysis : A case study from the paleoproterozoic of West Greenland
- 2006
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In: Economic geology and the bulletin of the Society of Economic Geologists. - : Society of Economic Geologists. - 0361-0128 .- 1554-0774. ; 101:7, s. 1397-1413
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Journal article (peer-reviewed)abstract
- An ideal mineral exploration program characterizes all types of data by describing its relationship to an integrated mineral deposit and exploration model. The model is used to interpret the mineralization and plays a role in the decision making for exploration activities and investments. Successful application of the model depends on validated techniques that quantify the signatures of geologic features, combine data, and lead to parameters that can be expressed in economic terms. A step-by-step procedure for assessment of mineral potential is proposed here based on probabilistic models, on empirical analysis, and on location and quantitative characterization of known mineral occurrences. Mineral potential maps are constructed as a part of the procedure. The reliability of the results is evaluated mathematically by cross validations and prediction rate curves. Estimations of the probability for new discoveries are made and the results are discussed in economic terms. To illustrate the procedure we apply the method to exploration f or volcanogenic massive sulfide deposits in a poorly to moderately explored area of about 25,800 km2 within the Paleoproterozoic Nagssugtoqidian orogen of West Greenland. The input data for the analysis include 67 noneconomic occurrences and 15 different types of geophysical and geochemical data. Based on statistical characterizations, 36 of the occurrences were divided into three groups (the Naternaq, Arfersiorfik, and Ataneq groups). The remaining 31 occurrences did not have consistent characteristics in terms of the 15 geophysical and geochemical parameters, and these were excluded from further statistical study. A consistent set of geophysical and geochemical characteristics was established for each of the three groups and used to construct mineral potential maps of the exploration area. Each potential map was divided into 200 equal-size classes of 129 km2 each (0.5% of the entire study area). The probability that the most favorable 129 km2 will host an occurrence of the type assigned to a particular group is estimated as 71, 32, and 100 percent for the three groups (Naternaq, Arfersiorfik, and Ataneq). The probabilities of new discoveries within a specific minimum prospective area targeted for exploration are also discussed. The probabilities of new discoveries within 1 km2 of the 129 km2 most favorable area were estimated as 1.0, 0.3, and 23 percent, respectively for the three types of occurrences
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| 7. |
- Sun, Jie, et al.
(author)
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Scanning electron microscopy observation of in-device InAs/AlAs quantum dots by selective etching of capping layers
- 2007
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In: Modern Physics Letters B. - 0217-9849. ; 21:14, s. 859-866
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Journal article (peer-reviewed)abstract
- Self-assembled InAs/AlAs quantum dots embedded in a resonant tunneling diode device structure are grown by molecular beam epitaxy. Through the selective etching in a C6H8O7 center dot H2O-K3C6H5O7 center dot H2O-H2O2 buffer solution, 310 nm GaAs capping layers are removed and the InAs/AlAs quantum dots are observed by field-emission scanning electron microscopy. It is shown that as-fabricated quantum dots have a diameter of several tens of nanometers and a density of 10(10) cm(-2) order. The images taken by this means are comparable or slightly better than those of transmission electron microscopy. The undercut of the InAs/AlAs layer near the edges of mesas is detected and that verifies the reliability of the quantum dot images. The inhomogeneous oxidation of the upper AlAs barrier in H2O2 is also observed. By comparing the morphologies of the mesa edge adjacent regions and the rest areas of the sample, it is concluded that the physicochemical reaction introduced in this letter is diffusion limited.
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