| 1. |
- Dalgaard, Marlene D., et al.
(author)
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A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation
- 2012
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In: Journal of Medical Genetics. - : BMJ. - 0022-2593 .- 1468-6244. ; 49:1, s. 58-65
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Journal article (peer-reviewed)abstract
- Background Testicular dysgenesis syndrome (TDS) is a common disease that links testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. The incidence of these disorders has increased over the last few decades, and testicular cancer now affects 1% of the Danish and Norwegian male population. Methods To identify genetic variants that span the four TDS phenotypes, the authors performed a genome-wide association study (GWAS) using Affymetrix Human SNP Array 6.0 to screen 488 patients with symptoms of TDS and 439 selected controls with excellent reproductive health. Furthermore, they developed a novel integrative method that combines GWAS data with other TDS-relevant data types and identified additional TDS markers. The most significant findings were replicated in an independent cohort of 671 Nordic men. Results Markers located in the region of TGFBR3 and BMP7 showed association with all TDS phenotypes in both the discovery and replication cohorts. An immunohistochemistry investigation confirmed the presence of transforming growth factor beta receptor type III (TGFBR3) in peritubular and Leydig cells, in both fetal and adult testis. Single-nucleotide polymorphisms in the KITLG gene showed significant associations, but only with testicular cancer. Conclusions The association of single-nucleotide polymorphisms in the TGFBR3 and BMP7 genes, which belong to the transforming growth factor b signalling pathway, suggests a role for this pathway in the pathogenesis of TDS. Integrating data from multiple layers can highlight findings in GWAS that are biologically relevant despite having border significance at currently accepted statistical levels.
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| 2. |
- Jensen, D. Juul, et al.
(author)
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Importance of local structural variations on recrystallization
- 2013
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In: Material Science Forum. - : Trans Tech Publications Inc.. - 9783037856888 ; , s. 37-41
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Conference paper (peer-reviewed)abstract
- Effects of local variations in the deformation microstructure on subsequent recrystallization are discussed and illustrated by three examples. The three examples consider local variations on different length scales and are: 1. Effects of local variations in the deformation microstructure on the formation of protrusions on migrating boundaries. 2. Effects of an inhomogeneous spatial distribution of second phase particles on growth. 3. Effects of stored energy and orientation variations on recrystallization kinetics.
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| 3. |
- Poulsen, S. O., et al.
(author)
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In situ measurements of growth rates and grain-averaged activation energies of individual grains during recrystallization of 50% cold-rolled aluminium
- 2011
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In: Scripta Materialia. - : Elsevier BV. - 1872-8456 .- 1359-6462. ; 64:11, s. 1003-1006
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Journal article (peer-reviewed)abstract
- Three-dimensional X-ray diffraction has been used to study the growth kinetics of 1406 individual grains recrystallizing in 50% cold-rolled aluminium. It is found that each grain follows its own kinetics. The radial growth of individual grains is found to often be piecewise linear, and an explanation based on the cell block microstructure of cold-rolled aluminium is proposed. Grain-averaged activation energies of 793 individual grains are determined, and found to constitute a broad distribution. Reasons and implications of these findings are discussed. (C) 2011 Acta Materialia Inc. Published by Elsevier Ltd. All rights reserved.
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