| 1. |
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| 2. |
- Dujon, B, et al.
(författare)
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The nucleotide sequence of Saccharomyces cerevisiae chromosome XV
- 1997
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 387:6632, s. 98-102
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Tidskriftsartikel (refereegranskat)abstract
- Chromosome XV was one of the last two chromosomes of Saccharomyces cerevisiae to be discovered(1). It is the third-largest yeast chromosome after chromosomes XII and IV, and is very similar in size to chromosome VII. It alone represents 9% of the yeast genome (8% if ribosomal DNA is included). When systematic sequencing of chromosome XV was started, 93 genes or markers were identified, and most of them were mapped(2). However, very little else was known about chromosome XV which, in contrast to shorter chromosomes, had not been the object of comprehensive genetic or molecular analysis. It was therefore decided to start sequencing chromosome XV only in the third phase of the European Yeast Genome Sequencing Programme, after experience was gained on chromosomes III, XI and II (refs 3-5). The sequence of chromosome XV has been determined from a set of partly overlapping cosmid clones derived from a unique yeast strain, and physically mapped at 3.3-kilobase resolution before sequencing. As well as numerous new open reading frames (ORFs) and genes encoding tRNA or small RNA molecules, the sequence of 1,091,283 base pairs confirms the high proportion of orphan genes and reveals a number of ancestral and successive duplications with other yeast chromosomes.
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| 3. |
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| 4. |
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| 5. |
- Lindholm, E, et al.
(författare)
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Linkage analysis of a Swedish kindred provides further support for a susceptibility locus for schizophrenia on chromosome 6p23
- 1999
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Ingår i: American Journal of Medical Genetics. - 0148-7299 .- 1096-8628. ; 88:4, s. 369-377
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Tidskriftsartikel (refereegranskat)abstract
- Several reports have indicated genetic linkage between markers on the short arm of chromosome 6 and schizophrenia. However, significant threshold levels were not always achieved, and the chromosomal regions identified are large and different in different families. One way to decrease the problem of heterogeneity is to study a single extended pedigree. Here we report the analysis of a very large, previously undescribed pedigree from northern Sweden that includes 31 affected individuals. We typed 16 markers spanning 40 cM on the short arm of chromosome 6. Linkage analysis was performed only with the affected individuals. Suggestive lod scores (maximum 2.6) were obtained with markers on chromosome 6p23 in a single branch of the large pedigree indicating possible heterogeneity inside the family. A haplotype comprising markers from D6S309 to D6S1578 was found to segregate with the disease. This chromosomal region is included within a segment proposed to contain a susceptibility gene for schizophrenia by many other investigators. Our results thus give further support for a possible localization of a susceptibility locus for schizophrenia in 6p23 and help to narrow the candidate chromosomal region to the segment included between markers D6S309 and D6S1578. Copyright 1999 Wiley-Liss, Inc.
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| 6. |
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| 7. |
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| 8. |
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| 9. |
- Anniko, Matti, et al.
(författare)
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Alpha-Bungarotoxin Inhibits Outer Hair Cell Motility in situ
- 1995
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Ingår i: Journal for Oto-Rhino-Laryngology. - : S. Karger AG. - 0301-1569 .- 1423-0275. ; 57:2, s. 105-109
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Tidskriftsartikel (refereegranskat)abstract
- The effect of two substances (alpha-bungarotoxin, alpha-BGTX, a small protein, and the local anesthetic bupivacaine hydrochloride) with an assumed effect on outer hair cell (OHC) motility were analyzed after exposing the cochlea via the round window membrane. Electrophysiological measurements were performed with a very narrow frequency-specific gating (+/- 100 Hz) technique to determine auditory brainstem response (ABR) thresholds, including ABR-based frequency tuning curves. Exposure to alpha-BGTX gave a minor improvement in thresholds, interpreted as a facilitation of OHCs, i.e. releasing their efferent inhibitory control, whereas exposure to bupivacaine hydrochloride impaired ABR thresholds, possibly due to immobilization of OHC motility via the lateral cell membrane. Our results are consistent with the hypothesis that efferent influence on the cochlea may be linked with a modulation of the mechanical function of OHCs. We can now postulate that there is in vivo evidence that acetylcholine exerts its effect at the OHCs via an alpha-BGTX alpha-BGTX binding acetylcholine receptor.
