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- Barbaro, M, et al.
(författare)
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Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis
- 2012
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Ingår i: International journal of endocrinology. - : Hindawi Limited. - 1687-8345 .- 1687-8337. ; 2012, s. 504904-
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Tidskriftsartikel (refereegranskat)abstract
- A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains theMAGEBgenes and theNR0B1gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively smallNR0B1locus duplications. We have identified anotherNR0B1duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different smallNR0B1locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting thatNR0B1overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate theNR0B1locus also in patients with isolated XY gonadal dysgenesis.
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- Harrie, Lars, et al.
(författare)
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Some strategic national initiatives for the Swedish education in the geodata field
- 2014
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Ingår i: Proceedings of the AGILE'2014 International Conference on Geographic Information Science. - : AGILE Digital Editions. - 9789081696043
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Konferensbidrag (refereegranskat)abstract
- This paper describes national cooperation in Sweden launched by its universities and authorities, aimed at improving geodata education. These initiatives have been focused upon providing common access to geodata, the production of teaching materials in Swedish and organizing annual meetings for teachers. We argue that this type of cooperation is vital to providing high quality education for a poorly recognized subject in a country with a relatively small population.
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- Nygaard, Eva B., et al.
(författare)
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Structural Modeling and Electron Paramagnetic Resonance Spectroscopy of the Human Na+/H+ Exchanger Isoform 1, NHE1
- 2011
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Ingår i: Journal of Biological Chemistry. - 1083-351X. ; 286:1, s. 634-648
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Tidskriftsartikel (refereegranskat)abstract
- We previously presented evidence that transmembrane domain (TM) IV and TM X-XI are important for inhibitor binding and ion transport by the human Na+/H+ exchanger, hNHE1 (Pedersen, S. F., King, S. A., Nygaard, E. B., Rigor, R. R., and Cala, P. M. (2007) J. Biol. Chem. 282, 19716-19727). Here, we present a structural model of the transmembrane part of hNHE1 that further supports this conclusion. The hNHE1 model was based on the crystal structure of the Escherichia coli Na+/H+ antiporter, NhaA, and previous cysteine scanning accessibility studies of hNHE1 and was validated by EPR spectroscopy of spin labels in TM IV and TM XI, as well as by functional analysis of hNHE1 mutants. Removal of all endogenous cysteines in hNHE1, introduction of the mutations A173C (TM IV) and/or I461C (TM XI), and expression of the constructs in mammalian cells resulted in functional hNHE1 proteins. The distance between these spin labels was similar to 15 A, confirming that TM IV and TM XI are in close proximity. This distance was decreased both at pH 5.1 and in the presence of the NHE1 inhibitor cariporide. A similar TM IV.TM XI distance and a similar change upon a pH shift were found for the cariporide-insensitive Pleuronectes americanus (pa) NHE1; however, in paNHE1, cariporide had no effect on TM IV.TM XI distance. The central role of the TM IV.TM XI arrangement was confirmed by the partial loss of function upon mutation of Arg(425), which the model predicts stabilizes this arrangement. The data are consistent with a role for TM IV and TM XI rearrangements coincident with ion translocation and inhibitor binding by hNHE1.
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- Sriram, Renuka, et al.
(författare)
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Imaging apolipoprotein AI in vivo
- 2011
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Ingår i: NMR in Biomedicine. - : Wiley. - 0952-3480. ; 24:7, s. 916-924
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Tidskriftsartikel (refereegranskat)abstract
- Coronary disease risk increases inversely with high-density lipoprotein (HDL) level. The measurement of the biodistribution and clearance of HDL in vivo, however, has posed a technical challenge. This study presents an approach to the development of a lipoprotein MRI agent by linking gadolinium methanethiosulfonate (Gd[MTS-ADO3A]) to a selective cysteine mutation in position 55 of apo AI, the major protein of HDL. The contrast agent targets both liver and kidney, the sites of HDL catabolism, whereas the standard MRI contrast agent, gadolinium-diethylenetriaminepentaacetic acid-bismethylamide (GdDTPA-BMA, gadodiamide), enhances only the kidney image. Using a modified apolipoprotein AI to create an HDL contrast agent provides a new approach to investigate HDL biodistribution, metabolism and regulation in vivo. Copyright (C) 2011 John Wiley & Sons, Ltd.
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