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- Bademci, Guney, et al.
(author)
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FOXF2 is required for cochlear development in humans and mice.
- 2019
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In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 28:8, s. 1286-1297
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Journal article (peer-reviewed)abstract
- Molecular mechanisms governing the development of the human cochlea remain largely unknown. Through genome sequencing, we identified a homozygous FOXF2 variant c.325A>T (p.I109F) in a child with profound sensorineural hearing loss associated with incomplete partition type I anomaly of the cochlea. This variant is not found in public databases or in over 1,000 ethnicity-matched control individuals. I109 is a highly conserved residue in the forkhead box (Fox) domain of FOXF2, a member of the Fox protein family of transcription factors that regulate the expression of genes involved in embryogenic development as well as adult life. Our in vitro studies show that the half-life of mutant FOXF2 is reduced compared to that of wildtype. Foxf2 is expressed in the cochlea of developing and adult mice. The mouse knockout of Foxf2 shows shortened and malformed cochleae, in addition to altered shape of hair cells with innervation and planar cell polarity defects. Expressions of Eya1 and Pax3, genes essential for cochlear development, are reduced in the cochleae of Foxf2 knockout mice. We conclude that FOXF2 plays a major role in cochlear development and its dysfunction leads to sensorineural hearing loss and developmental anomalies of the cochlea in humans and mice.
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- Churchard, A. J., et al.
(author)
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A multifaceted approach to hydrogen storage
- 2011
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In: Physical Chemistry Chemical Physics. - : Royal Society of Chemistry (RSC). - 1463-9084 .- 1463-9076. ; 13:38, s. 16955-16972
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Journal article (peer-reviewed)abstract
- The widespread adoption of hydrogen as an energy carrier could bring significant benefits, but only if a number of currently intractable problems can be overcome. Not the least of these is the problem of storage, particularly when aimed at use onboard light-vehicles. The aim of this overview is to look in depth at a number of areas linked by the recently concluded HYDROGEN research network, representing an intentionally multi-faceted selection with the goal of advancing the field on a number of fronts simultaneously. For the general reader we provide a concise outline of the main approaches to storing hydrogen before moving on to detailed reviews of recent research in the solid chemical storage of hydrogen, and so provide an entry point for the interested reader on these diverse topics. The subjects covered include: the mechanisms of Ti catalysis in alanates; the kinetics of the borohydrides and the resulting limitations; novel transition metal catalysts for use with complex hydrides; less common borohydrides; protic-hydridic stores; metal ammines and novel approaches to nano-confined metal hydrides.
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- Roeske-Nielsen, A., et al.
(author)
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Sulfatide inhibits fibroblast growth, activation and oxidative stress induced by ectopic insulin
- 2023
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In: Diabetes Obesity & Metabolism. - 1462-8902.
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Journal article (peer-reviewed)abstract
- Aim: To study the effect of sulfatide on gene expression and proliferation of human primary fibroblasts induced by insulin, insulin-like growth factor-1 and human growth hormone. Materials and Methods: Human primary fibroblasts were exposed to 1, 3 and 30 mu M of sulfatide or its precursor galactosylceramide (GalCer). Proliferation was determined by 3H-thymidine incorporation and gene expression via microarray analysis. Results: Sulfatide and GalCer reduced the growth rate of fibroblasts by 32%-82% when exposed to 0.5 nM insulin. After challenge with 120 mu M of H2O2, sulfatide reduced membrane leakage. Fibroblast gene expression was altered by sulfatide in gene pathways associated with cell cycle/growth, transforming growth factor-beta function, and encoding of proteins involved in intracellular signalling. NFKBIA, a key control element in NF-kappa B regulation, was decreased 2-fold by sulfatide. Conclusions: Sulfatide strongly inhibits fibroblast growth. We therefore suggest the addition of sulfatide to injectable commercial insulin formulations, which would reduce adverse fibroblast growth and improve well-being in patients with diabetes.
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