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| 10. |
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| 11. |
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| 12. |
- Balciuniene, Jorune, et al.
(författare)
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Alpha-tectorin involvement in hearing disabilities : One gene-two phenotypes
- 1999
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Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 105:3, s. 211-216
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Tidskriftsartikel (refereegranskat)abstract
- The human alpha-tectorin (TECTA) gene has recently been cloned and proposed to be involved in autosomal dominant non-syndromic hearing impairment (NSHI) in two families linked to the DFNA12 locus. We have studied a Swedish pedigree with autosomal dominant NSHI with possible digenic inheritance of the disease, involving locus DFNA12 in chromosome 11 and locus DFNA2 in chromosome 1. Mutation analysis of the TECTA gene in this family has identified eight nucleotide substitutions indicating that TECTA is highly polymorphic. One of the changes results in a cysteine to serine (C 1057 S) mutation, in the zonadhesin domain of TECTA; this segregates with the disease haplotype on chromosome 11 and is not present in a control population. The mutation results in the replacement of a cysteine in one of the repeats of the zonadhesin/Von Willebrand domain of the protein and might cause a change in the crosslinking of the polypeptide. These findings add support to the involvement of TECTA in hearing disabilities. However, the three families carrying different TECTA mutations also show phenotypic differences: the hearing loss ranges from prelingual to progressive with late onset. The explanation for the different phenotypes and some clues regarding the functions of TECTA may lie in the localization of the mutations in the different modules of the protein. Another possibility is that the phenotype in the Swedish family is the result of two defective genes.
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| 13. |
- Balciuniene, Jorune, et al.
(författare)
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Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family
- 1998
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 63:3, s. 786-93
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Tidskriftsartikel (refereegranskat)abstract
- We investigated a Swedish family with nonsyndromic progressive bilateral sensorineural hearing loss. Thirteen candidate loci for autosomal dominant nonsyndromic hearing loss were tested for linkage in this family. We found significant LOD scores (>3) for markers at candidate locus DFNA12 (11q22-q24) and suggestive LOD scores (>2) for markers at locus DFNA2 (1p32). Our results for markers on chromosome 11 narrowed down the candidate region for the DFNA12 locus. A detailed analysis of the phenotypes and haplotypes shared by the affected individuals supported the notion that two genes segregated together with hearing impairment in the family. Severely affected family members had haplotypes linked to the disease allele on both chromosomes 1 and 11, whereas individuals with milder hearing loss had haplotypes linked to the disease allele on either chromosome 1 or chromosome 11. These observations suggest an additive effect of two genes, each gene resulting in a mild and sometimes undiagnosed phenotype, but both together resulting in a more severe phenotype.
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| 14. |
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| 15. |
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| 16. |
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| 17. |
- Björk, Thomas, et al.
