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Träfflista för sökning "WFRF:(Trager S.) srt2:(2009)"

Sökning: WFRF:(Trager S.) > (2009)

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1.
  • Friedman, James S., et al. (författare)
  • Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa
  • 2009
  • Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297. ; 84:6, s. 792-800
  • Tidskriftsartikel (refereegranskat)abstract
    • Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.449G -> A (p.S150N), in exon 6 of the KLHL7 gene. Mutation screening of KLHL7 in 502 retinopathy probands has revealed three different missense mutations in six independent families. KLHL7 is widely expressed, including expression in rod photoreceptors, and encodes a 75 kDa protein of the BTB-Kelch Subfamily within the BTB superfamily. BTB-Kelch proteins have been implicated in ubiquitination through Cullin E3 ligases. Notably, all three putative disease-causing KLHL7 mutations are within a conserved BACK domain; homology modeling suggests that mutant amino acid side chains can potentially fill the cleft between two helices, thereby affecting the ubiquitination complexes. Mutations in an identical region of another BTB-Kelch protein, gigaxonin, have previously been associated with giant axonal neuropathy. Our studies suggest an additional role of the ubiquitin-proteasome protein-degradation pathway in maintaining neuronal health and in disease.
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2.
  • Lorenz, K, et al. (författare)
  • Europium doping of zincblende GaN by ion implantation
  • 2009
  • Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 105:11, s. 113507-
  • Tidskriftsartikel (refereegranskat)abstract
    • Eu was implanted into high quality cubic (zincblende) GaN (ZB-GaN) layers grown by molecular beam epitaxy. Detailed structural characterization before and after implantation was performed by x-ray diffraction (XRD) and Rutherford backscattering/channeling spectrometry. A low concentration (<10%) of wurtzite phase inclusions was observed by XRD analysis in as-grown samples with their (0001) planes aligned with the {111} planes of the cubic lattice. Implantation of Eu causes an expansion of the lattice parameter in the implanted region similar to that observed for the c-lattice parameter of wurtzite GaN (W-GaN). For ZB-GaN:Eu, a large fraction of Eu ions is found on a high symmetry interstitial site aligned with the 〈110〉 direction, while a Ga substitutional site is observed for W-GaN:Eu. The implantation damage in ZB-GaN:Eu could partly be removed by thermal annealing, but an increase in the wurtzite phase fraction was observed at the same time. Cathodoluminescence, photoluminescence (PL), and PL excitation spectroscopy revealed several emission lines which can be attributed to distinct Eu-related optical centers in ZB-GaN and W-GaN inclusions.
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