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Träfflista för sökning "WFRF:(Sundstrom K) srt2:(2000-2004)"

Sökning: WFRF:(Sundstrom K) > (2000-2004)

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  • Enberg, B, et al. (författare)
  • Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation
  • 2000
  • Ingår i: European journal of endocrinology. - : Oxford University Press (OUP). - 0804-4643 .- 1479-683X. ; 143:1, s. 71-76
  • Tidskriftsartikel (refereegranskat)abstract
    • Two Swedish brothers, 2.5 and 4 years of age, were found to fulfil all the clinical and laboratory characteristics of Laron's syndrome. They were shown to have unique missense mutations in the GH receptor gene. Both of their parents were of normal height, but they both separately carried one of the identified gene alterations. A molecular model of the first receptor alteration suggests that a collapse in three-dimensional receptor structure most likely contributed to the GH insensitivity in these patients.
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  • Lindstrom, B., et al. (författare)
  • Combined multimode and singlemode fiber
  • 2002
  • Ingår i: Optical Fiber Communication Conference and Exhibit. ; , s. 628-629
  • Konferensbidrag (refereegranskat)abstract
    • A future proof combined MM- and SM-fiber is presented, which combines the advantages of both fiber types and makes upgrading and downgrading cheap and simple.
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  • Walsh, SH, et al. (författare)
  • Mutated V-H genes and preferential V(H)3-21 use define new subsets of mantle cell lymphoma
  • 2003
  • Ingår i: Blood. - : American Society of Hematology. - 1528-0020 .- 0006-4971. ; 101:10, s. 4047-4054
  • Tidskriftsartikel (refereegranskat)abstract
    • Mantle cell lymphoma (MCL) is believed to originate from a naive B cell. However, we recently demonstrated that a subset of MCL displayed mutated V-H genes. We also reported restricted use of certain V-H genes. To assess the prognostic impact of these new findings, we performed V-H gene analysis of 110 patients, revealing that 18 (16%) patients had mutated and 92 (84%) patients had unmutated V-H genes. Because the mutation rate was low in the mutated group (2.2%-6.7%), further investigation of the germline V-H gene in T cells from 5 patients with mutated V-H genes was carried out; results showed that the unrearranged V-H gene was identical to the published sequence. These data confirm that the base pair substitutions within the rearranged V-H genes represent hyper-mutations, and indicate germinal center exposure. However, V-H gene mutation status did not correlate with prognosis because there was no difference in clinical outcome between the unmutated and mutated groups. The most frequently used V-H genes were V(H)3-21 (21 patients) and V(H)4-34 (19 patients). A novel finding was that V(H)3-21(+) MCL almost exclusively ex-pressed X light chains and displayed highly restricted use of the V(lambda)3-19 gene. V(H)3-21(+) patients had longer median survival than the remaining patients (53 vs 34 months; P = .03), but they tended to be younger at diagnosis. The combined use Of V(H)3-21/V(lambda)3-19 suggests a possible role for antigen(s) in the pathogenesis of these tumors and indicates that V(H)3-21(+) patients constitute a new MCL entity. (C) 2003 by The American Society of Hematology.
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