(författare)
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Comparison of analysis of the different prostate-specific antigen forms in serum for detection of clinically localized prostate cancer
- 1996
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Ingår i: Urology. - 1527-9995. ; 48:6, s. 882-888
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To compare different forms and ratios of serum prostate-specific antigen (PSA) to determine which form or ratio provides optimal diagnostic specificity and sensitivity in distinguishing between benign prostatic hyperplasia (BPH) and clinically localized prostate cancer. METHODS: Serum samples were obtained from 47 patients with BPH and 39 with clinically localized prostate cancer. Patients with BPH underwent either transurethral resection of the prostate or transurethral microwave thermotherapy. Patients with prostate cancer, all of whom had no metastases on radionucleotide bone scans and no pelvic lymph node involvement, underwent either radical external beam radiation therapy or radical retropubic prostatectomy. All patients had pretreatment serum PSA levels between 1 and 20 ng/mL. The different forms of serum PSA (free PSA [PSA-F], PSA complexed to alpha 1-antichymotrypsin [PSA-ACT], and total PSA [PSA-T]) were measured using different monoclonal antibodies against PSA and ACT and immunofluorometric assay techniques. Furthermore, three ratios (PSA-F/PSA-T, PSA-ACT/PSA-T, and PSA-F/PSA-ACT) were calculated. RESULTS: By receiver operating characteristic curve analysis, the performance of the different forms and ratios were compared. The PSA-F/PSA-T ratio had the greatest area under the curve (AUC, 0.776), significantly larger than that for PSA-T (0.612; P = 0.024). For PSA-ACT/PSA-T, the AUC was 0.695 (P = 0.283 versus PSA-T) and 0.773 for PSA-F/PSA-ACT (P = 0.051 versus PSA-T). At a cutoff level < 0.17, PSA-F/PSA-T had a sensitivity of 79%, a specificity of 66%, and a positive predictive value of 66% compared with 74%, 38%, and 50%, respectively, for PSA-T at a cutoff level > 4.0 ng/mL. CONCLUSIONS: The PSA-F/PSA-T ratio gives the best diagnostic performance compared with that for other forms and ratios of PSA and will reduce the number of prostatic biopsies in patients with BPH.
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| 18. |
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| 19. |
- de Carolis, Stefano, et al.
(författare)
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Structure and electronic properties of Ca-doped CeO2 and implications on catalytic activity : An experimental and theoretical study
- 1999
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Ingår i: J PHYS CHEM B. - : American Chemical Society (ACS). - 1089-5647. ; 103:36, s. 7627-7636
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Tidskriftsartikel (refereegranskat)abstract
- Doping CeO2 with for example, Ca gives an enhanced reactivity toward reduction of SO2 by CO, and total combustion of methane. Theoretical modeling using static minimizations and molecular dynamics (MD) simulations of the doped (110) face in combination with ab initio quantum chemical cluster models shows large effects on the Ce(IV)/Ce(III) balance due to the doping. Computed oxygen-to-cerium charge-transfer energies are strongly reduced as a result of the introduction of defects and oxygen vacancies, but not sufficiently to explain the observed reactivities. The structures resulting from the MD simulations for both the doped and undoped material are in good agreement with recent experimental pulsed neutron scattering results.
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| 20. |
- Edman Ahlbom, Bodil, et al.
(författare)
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Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype
- 1996
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Ingår i: American Journal of Medical Genetics. Part A. - 1552-4825 .- 1552-4833. ; 63:4, s. 566-572
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Tidskriftsartikel (refereegranskat)abstract
- Down syndrome (DS) is caused in most cases by the presence of an extra chromosome 21. It has been shown that the DS phenotype is produced by duplication of only a small part of the long arm of chromosome 21, the 21q22 region, including and distal to locus D21S55. We present molecular investigations on a woman with clinically typical DS but apparently normal chromosomes. Her parents were consanguineous and she had a sister with a DS phenotype, who died at the age of 15 days. Repeated cytogenetic investigations (G-banding and high resolution banding) on the patient and her parents showed apparently normal chromosomes. Autoradiographs of quantitative Southern blots of DNAs from the patient, her parents, trisomy 21 patients, and normal controls were analyzed after hybridization with unique DNA sequences regionally mapped on chromosome 21. Sequences D21S59, D21S1, D21S11, D21S8, D21S17, D21S55, ERG, D21S15, D21S112, and COL6A1 were all found in two copies. Fluorescent in situ hybridization with a chromosome 21-specific genomic library showed no abnormalities and only two copies of chromosome 21 were detected. Nineteen markers from the critical region studied with polymerase chain reaction amplification of di- and tetranucleotide repeats did not indicate any partial trisomy 21. From this study we conclude that the patient does not have any partial submicroscopic trisomy for any segment of chromosome 21. It seems reasonable to assume that she suffers from an autosomal recessive disorder which is phenotypically indistinguishable from DS.
