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Sökning: WFRF:(Froyen L.)

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1.
  • Hu, H., et al. (författare)
  • X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
  • 2016
  • Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 21:1, s. 133-148
  • Tidskriftsartikel (refereegranskat)abstract
    • X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.
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2.
  • Jarfors, A., et al. (författare)
  • On the thermodynamics and kinetics of carbides in the aluminium-rich corner of the AlTiC phase diagram
  • 1991
  • Ingår i: Materials Science & Engineering. - 0921-5093 .- 1873-4936. ; 135:C, s. 119-123
  • Tidskriftsartikel (refereegranskat)abstract
    • Aluminium composites have a great potential because of their high strength-to-weight ratio. Carbides will in the future be powerful reinforcements. To be able to manufacture these it is of importance to know the thermodynamic properties and the kinetic limitations. The objective of this investigation is to study the equilibria between the carbides occurring in the AlTiC system as well as the initial precipitation and dissolution behaviour of these carbides. It can be shown that there is a change in stability between TiC and Al4C3, depending on both composition and temperature. To study the nucleation and precipitation behaviour of the carbides in liquid aluminium and aluminium alloys a set of alloys were melted and heated to an appropriate temperature in graphite crucibles. The effect of time and the effect of composition on the chemical reactions involving carbides have been investigated. A theoretical analysis of both the thermodynamics and kinetics was performed, giving a tentative explanation. © 1991.
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