| 1. |
- Sebat, J, et al.
(författare)
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Large-scale copy number polymorphism in the human genome
- 2004
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 305:5683, s. 525-528
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Tidskriftsartikel (refereegranskat)abstract
- The extent to which large duplications and deletions contribute to human genetic variation and diversity is unknown. Here, we show that large-scale copy number polymorphisms (CNPs) (about 100 kilobases and greater) contribute substantially to genomic variation between normal humans. Representational oligonucleotide microarray analysis of 20 individuals revealed a total of 221 copy number differences representing 76 unique CNPs. On average, individuals differed by 11 CNPs, and the average length of a CNP interval was 465 kilobases. We observed copy number variation of 70 different genes within CNP intervals, including genes involved in neurological function, regulation of cell growth, regulation of metabolism, and several genes known to be associated with disease.
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| 2. |
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| 3. |
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| 4. |
- Juhasz, P., et al.
(författare)
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ESI and MALDI LC/MS-MS approaches for large scale protein, identification and quantification : Are they equivalent?
- 2002
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Ingår i: ; , s. 55-56
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Konferensbidrag (refereegranskat)abstract
- An approach for large scale protein identification and quantification was described. The peptide mixtures from the strong cation exchange (SCX) fractionated protein digests were separated and analyzed by HPLC MS/MS. The human fibrobalst nuclei were purified from stimulated and non-stimulated cells. The quantification results with MALDI and ESI LC/MS were shown to be identical within experimental error.
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| 5. |
- Ziegler, K., et al.
(författare)
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The synthesis of matrices of embedded semiconducting nanowires
- 2004
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Ingår i: Faraday discussions. - : Royal Society of Chemistry (RSC). - 1359-6640 .- 1364-5498. ; 125, s. 311-326
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Tidskriftsartikel (refereegranskat)abstract
- In this work we report how single crystal nanowires can be assembled into regular arrays using mesoporous thin films to define the architecture. Mesoporous thin films were prepared by a sol-gel method. These provide films of very regular structure and dimensions. The films produced in this way have almost single crystal like structures and can also exhibit strong epitaxy to the underlying silicon substrate. The films are subjected to a supercritical fluid (SCF) environment in which a precursor is decomposed to yield nanowires of metals, semiconductors or oxides. Using these SCF conditions, pore filling is complete and the products are nanowires which are single crystals and structurally aligned in one direction. The growth mechanism of the nanowires is described and size effects discussed.
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| 9. |
- Mootha, VK, et al.
(författare)
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PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes.
- 2003
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 34:3, s. 267-273
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Tidskriftsartikel (refereegranskat)abstract
- DNA microarrays can be used to identify gene expression changes characteristic of human disease. This is challenging, however, when relevant differences are subtle at the level of individual genes. We introduce an analytical strategy, Gene Set Enrichment Analysis, designed to detect modest but coordinate changes in the expression of groups of functionally related genes. Using this approach, we identify a set of genes involved in oxidative phosphorylation whose expression is coordinately decreased in human diabetic muscle. Expression of these genes is high at sites of insulin-mediated glucose disposal, activated by PGC-1alpha and correlated with total-body aerobic capacity. Our results associate this gene set with clinically important variation in human metabolism and illustrate the value of pathway relationships in the analysis of genomic profiling experiments.
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