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- Maugeri, A., et al.
(författare)
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The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
- 1999
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Ingår i: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 64:4, s. 1024-35
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Tidskriftsartikel (refereegranskat)abstract
- In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15 (37.5%) patients, shows linkage disequilibrium with a rare polymorphism (2828G-->A) in exon 19, suggesting a founder effect. The guanine at position 2588 is part of the 3' splice site of exon 17. Analysis of the lymphoblastoid cell mRNA of two STGD patients with the 2588G-->C mutation shows that the resulting mutant ABCR proteins either lack Gly863 or contain the missense mutation Gly863Ala. We hypothesize that the 2588G-->C alteration is a mild mutation that causes STGD only in combination with a severe ABCR mutation. This is supported in that the accompanying ABCR mutations in at least five of eight STGD patients are null (severe) and that a combination of two mild mutations has not been observed among 68 STGD patients. The 2588G-->C mutation is present in 1 of every 35 western Europeans, a rate higher than that of the most frequent severe autosomal recessive mutation, the cystic fibrosis conductance regulator gene mutation DeltaPhe508. Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
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- Hjalmarsen, A, et al.
(författare)
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Effect of long-term oxygen therapy on cognitive and neurological dysfunction in chronic obstructive pulmonary disease
- 1999
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Ingår i: European neurology. - : S. Karger AG. - 0014-3022 .- 1421-9913. ; 42:1, s. 27-35
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to assess effect of long-term oxygen therapy (LTOT) on the function of central and autonomic nervous system in patients with hypoxaemic chronic obstructive pulmonary disease (COPD). A battery of neuropsychological tests was used together with the Short Test of Mental Status in addition to transcranial Doppler ultrasonography, and five cardiovascular tests as well as a questionnaire on autonomic function. Ten COPD patients, 4 males and 6 females, with a mean age of 65.9 ± 7.3 (SD) years, were studied at the beginning and after 3 months of LTOT. At start PaO<sub>2</sub> was 6.7 ± 1.1 kPa without oxygen and 9.9 ± 1.5 kPa after 3 months with oxygen. Our results demonstrate that neuropsychological function, cerebral blood flow velocity and autonomic function were positively influenced after 3 months of LTOT although the changes did not reach statistical significance. The COPD patients were cognitively impaired as compared to age-matched healthy controls. Our findings were consistent with the previous notion of improvement of hypoxic cognitive dysfunction by LTOT.
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- Dahl, C. Kaiser, A, & Becker, N.
(författare)
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Culicidae.
- 1999
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Ingår i: Entomofauna Germanica. Stud. Depterologica.. - : AMPYX-Verlag, Halle.
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Bokkapitel (refereegranskat)
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- Dahl, Niklas, et al.
(författare)
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Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction
- 1997
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 6:7, s. 1147-1152
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Tidskriftsartikel (refereegranskat)abstract
- Severe glutathione synthetase (GS) deficiency is a rare genetic disorder with neonatal onset. The enzymatic block of the gamma-glutamyl cycle leads to a generalized glutathione deficiency. Clinically affected patients present with severe metabolic acidosis, 5-oxoprolinuria, increased rate of hemolysis and defective function of the central nervous system. The disorder is inherited in an autosomal recessive mode and, until recently, the molecular basis has remained unknown. We have sequenced 18 GS alleles associated with enzyme deficiency and we detected missense mutations by direct sequencing of cDNAs and genomic DNA. In total, 13 different mutations were identified. Four patients were found to be compound heterozygotes and two individuals were apparently homozygous. Reduced enzymatic activities were demonstrated in recombinant protein expressed from cDNAs in four cases with different missense mutations. The results from biochemical analysis of patient specimens, supported by the properties of the expressed mutant proteins, indicate that a residual activity is present in affected individuals. Our results suggest that complete loss of function of both GS alleles is probably lethal. It is postulated that missense mutations will account for the phenotype in the majority of patients with severe GS deficiency.
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- Hakansson, Sara, et al.
