| 1. |
- Weston, M. D., et al.
(författare)
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Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients
- 1996
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Ingår i: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 59:5, s. 1074-1083
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Tidskriftsartikel (refereegranskat)abstract
- Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons. Twenty-three mutations were found segregating with the disease in 20 families. Of the 23 mutations, 13 were unique, and 2 of the 13 unique mutations (Arg212His and Arg212Cys) accounted for the greatest percentage of observed mutant alleles (8/23, 31%). Six of the 13 mutations caused premature stop codons, 6 caused changes in the amino acid sequence of the myosin VIIa protein, and 1 resulted in a splicing defect. Three patients were homozygotes or compound heterozygotes for mutant alleles; these three cases were Tyr333Stop/Tyr333Stop, Arg212His-Arg302His/Arg212His-Arg302His, and IVS13nt-8c-->g/Glu450Gln. All the other USH1B mutations observed were simple heterozygotes, and it is presumed that the mutation on the other allele is present in the unscreened regions of the gene. None of the mutations reported here were observed in 96 unrelated control samples, although several polymorphisms were detected. These results add three patients to single case reported previously where mutations have been found in both alleles and raises the total number of unique mutations in MYO7A to 16.
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| 2. |
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| 3. |
- Frey, Sharon, et al.
(författare)
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Interference of antibody production to hepatitis B surface antigen in a combination hepatitis A/hepatitis B vaccine
- 1999
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Ingår i: Journal of Infectious Diseases. - : Oxford University Press (OUP). - 0022-1899 .- 1537-6613. ; 180:6, s. 2018-2022
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Tidskriftsartikel (refereegranskat)abstract
- A randomized trial comparing 3 manufacturing consistency lots of a combination hepatitis A/hepatitis B vaccine to each other and to hepatitis A vaccine and hepatitis B vaccine given separately and concurrently was done to evaluate safety, tolerability, and immunogenicity. Healthy volunteers >/=11 years of age were divided into 4 groups. Each of 3 groups received a separate consistency lot of the combination vaccine, and 1 group received separate but concurrent injections of hepatitis A and hepatitis B vaccines. Injections were given at weeks 0 and 24. The combination vaccine was generally well tolerated. The hepatitis A portion of the combination vaccine produced clinically acceptable high seropositivity rates 4 and 52 weeks after the first injection. The hepatitis B portion of the vaccine did not produce clinically acceptable seropositivity rates 4 weeks after the second injection. Lack of antibody production may be attributed, at least in part, to immunologic interference.
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| 4. |
- Berger, M, et al.
(författare)
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The multilayer effect in abrasion : optimising the combination of hard and tough phases
- 1999
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Ingår i: Surface & Coatings Technology. - : ELSEVIER SCIENCE SA. - 0257-8972 .- 1879-3347. ; 116-119, s. 1138-1144
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- In the present investigation it is shown that the wear resistance of multilayer PVD coatings, combining relatively soft but tough chromium (Cr) and harder but more brittle chromium nitride (CrN): exceeds that of both its phases. This striking exception to
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| 9. |
- Bergman, F, et al.
(författare)
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Influence of disc topography on generation of brake squeal
- 1999
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Ingår i: WEAR. - : ELSEVIER SCIENCE SA. - 0043-1648. ; 229:1, s. 621-628
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- The influence of the disc topography on the generation of automotive disc brake squeal has been studied. Two brake discs were shot-blasted to produce small pits in the disc surface. The discs were then tested in a special brake squeal rig. During the test
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| 10. |
- Eriksson, M, et al.
(författare)
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Surface characterisation of brake pads after running under silent and squealing conditions
- 1999
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Ingår i: WEAR. - : ELSEVIER SCIENCE SA. - 0043-1648. ; 232:2, s. 163-167
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Despite many investigations over the years to clarify the mechanisms causing automotive brake squeal the phenomenon is not yet fully understood. This payer focuses on the previously almost unexplored area of the connection between brake pad surface topogr
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