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| 21. |
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| 22. |
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| 23. |
- Gunnarsson, I, et al.
(författare)
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Olsalazine-induced lupus syndrome
- 1997
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Ingår i: Scandinavian journal of rheumatology. - : Informa UK Limited. - 0300-9742 .- 1502-7732. ; 26:1, s. 65-66
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Tidskriftsartikel (refereegranskat)
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| 24. |
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| 25. |
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| 26. |
- Herrera-Marschitz, M, et al.
(författare)
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On the origin of extracellular glutamate levels monitored in the basal ganglia of the rat by in vivo microdialysis
- 1996
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Ingår i: Journal of Neurochemistry. - : Wiley. - 0022-3042 .- 1471-4159. ; 66:4, s. 1726-1735
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Tidskriftsartikel (refereegranskat)abstract
- Several putative neurotransmitters and metabolites were monitored simultaneously in the extracellular space of neostriatum, substantia nigra, and cortex and in subcutaneous tissue of the rat by in vivo microdialysis. Glutamate (Glu) and aspartate (Asp) were at submicromolar and gamma-aminobutyric acid (GABA) was at nanomolar concentrations in all brain regions. The highest concentration of dopamine (DA) was in the neostriatum. Dynorphin B (Dyn B) was in the picomolar range in all brain regions. Although no GABA, DA, or Dyn B could be detected in subcutaneous tissue, Glu and Asp levels were 5 and approximately 5 and approximately 0.4 microM, respectively. Lactate and pyruvate concentrations were approximately 200 and approximately 10 microM in all regions. The following criteria were applied to ascertain the neuronal origin of substances quantified by microdialysis: sensitivity to (a) K+ depolarization, (b) Na+ channel blockade, (c) removal of extracellular Ca2+, and (d) depletion of presynaptic vesicles by local administration of alpha-latrotoxin. DA, Dyn B, and GABA largely satisfied all these criteria. In contrast, Glu and Asp levels were not greatly affected by K+ depolarization and were increased by perfusing with tetrodotoxin or with Ca2+-free medium, arguing against a neuronal origin. However, Glu and Asp, as well as DA and GABA, levels were decreased under both basal and K+-depolarizing conditions by alpha-latrotoxin. Because the effect of K+ depolarization on Glu and Asp could be masked by reuptake into nerve terminals and glial cells, the reuptake blocker dihydrokainic acid (DHKA) or L-trans-pyrrolidine-2,4-dicarboxylic acid (PDC) was included in the microdialysis perfusion medium. The effect of K+ depolarization on Glu and Asp levels was increased by DHKA, but GABA levels were also affected. In contrast, PDC increased only Glu levels. It is concluded that there is pool of releasable Glu and Asp in the rat brain. However, extracellular levels of amino acids monitored by in vivo microdialysis reflect the balance between neuronal release and reuptake into surrounding nerve terminals and glial elements.
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| 27. |
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| 28. |
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| 29. |
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| 30. |
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| 31. |
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| 32. |
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| 33. |
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| 34. |
- Lagerström-Fermér, Maria, et al.
(författare)
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Amelogenin signal peptide mutation : correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta
- 1995
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Ingår i: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 26:1, s. 159-162
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Tidskriftsartikel (refereegranskat)abstract
- Formation of tooth enamel is a poorly understood biological process. In this study we describe a 9-bp deletion in exon 2 of the amelogenin gene (AMGX) causing X-linked hypoplastic amelogenesis imperfecta, a disease characterized by defective enamel. The mutation results in the loss of 3 amino acids and exchange of 1 in the signal peptide of the amelogenin protein. This deletion in the signal peptide probably interferes with translocation of the amelogenin protein during synthesis, resulting in the thin enamel observed in affected members of the family. We compare this mutation to a previously reported mutation in the amelogenin gene that causes a different disease phenotype. The study illustrates that molecular analysis can help explain the various manifestations of a tooth disorder and thereby provide insights into the mechanisms of tooth enamel formation.
