| 1. |
- Antonarakis, S. E., et al.
(författare)
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Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study
- 1995
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212
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Tidskriftsartikel (refereegranskat)abstract
- Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells ware observed among 225 cases (≃ 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
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| 2. |
- Ramenghi, U., et al.
(författare)
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Diamond-Blackfan anaemia in the Italian population
- 1999
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048 .- 1365-2141. ; 104:4, s. 841-8
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Tidskriftsartikel (refereegranskat)abstract
- Diamond-Blackfan anaemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation: 30% of patients have congenital malformations. The link between these malformations and defective erythropoiesis is unclear: a defect in a molecule acting both on embryo development and haemopoiesis has been proposed. Inheritance is autosomal dominant in most familial cases, but recessive families have also been reported. Many cases are sporadic. A DBA locus has been mapped on chromosome 19q13.2 (Gustavsson et al, 1997), but several families unlinked to this locus have also been reported (Gustavsson et al, 1998). This paper presents clinical, epidemiological and molecular data for DBA in the Italian population. Segregation analysis of 19q markers in patients with DBA showed exclusion of this locus in 5/12 families with inherited DBA. There was evidently locus heterogeneity for DBA in this population. A new microdeletion was identified in one patient. Other families, in which DBA segregates concordantly with the 19q critical region, suggest incomplete penetrance and expressivity of the DBA gene.
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| 3. |
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| 4. |
- Muller, D, et al.
(författare)
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Competitive adsorption of gelatin and sodium dodecylbenzenesulfonate at hydrophobic surfaces
- 1998
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Ingår i: Langmuir. - 0743-7463 .- 1520-5827. ; 14, s. 3107-3114
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Tidskriftsartikel (refereegranskat)abstract
- The competitive adsorption of gelatin and sodium dodecylbenzenesulfonate (SDBS) at hydrophobic surfaces was investigated with surface and interfacial tension measurements, ellipsometry, surface plasmon resonance spectroscopy (SPR), and total internal reflectance fluorescence spectroscopy (TIRF). From both ellipsometry and SPR, initial additions of SDBS after gelatin preadsorption were found to result in a total adsorbed amount increase, as well as in a swelling of the adsorbed layer. At higher SDBS concentrations, both the total adsorbed amount and the amount of gelatin adsorbed decrease, which was observed from ellipsometry, SPR, and TIRF. From surface and interfacial tension measurements, it was found that the critical aggregation concentration (cac) for the SDBS-gelatin system decreases with decreasing pH. Analogous to this, ellipsometry, SPR, and TIRF indicate that the SDBS concentration required to cause a significant decrease in the gelatin adsorbed amount decreases with decreasing pH. The desorption therefore seems to be correlated to the SDBS binding to the adsorbed gelatin molecules rather than to purely competitive adsorption.
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| 5. |
- Muller, D, et al.
(författare)
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Interaction of gelatin and sodium dodecyl benzene sulphonate at oil and water interfaces
- 1997
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Ingår i: Imaging Science Journal. - 1368-2199 .- 1743-131X. ; 45, s. 229-235
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Tidskriftsartikel (refereegranskat)abstract
- Interaction between sodium dodecyl benzene sulphonate (SDBS) and gelatin was studied in relation to emulsification behaviour and emulsion stability. We chose two different oils to study influences of oil phase characteristics, namely, tricresyl phosphate (TCP) as an oil with polar and slightly hydrophilic nature, and n-docedane (nC12) as its apolar contrast. Our interfacial tension measurements showed that both TCP and n-C12 give critical values (i.e., cac and cmc) very close to those of surface tension measurement. This result indicates that the complexation behaviour in bulk solution is independent of the presence or the nature of the oil phase. Absolute tension values above the cmc and slope values at the cmc in gelatin free systems, however, imply SDBC's weaker adsorption to TCP than to n-C12. Our emulsification results for the TCP system revealed the existence of an optiomal point for emulsion stability in the SDBS concentration region between the cac and the cmc. Above this point, emulsion stability deteriorates remarkably. The behaviour is in line with our findings from the dynamic sorption expriments (ellipsometry, TIRF, and SPR) reported elsewhere, which showed a rapid desorption of gelatin from the hydrophobic surfaces above the cac. The results suggest that the adsorption of gelatin/ surfactant complexes at the interface is a key factor for stability of the polar oil emulsion system. Contrary to that , the n-c12 system did not show any deterioration, even above the cmc, which is presumably due to a strong double layer effect from the firmly adsorbed layer of SDBS at the interface.
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| 6. |
- Tamura, K, et al.
(författare)
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Fibronectin stimulates transcription of the platelet-derived growth factor beta-receptor in cultured rat aortic smooth muscle cells.
- 1998
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Ingår i: Biochemical and biophysical research communications. - : Elsevier BV. - 0006-291X. ; 251:3, s. 677-80
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Tidskriftsartikel (refereegranskat)abstract
- Fibronectin seems to play an important role in promoting the characteristic changes of vascular smooth muscle cells in diabetes mellitus including overexpression of the platelet-derived growth factor beta-receptor. To determine the regulatory mechanism of the beta-receptor by fibronectin, we have analyzed the effect of fibronectin on the expression of the beta-receptor in cultured rat aortic smooth muscle cells using the beta-receptor promoter/luciferase expression vector system. Fibronectin was found to stimulate the expression of the beta-receptor at the transcriptional level. Both a MEK1 inhibitor PD98059 and a tyrosine kinase inhibitor herbimycin A significantly inhibited the fibronectin-stimulated receptor transcription. Herbimycin A also completely inhibited the fibronectin-stimulated increase in tyrosine phosphorylation of focal adhesion kinase. These data suggest the involvement of the integrin-mediated mitogen-activated protein kinase pathway downstream of fibronectin stimulation in the activation process of the beta-receptor promoter.
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