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- Bracco, A, et al.
(författare)
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Search for the GDR built on superdeformed nuclei
- 2000
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Ingår i: PHYSICA SCRIPTA. - : ROYAL SWEDISH ACAD SCIENCES. - 0281-1847. ; T88, s. 182-188
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Tidskriftsartikel (refereegranskat)abstract
- An experiment aiming at finding evidence for gamma-decay of the giant dipole resonance built on superdeformed nuclear states has been made using the EUROBALL gamma-detector array coupled to the large BaF2 detectors of the HECTOR system. The reaction Pd-11
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| 4. |
- Carpten, JD, et al.
(författare)
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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
- 2002
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 32:4, s. 676-680
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Tidskriftsartikel (refereegranskat)abstract
- We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors.
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- Scherer, SW, et al.
(författare)
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Human chromosome 7: DNA sequence and biology
- 2003
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 300:5620, s. 767-772
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Tidskriftsartikel (refereegranskat)abstract
- DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
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- Thunes, KH, et al.
(författare)
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The arthropod community of Scots pine (Pinus sylvestris L.) canopies in Norway
- 2004
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Ingår i: Entomologica Fennica. - 0785-8760. ; 15:2, s. 65-90
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Forskningsöversikt (refereegranskat)abstract
- We summarise the findings of arthropods collected by fogging the canopy of 24 pine trees in two sites in Eastern and Western Norway. From the samples, taken in 1998 and in 1999, almost 30,000 specimens were determined to 512 species, with Diptera being most species rich (210 species), followed by Coleoptera (76 species) and Araneae (49 species). Of the 96 new species records, nine were new to science (5 Diptera and 4 Oribatida), two were new to the European, three to the Scandinavian and 82 to the Norwegian faunas. The paper demonstrates the need for detailed faunistical inventories of European forests.
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