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| 35. |
- Larsson, D. G. Joakim, 1969, et al.
(författare)
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Ethinyloestradiol – an undesired fish contraceptive?
- 1999
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Ingår i: Aquatic Toxicology. - 0166-445X .- 1879-1514. ; 45:2-3, s. 91-97
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Tidskriftsartikel (refereegranskat)abstract
- Environmental oestrogens are natural or synthetic substances present in the environment, which imitate the effects of endogenous oestrogen. Oestrogenic substances were identified by gas chromatography/mass spectrometry in effluent water from a Swedish sewage treatment works receiving mainly domestic wastewater. Substances found include the synthetic oestrogen used in contraceptives 17 alpha-ethinyloestradiol (4.5 ng l(-1)), the natural oestrogens oestrone (5.8 ng l(-1)) and 17 beta-oestradiol (1.1 ng l(-1)), and the weaker non-steroidal oestrogens 4-nonylphenol (840 ng l(-1)) and bisphenol A (490 ng l(-1)). Ethinyloestradiol exceeded levels shown to be oestrogenic to fish by 45 times. The oestrogenicity of the effluent water was investigated by introducing juvenile rainbow trout (Oncorhynchus mykiss) in cages downstream of the sewage treatment works. After 2 weeks, all oestrogens indicated were present in the bile of the fish, and the oestrogen inducible protein, vitellogenin, was found in large amounts in the plasma (1.5 mg ml(-1)), as determined by enzyme-linked immunosorbent assay and Western blotting. Thus, a widely used synthetic oestrogen affects the endocrine systems of fish exposed to sewage effluent water.
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| 36. |
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| 37. |
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| 38. |
- Lilja, Hans, et al.
(författare)
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Significance and metabolism of complexed and noncomplexed prostate specific antigen forms, and human glandular kallikrein 2 in clinically localized prostate cancer before and after radical prostatectomy
- 1999
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Ingår i: Journal of Urology. - 1527-3792. ; 162:6, s. 2029-2035
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: We studied plasma concentrations and elimination rates of prostate specific antigen (PSA) complexed to alpha1-antichymotrypsin and alpha2-macroglobulin, free PSA, total PSA (free PSA plus PSA alpha1-antichymotrypsin) and human glandular kallikrein 2 before, during and after radical retropubic prostatectomy for clinically localized prostate cancer. MATERIALS AND METHODS: Plasma was collected and frozen within 10 minutes after sampling from 18 patients undergoing radical retropubic prostatectomy for prostate cancer. One sample was drawn preoperatively. Subsequent sampling intervals were 5 to 20 minutes perioperatively, 2 to 4 hours during the first 12 postoperative hours and 24 to 48 hours until postoperative day 14. Free PSA, PSA alpha1-antichymotrypsin, total PSA, PSA alpha2-macroglobulin and human glandular kallikrein 2 were measured with time resolved immunofluorometric assays. RESULTS: Preoperatively PSA alpha2-macroglobulin was undetectable (less than 2 ng./ml.) in 17 of 18 patients. Human glandular kallikrein 2, free PSA and total PSA but not PSA alpha1-antichymotrypsin were significantly higher in patients with extraprostatic cancer (pT3a-pT4a, pN1) compared to those with organ confined cancer (pT2a/b). Surgical manipulation of the prostate caused no detectable elevation of human glandular kallikrein 2, PSA alpha1-antichymotrypsin or PSA alpha2-macroglobulin. In contrast, a mean 9.6-fold increase (range 3.4 to 22) in free PSA was noted 5 minutes after prostatectomy. Free PSA was eliminated from plasma in a biphasic exponential pattern with an early plasma half-life of 55 minutes and a late plasma half-life of 18 hours. PSA alpha1-antichymotrypsin decreased slowly, whereas human glandular kallikrein 2 was detectable only 12 hours after prostatectomy. PSA alpha2-macroglobulin remained at insignificant, nondetectable concentrations during the entire perioperative and postoperative period. CONCLUSIONS: Release of free PSA contributes to the elevation of plasma total PSA after prostatectomy. Free PSA is enzymatically inactive as the release does not result in subsequent elevation of PSA alpha1-antichymotrypsin or PSA alpha2-macroglobulin. Biphasic exponential elimination of free PSA may be explained by rapid extracellular redistribution (early half-life) and glomerular filtration in the kidneys (late half-life). Our data suggest rapid metabolism of human glandular kallikrein 2 but do not support suggestions of the significance in vivo of complex formations with alpha2-macroglobulin as a major means to eliminate PSA from plasma in patients with clinically localized prostate cancer.
