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- Hillier, Ladeana W, et al.
(författare)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Tidskriftsartikel (refereegranskat)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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| 2. |
- Astuto, Lisa M., et al.
(författare)
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Genetic heterogeneity of Usher syndrome : analysis of 151 families with Usher type 1
- 2000
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 67:6, s. 1569-1574
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.
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| 4. |
- Evekull, D., et al.
(författare)
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Polymer encapsulated miniature Nd:YAG lasers
- 2003
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Ingår i: Electronics Letters. - : Institution of Engineering and Technology (IET). - 0013-5194 .- 1350-911X. ; 39:20, s. 1446-1448
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Tidskriftsartikel (refereegranskat)abstract
- A continuation of the previously introduced microstructured silicon carrier concept for diode-pumped solid-state lasers is presented, using novel heat-conducting polymers as a carrier. The most prominent features of the silicon carrier concept are maintained, adding to the mass production possibilities of the inexpensive polymers. The first experiments, using a continuous wave Nd:YAG microchip laser, have given an output power of 2 W at 1064 nm, showing the potential of this new approach.
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| 8. |
- Lewellen, JW, et al.
(författare)
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Present status and recent results from the APS SASE FEL
- 2002
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Ingår i: Nuclear Instruments & Methods in Physics Research. Section A: Accelerators, Spectrometers, Detectors, and Associated Equipment. - 0167-5087. ; 483:1-2, s. 40-45
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Tidskriftsartikel (refereegranskat)abstract
- The Low-Energy Undulator Test Line (LEUTL) at the Advanced Photon Source, Argonne National Laboratory, is intended to demonstrate the basic operation of a SASE-based free-electron laser. Goals include comparison of experimental results With theoretical predictions and scaling laws, identification of problems relevant to fourth-generation light source construction and operation and the means of addressing them, the development of operational and diagnostic techniques to optimize SASE FEL performance and increase repeatability from run to run. and performance of initial pioneering experiments capable of exploiting the unique properties of the laser. The basic layout and operational philosophy of the LEUTL experiment is presented. A summary of past results, including saturation, is reviewed, and a description of recent results is presented. We conclude with future plans, which include pressing to shorter wavelengths and incorporating user experiments into the LEUTL experimental program.
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| 9. |
- Rodrigo Blomqvist, Sandra, 1974, et al.
(författare)
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Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1.
- 2004
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Ingår i: The Journal of clinical investigation. - 0021-9738. ; 113:11, s. 1560-70
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Tidskriftsartikel (refereegranskat)abstract
- While macro- and microscopic kidney development appear to proceed normally in mice that lack Foxi1, electron microscopy reveals an altered ultrastructure of cells lining the distal nephron. Northern blot analyses, cRNA in situ hybridizations, and immunohistochemistry demonstrate a complete loss of expression of several anion transporters, proton pumps, and anion exchange proteins expressed by intercalated cells of the collecting ducts, many of which have been implicated in hereditary forms of distal renal tubular acidosis (dRTA). In Foxi1-null mutants the normal epithelium with its two major cell types - principal and intercalated cells - has been replaced by a single cell type positive for both principal and intercalated cell markers. To test the functional consequences of these alterations, Foxi1(-/-) mice were compared with WT littermates in their response to an acidic load. This revealed an inability to acidify the urine as well as a lowered systemic buffer capacity and overt acidosis in null mutants. Thus, Foxi1(-/-) mice seem to develop dRTA due to altered cellular composition of the distal nephron epithelium, thereby denying this epithelium the proper gene expression pattern needed for maintaining adequate acid-base homeostasis.
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