123 research outputs found

    Referati (I)

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    Mate Mudrovčić: O antihalo-zaštiti fotografskih slojeva .... 243 Per Gustavson: O pitanju snabdijevanja naše kemijske industrije aromatskim spojevima .... 267 P. Mildner: O novijoj primjeni furfurola u organskoj kemijskoj industriji .... 27

    Referati

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    Smiljko Ašperger: O brzini korozije Drago Grdenić: Rentgenska strukturna analiza organskih spojeva II - određivanje strukture molekula Per Gustavson: Novi kemijski procesi u industriji nafte i zemnog plina M. Plotnikov: Fotoaktivno staklo M. Plotnikov: Kserografija M. Žerdik: Ekonomika instrumentalne kontrole Kazimir Šestanj: Piridin-3-sulfonska kiselina Kazimir Šestanj: Diazoketon

    Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

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    RNA binding motif protein X‐linked (RBMX) encodes the heterogeneous nuclear ribonucleoprotein G (hnRNP G) that regulates splicing, sister chromatid cohesion and genome stability. RBMX knock down experiments in various model organisms highlight the gene’s importance for brain development. Deletion of the RGG/RG motif in hnRNP G has previously been associated with Shashi syndrome, however involvement of other hnRNP G domains in intellectual disability remain unknown. In the current study, we present the underlying genetic and molecular cause of Gustavson syndrome. Gustavson syndrome was first reported in 1993 in a large Swedish five-generation family presented with profound X-linked intellectual disability and an early death. Extensive genomic analyses of the family revealed hemizygosity for a novel in-frame deletion in RBMX in affected individuals (NM_002139.4; c.484_486del, p.(Pro162del)). Carrier females were asymptomatic and presented with skewed X-chromosome inactivation, indicating silencing of the pathogenic allele. Affected individuals presented minor phenotypic overlap with Shashi syndrome, indicating a different disease-causing mechanism. Investigation of the variant effect in a neuronal cell line (SH-SY5Y) revealed differentially expressed genes enriched for transcription factors involved in RNA polymerase II transcription. Prediction tools and a fluorescence polarization assay imply a novel SH3-binding motif of hnRNP G, and potentially a reduced affinity to SH3 domains caused by the deletion. In conclusion, we present a novel in-frame deletion in RBMX segregating with Gustavson syndrome, leading to disturbed RNA polymerase II transcription, and potentially reduced SH3 binding. The results indicate that disruption of different protein domains affects the severity of RBMX-associated intellectual disabilities

    Att miljöjustera den ekonomiska tillväxten

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    This essay aims to investigate which results can be derived from an economic growth rate that has been adjusted for environmental damage. In order to do so the usual BNI per capita growth is compared with an adjusted BNI per capita growth. The adjusted growth is derived from the World Banks Adjusted net savings, a way of measuring a nation’s wealth development through the national savings. This measurement is unique in that way, that other economical environmental damage measurements so far have not included carbon dioxideand particulate emission damage. The comparison between the usual and the adjusted growth is tested by economic theories like the Catch up hypothesis and the environmental Kuznets curve. The thesis also wants to cast further light on whether Adjusted net savings is a good starting point for the measurement of adjusted environmental growth. The results show that the adjusted BNI per capita growth can serve as an indicator of whether the environmental damage as a percentage of BNI is increasing or declining. It could also influence policymakers to focus more on sustainability. However there are shortcomings with the Adjusted net savings as a measurement, for example that it doesn't account for global environmental justice. Therefore the essay addresses how more equality between income groups can be reached in an environmental context
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