| 1. |
- Draptchinskaia, Natalia, et al.
(författare)
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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
- 1999
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 21:2, s. 169-75
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Tidskriftsartikel (refereegranskat)abstract
- Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.
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| 2. |
- Norrgren, L, et al.
(författare)
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Effects of potential xenoestrogens (DEHP, nonylphenol and PCB) on sexual differentiation in juvenile Atlantic salmon (Salmo salar)
- 1999
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Ingår i: Aquatic Ecosystem Health & Management. - : Michigan State University Press. - 1463-4988 .- 1539-4077. ; 2:3, s. 311-317
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Tidskriftsartikel (refereegranskat)abstract
- The effects of 17β-estradiol and potential xenoestrogens were investigated on Atlantic salmon (Salmo salar). Juvenile salmon fed diets containing 15 and 30 mg 17β-estradiol kg−1 food for 4 weeks after yolk-sac resorption differentiated into 88 and 100% phenotypic females, respectively. The reference group, fed uncontaminated food, consisted of 49% females. A significant overrepresentation of phenotypic females (64%) was recorded in the group fed 1500 mg di-2-ethylhexyl phthalate kg−1 food. Atlantic salmon fed diets contaminated with nonylphenol showed no differences in sex ratios compared with the control group. A significantly increased liver somatic index was detected for groups exposed to diets contaminated with 15 and 30 mg 17β-estradiol, 300 mg nonylphenol or 1500 mg di-2-ethylhexyl phthalate kg−1 food. Intraperitoneal injections of nonylphenol, di-2-ethylhexyl phthalate, or polychlorinated biphenyls 58, 104, 112 and 188 did not induce synthesis of vitellogenin which is considered to be a hallmark for estrogenic activity in in vivo testing. Therefore, in vivo assays, that is, intraperitoneal injection, can not always predict how endocrine processes in organisms are affected by pollutants.
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| 3. |
- Oxelbark, Joakim, 1970-, et al.
(författare)
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Resolution and chiroptical characterization of two 1,8-bridged naphthalene systems : Naphtho[1,8-cd]-1,2-dithiole 1-oxide and 2H-Naphtho[1,8-bc]thiophene 1-oxide
- 1999
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Ingår i: Acta Chemica Scandinavica. - : Munksgaard Forlag. - 0904-213X .- 1902-3103. ; 53:9, s. 710-713
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Tidskriftsartikel (refereegranskat)abstract
- The enantiomers of the cyclic thiolsulfinate naphtho[1,8-cd]-1,2-dithiole 1-oxide, (+/-)-1, have been obtained by semipreparative chiral liquid chromatography of the racemate and characterized by chiroptical methods. The inherent dissymmetry of the extended chromophore gives rise to a very high specific rotation (>1500 in CH2Cl2 at 546 nm). The enantiomers of the corresponding sulfoxide, 2H-naphtho[1,8-bc]thiophene 1-oxide (+/-)-2, showed the chiroptical behaviour expected for an aryl alkyl sulfoxide. CD spectra of 1 and 2 were completely different and could not be used to determine their relative configuration, showing the large effect from substituting S for CH2 on the electronic transitions in the system. The racemization of (+)-1 was studied at 80 degrees C and the rate was found to be increasing rapidly with increasing polarity of the solvent, being 55 times higher in water than in 1-propanol.
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| 4. |
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