(författare)
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Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer
- 1997
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Ingår i: American Journal of Human Genetics. - 0002-9297. ; 60:5, s. 1068-1078
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Tidskriftsartikel (refereegranskat)abstract
- Previous studies of high-risk breast cancer families have proposed that two major breast cancer-susceptibility genes, BRCA1 and BRCA2, may account for at least two-thirds of all hereditary breast cancer. We have screened index cases from 106 Scandinavian (mainly southern Swedish) breast cancer and breast-ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using the protein-truncation test, SSCP analysis, or direct sequencing. A total of 24 families exhibited 11 different BRCA1 mutations, whereas 11 different BRCA2 mutations were detected in 12 families, of which 3 contained cases of male breast cancer. One BRCA2 mutation, 4486delG, was found in two families of the present study and, in a separate study, also in breast tumors from three unrelated males with unknown family history, suggesting that at least one BRCA2 founder mutation exists in the Scandinavian population. We report 1 novel BRCA1 mutation, eight additional cases of 4 BRCA1 mutations described elsewhere, and 11 novel BRCA2 mutations (9 frameshift deletions and 2 nonsense mutations), of which all are predicted to cause premature truncation of the translated products. The relatively low frequency of BRCA1 and BRCA2 mutations in the present study could be explained by insufficient screening sensitivity to the location of mutations in uncharacterized regulatory regions, the analysis of phenocopies, or, most likely, within predisposed families, additional uncharacterized BRCA genes.
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| 41. |
- Kiivet, RA, et al.
(författare)
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Antibiotic use in 3 European university hospitals
- 1998
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Ingår i: Scandinavian journal of infectious diseases. - : Informa UK Limited. - 0036-5548 .- 1651-1980. ; 30:3, s. 277-280
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Tidskriftsartikel (refereegranskat)
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- Laporte, J., et al.
(författare)
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Characterization of the myotubularin dual specificity phosphatase gene family, from yeast to human
- 1998
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Ingår i: Human Molecular Genetics. - 0964-6906 .- 1460-2083. ; 7:11, s. 1703-1712
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Tidskriftsartikel (refereegranskat)abstract
- X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disorder due to mutations in the MTM1 gene. The corresponding protein, myotubularin, contains the consensus active site of tyrosine phosphatases (PTP) but otherwise shows no homology to other phosphatases. Myotubularin is able to hydrolyze a synthetic analogue of tyrosine phosphate, in a reaction inhibited by orthovanadate, and was recently shown to act on both phosphotyrosine and phosphoserine. This gene is conserved down to yeast and strong homologies were found with human ESTs, thus defining a new dual specificity phosphatase (DSP) family. We report the presence of novel members of the MTM gene family in Schizosaccharomyces pombe, Caenorhabditis elegans, zebrafish, Drosophila, mouse and man. This represents the largest family of DSPs described to date. Eight MTM-related genes were found in the human genome and we determined the chromosomal localization and expression pattern for most of them. A subclass of the myotubularin homologues lacks a functional PTP active site. Missense mutations found in XLMTM patients affect residues conserved in a Drosophila homologue. Comparison of the various genes allowed construction of a phylogenetic tree and reveals conserved residues which may be essential for function. These genes may be good candidates for other genetic diseases.
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| 46. |
- Lundstrom, JO, et al.
(författare)
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Vertical distribution of adult mosquitoes (Diptera: Culicidae) in southern and central Sweden
- 1996
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Ingår i: JOURNAL OF VECTOR ECOLOGY. - : SOC VECTOR ECOLOGY. - 1081-1710. ; 21:2, s. 159-166
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The vertical distribution of adult mosquitoes was studied in southern (Norra Angstrom sum) and central Sweden (Tarnsjo) during August 1995, with an emphasis on the ornithophilic species Culiseta morsitans (Theobald), Culex pipiens L., and Culex torrentium
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| 49. |
- Melberg, Atle, et al.
(författare)
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Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism
- 1996
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Ingår i: Muscle and Nerve. - 0148-639X .- 1097-4598. ; 19:12, s. 1561-9
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Tidskriftsartikel (refereegranskat)abstract
- A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA.
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