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Sökning: WFRF:(Carlberg L)

  • Resultat 41-50 av 51
  • Föregående 1234[5]6Nästa
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  • Karsten, Stanislav L., et al. (författare)
  • Two distinct deletions in the IDS gene and the gene W : a novel type of mutation associated with the Hunter syndrome
  • 1997
  • Ingår i: Genomics. - 0888-7543 .- 1089-8646. ; 43:2, s. 123-129
  • Tidskriftsartikel (refereegranskat)abstract
    • A novel mutation has been identified in a patient with the Hunter syndrome (mucopolysaccharidosis type II), in whom the disorder is associated with two distinct deletions separated by 30 kb. The deletions were characterized by Southern blot and PCR analyses, and the nucleotide sequences at both junctions were determined. The first deletion, corresponding to a loss of 3152 bp of DNA, included exons 5 and 6 of the iduronate-2-sulfatase (IDS) gene. The second deletion was 3603 bp long and included exons 3 and 4 of geneW, which is located in the DXS466 locus telomeric of theIDSgene. Both deletions are the result of nonhomologous (illegitimate) recombination events between short direct repeats at the deletion breakpoints. An interesting finding was the presence of the heptamer sequence 5′-TACTCTA-3′ present at both deletion junctions, suggesting that this motif might be a hot spot for recombination. We propose that the double deletion is the result of homology-associated nonhomologous recombinations caused by the presence of large duplicated regions in Xq27.3–q28.
  • Lee, Min S, et al. (författare)
  • Micelle-induced folding of spinach thylakoid soluble phosphoprotein of 9 kDa and its functional implications
  • 2006
  • Ingår i: Biochemistry. - 1520-4995 .- 0006-2960. ; 45:51, s. 15633-43
  • Tidskriftsartikel (refereegranskat)abstract
    • Thylakoid soluble phosphoprotein of 9 kDa (TSP9) has been identified as a plant-specific protein in the photosynthetic thylakoid membrane (Carlberg et al. (2003) Proc. Natl. Acad. Sci. 100, 757-762). Nonphosphorylated TSP9 is associated with the membrane, whereas, after light-induced phosphorylation, a fraction of the phosphorylated TSP9 is released into the aqueous stroma. By NMR spectroscopy, we have determined the structural features of nonphosphorylated TSP9 both in aqueous solution and in membrane mimetic micelles. The results show that both wild type nonphosphorylated TSP9 and a triple-mutant (T46E + T53E + T60E) mimic of the triphosphorylated form of TSP9 are disordered under aqueous conditions, but adopt an ordered conformation in the presence of detergent micelles. The micelle-induced structural features, which are similar in micelles either of SDS or dodecylphosphocholine (DPC), consist of an N-terminal alpha-helix, which may represent the primary site of interaction between TSP9 and binding partners, and a less structured helical turn near the C-terminus. These structured elements contain mainly hydrophobic residues. NMR relaxation data for nonphosphorylated TSP9 in SDS micelles indicated that the molecule is highly flexible with the highest order in the N-terminal alpha-helix. Intermolecular NOE signals, as well as spin probe-induced broadening of NMR signals, demonstrated that the SDS micelles contact both the structured and a portion of the unstructured regions of TSP9, in particular, those containing the three phosphorylation sites (T46, T53, and T60). This interaction may explain the selective dissociation of phosphorylated TSP9 from the membrane. Our study presents a structural model for the role played by the structured and unstructured regions of TSP9 in its membrane association and biological function.
  • Mullan, Rebecca J, et al. (författare)
  • Systematic reviewers commonly contact study authors but do so with limited rigor.