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| 39. |
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| 40. |
- Mannervik, B, et al.
(författare)
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An evolutionary approach to the design of glutathione-linked enzymes
- 1998
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Ingår i: CHEMICO-BIOLOGICAL INTERACTIONS. - : ELSEVIER SCI IRELAND LTD. - 0009-2797. ; 112, s. 15-21
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Studies of protein structure provide information about principles of protein design that have come into play in natural evolution. This information can be exploited in the redesign of enzymes for novel functions. The glutathione-binding domain of glutathi
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| 41. |
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| 42. |
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| 43. |
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| 44. |
- Ostensen, R, et al.
(författare)
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ESO & NOT photometric monitoring of the Cloverleaf quasar
- 1997
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Ingår i: ASTRONOMY & ASTROPHYSICS SUPPLEMENT SERIES. - : E D P SCIENCES. - 0365-0138. ; 126:3, s. 393-400
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The Cloverleaf quasar, H1413+117, has been photometrically monitored at ESO (La Silla, Chile) and with the NOT (La Palma, Spain) during the period 1987-1994. All good quality CCD frames have been successfully analysed using two independent methods (i.e. a
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| 45. |
- Pahlm, Ulrika, et al.
(författare)
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Comparison of teaching the basic electrocardiographic concept of frontal plane QRS axis using the classical versus the orderly electrocardiogram limb lead displays
- 1997
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Ingår i: American Heart Journal. - 1097-6744. ; 134:6, s. 1014-1018
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Tidskriftsartikel (refereegranskat)abstract
- This study compares the effectiveness of teaching the calculation of frontal plane QRS axis with the use of the classical versus the orderly electrocardiographic limb lead display. Eighty-three students from two environments were randomized into two groups and were taught to determine frontal plane axis with one of the methods. The accuracy and time to determine the axis were tested on 10 electrocardiograms. In the United States the group using the classical display achieved 4.2 (+/-2.7) correct answers, whereas those using the orderly method achieved 6.8 (+/-3.0) (p = 0.0006). The classical group used 9.2 (+/-2.8) minutes to complete the test, whereas the orderly group needed 7.2 (+/-2.0) minutes (p = 0.015). The results achieved in Sweden were similar. The use of the orderly electrocardiographic limb lead display results in greater diagnostic accuracy in less time than the classical display when determining the frontal plane QRS axis.
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| 46. |
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| 47. |
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| 48. |
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| 49. |
- Pettersson, E
(författare)
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IgA nephropathy: 30 years on
- 1997
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Ingår i: Journal of internal medicine. - : Wiley. - 0954-6820. ; 242:5, s. 349-353
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Tidskriftsartikel (refereegranskat)
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| 50. |
- Pettersson, E, et al.
(författare)
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Molecular basis of IgA in IgA nephropathy.
- 1996
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Ingår i: JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. - 1046-6673. ; 7:9, s. A2666-A2666
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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