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| 2. |
- Horvath, Rita, et al.
(author)
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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- 2009
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In: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 132:Pt 11, s. 3165-74
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Journal article (peer-reviewed)abstract
- Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.
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| 3. |
- Mousavi, S. A., et al.
(author)
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Three-Dimensional Finite Element Analysis of GaPO4/Pt Surface Acoustic Wave Resonator Based on Cell Model
- 2009
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In: International Review on Modeling and Simulations. - Italy : Praise Worthy Prize. - 1974-9821 .- 1974-983X. ; 2:4, s. 426-432
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Journal article (peer-reviewed)abstract
- This paper present a three-dimensional finite element method for the one-port surface acoustic wave resonator base on GaPO4 with 5° cut for high frequency application. Interdigital transducer is assumed a thin film platinum with chromium as an under-layer material. The simulated frequency response and wave propagation are obtained under base cell model at 433.92 MHz centre frequency under ISM band. Frequency responses versus impedance are compared and verify with the known result in literature. The results show that the total displacements are vanished at a distance of about 2 to 3 wavelength from the surface. As expected, the X and Y displacement are 90°out-of-phase with each other. It is observed that the mass loading effect is suitable for prediction of resonant frequency. It is Q found that the factor value is larger than 1000 and the mode shapes for resonant and anti-resonant condition are different at two edges of stop-band.
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| 4. |
- Alimadadi, Hossein, 1983, et al.
(author)
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Corrosion properties of electrodeposited nanocrystalline and amorphous patterned Ni-W alloy
- 2009
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In: MATERIALS & DESIGN. - : Elsevier BV. - 0261-3069 .- 0264-1275 .- 1873-4197. ; 30:4, s. 1356-1361
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Journal article (peer-reviewed)abstract
- Nickel-tungsten with satisfactory corrosion properties is a promising alloy to replace hard chromium. Relatively high adhesion between copper substrate and electrodeposited Ni-W alloy results in patterned morphology due to crack formation. In this work, corrosion resistance of patterned Ni-W alloys comprising 0-26 at.%.W were studied by potentiodynamic polarization and EIS in a medium containing Cl-. It is shown that corrosion resistance of single phase Ni-W is superior to amorphous and dual phase coated layers. It is also found that crack density is the dominant affecting factor on corrosion resistance of amorphous Ni-W alloys.
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| 5. |
- Kabosova, Andrea, et al.
(author)
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Compositional differences between infant and adult human corneal basement membranes
- 2007
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In: Investigative Ophthalmology & Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 1552-5783. ; 48:11, s. 4989-4999
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Journal article (peer-reviewed)abstract
- PURPOSE. Adult human corneal epithelial basement membrane ( EBM) and Descemet's membrane ( DM) components exhibit heterogeneous distribution. The purpose of the study was to identify changes of these components during postnatal corneal development. METHODS. Thirty healthy adult corneas and 10 corneas from 12-day- to 3-year-old children were studied by immunofluorescence with antibodies against BM components. RESULTS. Type IV collagen composition of infant corneal central EBM over Bowman's layer changed from alpha 1-alpha 2 to alpha 3-alpha 4 chains after 3 years of life; in the adult, alpha 1-alpha 2 chains were retained only in the limbal BM. Laminin alpha 2 and beta 2 chains were present in the adult limbal BM where epithelial stem cells are located. By 3 years of age, beta 2 chain appeared in the limbal BM. In all corneas, limbal BM contained laminin gamma 3 chain. In the infant DM, type IV collagen alpha 1-alpha 6 chains, perlecan, nidogen-1, nidogen-2, and netrin-4 were found on both faces, but they remained only on the endothelial face of the adult DM. The stromal face of the infant but not the adult DM was positive for tenascin-C, fibrillin-1, SPARC, and laminin-332. Type VIII collagen shifted from the endothelial face of infant DM to its stromal face in the adult. Matrilin-4 largely disappeared after the age of 3 years. CONCLUSIONS. The distribution of laminin gamma 3 chain, nidogen-2, netrin-4, matrilin-2, and matrilin-4 is described in the cornea for the first time. The observed differences between adult and infant corneal BMs may relate to changes in their mechanical strength, corneal cell adhesion and differentiation in the process of postnatal corneal maturation.
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| 6. |
- Van Raamsdonk, Jeremy M., et al.
(author)
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Testicular degeneration in Huntington disease
- 2007
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In: Neurobiology of Disease. - : Elsevier BV. - 0969-9961. ; 26:3, s. 512-520
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Journal article (peer-reviewed)abstract
- Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic-pituitary-gonadal (HPG) axis in HD patients. Here, we show that HD patients have specific testicular pathology with reduced numbers of germ cells and abnormal seminiferous tubule morphology. In the YAC128 mouse model, testicular degeneration develops prior to 12 months of age, but at 12 months, there is no evidence for decreased testosterone levels or loss of GnRH neurons in the hypothalamus. This suggests that testicular pathology results from a direct toxic effect of mutant huntingtin in the testis and is supported by the fact that huntingtin is highly expressed in the affected cell populations in the testis. Understanding the pathogenesis of HD in the testis may reveal common critical pathways which lead to degeneration in both the brain and testis.