  • 2009
  • Ingår i: Journal of Clinical Epidemiology. - 0895-4356 .- 1878-5921. ; 62:2, s. 138-142
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: Author contact can enhance the quality of systematic reviews. We conducted a systematic review of the practice of author contact in recently published systematic reviews to characterize its prevalence, quality, and results. STUDY DESIGN AND SETTING: Eligible studies were systematic reviews of efficacy published in 2005-2006 in the 25 journals with the highest impact factor publishing systematic reviews in clinical medicine and the Cochrane Library, identified by searching MEDLINE, EMBASE, and the Cochrane Library. Two researchers determined whether and why reviewers contacted authors. To assess the accuracy of the abstracted data, we surveyed reviewers by e-mail. RESULTS: Forty-six (50%) of the 93 eligible systematic reviews published in top journals and 46 (85%) of the 54 eligible Cochrane reviews reported contacting authors of eligible studies. Requests were made most commonly for missing information: 40 (76%) clinical medicine reviews and 45 (98%) Cochrane reviews. One hundred and nine of 147 (74%) reviewers responded to the survey, and reported a higher rate of author contact than apparent from the published record. CONCLUSION: Although common, author contact is not a universal feature of systematic reviews published in top journals and the Cochrane Library. The conduct and reporting of author contact purpose, procedures, and results require improvement.
  • Venn, Kim A., et al. (författare)
  • The Pristine survey – IX. CFHT ESPaDOnS spectroscopic analysis of 115 bright metal-poor candidate stars
  • 2020
  • Ingår i: Monthly notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 492:3, s. 3241-3262
  • Tidskriftsartikel (refereegranskat)abstract
    • A chemo-dynamical analysis of 115 metal-poor candidate stars selected from the narrow band Pristine photometric survey is presented based on CFHT high-resolution ESPaDOnS spectroscopy, We have discovered 28 new bright (V < 15) stars with I Fe/H] <-2,5 and 5 with 1Fe/11-11 <-3.0 for success rates of 40 (28/70) and 19 per cent (5/27), respectively. A detailed model atmosphere analysis is carried out for the 28 new metal-poor stars. Stellar parameters were determined from SDSS photometric colours, Gala DR2 parallaxes, MESA/MIST stellar isochrones, and the initial Pristine survey metallicities, following a Bayesian inference method, Chemical abundances are determined for 10 elements (Na, Mg, Ca, Sc, Ti, Cr, Fe, Ni, Y, and Ba), Most stars show chemical abundance patterns that are similar to the normal metal-poor stars in the Galactic halo; however, we also report the discoveries of a new r-process-rich star, a new CF.MP-s candidate with I Y/Ba 0, and a metal-poor star with very low I Mg/Fe I, The kinematics and orbits for all of the highly probable metal-poor candidates are determined by combining our precision radial velocities with Gaia DR2 proper motions. Some stars show unusual kinematics for their chemistries, including planar orbits, unbound orbits, and highly elliptical orbits that plunge deeply into the Galactic bulge (Rperi < 0.5 kpc); also, eight stars have orbital energies and actions consistent with the Gaia-Enceladus accretion event. This paper contributes to our understanding of the complex chemo-dynamics of the metal-poor Galaxy, and increases the number of known bright metal-poor stars available for detailed nucleosynthetic studies.
  • Wallace, Stephanie E., et al. (författare)
  • MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
  • 2019
  • Ingår i: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 21:1, s. 144-151
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information to guide aortic disease management are limited.Methods: Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants on kinase activity was assessed.Results: Twenty-three individuals (39%) experienced an aortic event (defined as aneurysm repair or dissection); the majority of these events (87%) were aortic dissections. Aortic diameters were minimally enlarged at the time of dissection in many cases. Time-to-aortic-event curves showed that missense pathogenic variant (PV) carriers have earlier-onset aortic events than null PV carriers. An MYLK missense variant segregated with aortic disease over five generations but decreases MYLK kinase acitivity marginally. Functional Assays fail to identify all pathogenic variants in MYLK.Conclusion: These data further define the aortic phenotype associated with MYLKpathogenic variants. Given minimal aortic enlargement before dissection, an alternative approach to guide the timing of aortic repair is proposed based on the probability of a dissection at a given age.
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  • Resultat 41-50 av 51
  • Föregående 1234[5]6Nästa
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