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- Dombovari, Balazs, et al.
(författare)
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In vivo validation of the electronic depth control probes
- 2014
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Ingår i: Biomedizinische Technik (Berlin. Zeitschrift). - : Walter de Gruyter GmbH. - 1862-278X .- 0013-5585. ; 59:4, s. 283-289
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Tidskriftsartikel (refereegranskat)abstract
- In this article, we evaluated the electrophysiological performance of a novel, high-complexity silicon probe array. This brain-implantable probe implements a dynamically reconfigurable voltage-recording device, coordinating large numbers of electronically switchable recording sites, referred to as electronic depth control (EDC). Our results show the potential of the EDC devices to record good-quality local field potentials, and single- and multiple-unit activities in cortical regions during pharmacologically induced cortical slow wave activity in an animal model.
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| 4. |
- Karsten, Stanislav L.
(författare)
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Molecular investigation of mucopolysaccharidosis type II (Hunter syndrome) in man
- 2000
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Mucopolysaccharidosis type II or Hunter syndrome is a rare lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS). The disorder is inherited in an X-linked recessive fashion and has a broad spectrum of clinical phenotypes ranging from severe to mild. Different mutations in the IDS locus affecting enzyme function or stability explain a wide spectrum of clinical phenotypes.The aim of the work described in this thesis is to identify and analyse the mutations in the human iduronate-2-sulfatase (IDS) gene resulting in the development of Hunter syndrome. The DNA samples from 63 unrelated patients were analysed by Southern blot analysis, PCR, RT-PCR, SSCP and DNA sequencing. Among 55 mutant alleles, there were 33 missense/nonsense mutations, 6 mutations affecting splicing, and 12 major structural alterations resulting in various rearrangements. Of the 45 different mutations 26 were novel and unique. The study of large group of patients originated from Russia anddiagnosed by the same clinician allowed us to investigate the correlation between genotype and phenotype in the Hunter syndrome.The structural rearrangements and deletions of the entire IDS gene are observed in about 20% of the patients, suggesting the presence of recombinational "hotspots" in the locus. We have isolated and characterised the recombinational junctions from 9 unrelated MPSII patients with structural rearrangements in the IDS gene. It was shown that the IDS gene is frequently involved in the homologous recombination with the IDS-2 pseudogene resulting in inversions. Moreover, the presence of homologous regions in the IDS locuspossibly promotes nonhomologous recombination resulting in various intragenic deletions and complex rearrangements of the IDS gene. The models explaining recombinational events are proposed.The data reported in this thesis contributes to our understanding of the nature of mutation events and provides valuable insights into the mechanisms of DNA recombination. The knowledge of the IDS gene defects permits direct detection of carriers of that mutation, allows to make the prognostic predictions about clinical severity and gives us information about the functionally important parts of the iduronate-2-sulfatase.
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| 5. |
- Karsten, Stanislav L., et al.
(författare)
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Two distinct deletions in the IDS gene and the gene W : a novel type of mutation associated with the Hunter syndrome
- 1997
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Ingår i: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 43:2, s. 123-129
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Tidskriftsartikel (refereegranskat)abstract
- A novel mutation has been identified in a patient with the Hunter syndrome (mucopolysaccharidosis type II), in whom the disorder is associated with two distinct deletions separated by 30 kb. The deletions were characterized by Southern blot and PCR analyses, and the nucleotide sequences at both junctions were determined. The first deletion, corresponding to a loss of 3152 bp of DNA, included exons 5 and 6 of the iduronate-2-sulfatase (IDS) gene. The second deletion was 3603 bp long and included exons 3 and 4 of geneW, which is located in the DXS466 locus telomeric of theIDSgene. Both deletions are the result of nonhomologous (illegitimate) recombination events between short direct repeats at the deletion breakpoints. An interesting finding was the presence of the heptamer sequence 5′-TACTCTA-3′ present at both deletion junctions, suggesting that this motif might be a hot spot for recombination. We propose that the double deletion is the result of homology-associated nonhomologous recombinations caused by the presence of large duplicated regions in Xq27.3–q28.
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| 8. |
- Lagerstedt, Kristina, et al.
(författare)
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Double-strand breaks may initiate the inversion mutation causing the Hunter syndrome
- 1997
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 6:4, s. 627-633
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Tidskriftsartikel (refereegranskat)abstract
- We have previously shown that patients with the Hunter syndrome frequently have suffered from a recombination event between the IDS gene and its putative pseudogene, IDS-2, resulting in an inversion of the intervening DNA. The inversion, which might be the consequence of an intrachromosomal mispairing, is caused by homologous recombination between sequences located in intron 7 of the IDS gene and sequences located distal of exon 3 in IDS-2. In order to gain insight into the mechanisms causing the inversion, we have isolated both inversion junctions in six unrelated patients. DNA sequence analysis of the junctions showed that all recombinations have taken place within a 1 kb region where the sequence identity is >98%. An interesting finding was the identification of regions with alternating IDS gene and IDS-2 sequences present at one inversion junction, suggesting that the recombination event has been initiated by a double-strand break in intron 7 of the IDS gene. The results from this study suggest that homologous recombination in man could be explained by mechanisms similar to those described for Saccharomyces cerevisiae. The results also have practical implications for diagnosis of patients with the Hunter syndrome.
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