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| 7. |
- Velazquez-Fernandez, D., et al.
(author)
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Differential RNA expression profile by cDNA microarray in sporadic primary hyperparathyroidism (pHPT) : Primary parathyroid hyperplasia versus adenoma
- 2006
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In: World Journal of Surgery. - : Springer Science and Business Media LLC. - 0364-2313 .- 1432-2323. ; 30:5, s. 705-713
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Journal article (peer-reviewed)abstract
- Background:Differential diagnosis between adenoma and hyperplasia in primary hyperparathyroidism (pHPT) remains a dilemma. The aim of this study was to assess differences in transcriptional genomic expression profiles between sporadic (nonfamilial) parathyroid hyperplasia (SPH), adenoma, and normal tissue. Methods: Parathyroid tissue from 12 patients with parathyroid adenoma, 3 with SPH, and 2 with normal glands was selected for analysis. Histopathology was reviewed in all cases, and all patients with adenomas presented normocalcemia for a minimum of 6 months after one gland resection. Hybridizations were performed in a microarray containing 19,968 human cDNA clones including contiguous replicates. Direct comparisons were performed with reverse labeling for every different pooled sample entity. Expression levels were analyzed using the SAM, SMA, LIMMA, Cluster, and PAM packages in the R environment for statistical computing. Results: There were significant statistical differences between SPH and adenomas. In the direct comparison, a total of 200 genes showed differential expression (P < 0.03): 61 genes were upregulated (> 1.65-fold increase) and 139 were downregulated (> 1.58-fold decrease) with a B value > 4.68 (99.08% probability of real differential expression). When SPH was compared to normal parathyroid tissue, 50 genes were differentially expressed: 42 were upregulated (> 1.89) and 8 were downregulated (> 1.7) with a B > 4.26 (98.6% probability of real differential expression). At least 17 genes were differentially expressed and able to discriminate SPH from adenoma or normal tissue. Upregulated genes were related to apoptosis inhibition, cell proliferation, transcriptional activity and cell adhesion, among other activities. Downregulated genes were mainly related to ion channel activity, lipopolysaccharides, prostaglandin-d synthase, and integral membrane proteins. Conclusions: Our data suggest that SPH and adenoma have a singular molecular signature that, theoretically, could be used for the differential diagnosis of these entities and normal parathyroid tissue.
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| 8. |
- Aceto, Luca, et al.
(author)
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Algebraic properties for free!
- 2009
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In: Bulletin of the European Association for Theoretical Computer Science. - : European Association for Theoretical Computer Science. - 0252-9742. ; 99, s. 81-103
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Journal article (peer-reviewed)abstract
- Algebraic properties specify some natural properties of programming and specification constructs. This paper provides an overview of techniques to guarantee or generate algebraic properties of language constructs by investigating the syntactic shape of the deduction rules defining their operational semantics.
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| 9. |
- Agustin, Sanchez-Arcilla, et al.
(author)
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Introduction
- 2008
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In: Journal of Hydraulic Research. - 0022-1686. ; 46:2, s. 179-182
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Journal article (other academic/artistic)
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| 10. |
- Babonas, G. J., et al.
(author)
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Optical properties of Fe-doped silica films on Si
- 2006
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In: Applied Surface Science. - : Elsevier BV. - 0169-4332 .- 1873-5584. ; 252:15, s. 5391-5394
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Journal article (peer-reviewed)abstract
- Optical properties of Fe-doped silica films on Si were investigated by ellipsometric technique in the region 1-5 eV. Samples were produced by sol-gel method. Precursors were prepared by mixing tetraethoxysilane (TEOS) solution in ethanol and water with aqueous solution of Fe-chloride or Fe-acetate. The coating solution was deposited on Si substrates by spin on technique. The size of Fe-containing nanometric-sized particles depended on technology and varied from 20 to 100 nm. Optical response of complex hybrid samples SiO2:Fe/Si was interpreted in a multi-layer model. In the inverse problem, the Maxwell equations were solved by transfer matrix technique. Dielectric function of Fe-doped silica layers was calculated in the model of effective media. Analysis of optical data has shown that various Fe-oxides formed. Experimental data for films obtained from precursors with Fe-acetate and annealed in hydrogen were well described by the model calculations taking into account a small contribution 1-5% of metal Fe imbedded in silica. The Fe/Fe-O contribution to optical response increased for samples grown from FeCl3-precursor. Ellipsometric data for Fe-doped silica films on Si were interpreted taking into account the structural AFM studies as well as the results of magnetic measurements.
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