Search Results - "Sikkink, Robert A"

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  1. 1

    Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing by ROSSETTI, Sandro, HOPP, Katharina, HARRIS, Peter C, SIKKINK, Robert A, SUNDSBAK, Jamie L, YEAN KIT LEE, KUBLY, Vickie, ECKLOFF, Bruce W, WARD, Christopher J, WINEARLS, Christopher G, TORRES, Vicente E

    “…Mutations in two large multi-exon genes, PKD1 and PKD2, cause autosomal dominant polycystic kidney disease (ADPKD). The duplication of PKD1 exons 1-32 as six…”
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    Journal Article
  2. 2

    Failure of Calcineurin Inhibitors to Prevent Pressure-Overload Left Ventricular Hypertrophy in Rats by Zhang, Weiguo, Kowal, Robert C, Rusnak, Frank, Sikkink, Robert A, Olson, Eric N, Victor, Ronald G

    Published in Circulation research (02-04-1999)
    “…A rapidly emerging body of literature implicates a pivotal role for the Ca phosphatase calcineurin as a cellular target for a variety of Ca signaling pathways…”
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  3. 3

    Mate Pair Sequencing of Whole-Genome-Amplified DNA Following Laser Capture Microdissection of Prostate Cancer by MURPHY, Stephen J, CHEVILLE, John C, ZAREI, Shabnam, JOHNSON, Sarah H, SIKKINK, Robert A, KOSARI, Farhad, FELDMAN, Andrew L, ECKLOFF, Bruce W, JEFFREY KARNES, R, VASMATZIS, George

    Published in DNA research (01-10-2012)
    “…High-throughput next-generation sequencing provides a revolutionary platform to unravel the precise DNA aberrations concealed within subgroups of tumour cells…”
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  4. 4

    Clinical validation of a haplotyping method with next-generation sequencing by Cradic, Kendall W, Murphy, Stephen J, Sikkink, Robert A, Neuhauser, Claudia, Vasmatzis, George, Grebe, Stefan K G

    Published in Clinical chemistry (Baltimore, Md.) (01-02-2015)
    “…Particularly problematic are recessive genes for which compound heterozygosity is relatively common, such as CYP21A2 (cytochrome P450, family 21, subfamily A,…”
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  5. 5

    A simple method for gene phasing using mate pair sequencing by Cradic, Kendall W, Murphy, Stephen J, Drucker, Travis M, Sikkink, Robert A, Eberhardt, Norman L, Neuhauser, Claudia, Vasmatzis, George, Grebe, Stefan K G

    Published in BMC genetics (06-02-2014)
    “…Recessive genes cause disease when both copies are affected by mutant loci. Resolving the cis/trans relationship of variations has been an important problem…”
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  6. 6

    Draft Genome Sequences of Nine Pseudomonas aeruginosa Strains, Including Eight Clinical Isolates by Jeraldo, Patricio, Cunningham, Scott A, Quest, Daniel, Sikkink, Robert A, O'Brien, Daniel, Eckloff, Bruce W, Patel, Robin, Chia, Nicholas

    Published in Genome announcements (Washington, DC) (08-10-2015)
    “…We report on nine draft genomes of Pseudomonas aeruginosa isolates, assembled using a hybrid paired-end and Nextera mate-pair library approach. Eight are of…”
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  7. 7

    Inhibition of Calcineurin Phosphatase Activity by a Calcineurin B Homologous Protein by Lin, X, Sikkink, R A, Rusnak, F, Barber, D L

    Published in The Journal of biological chemistry (17-12-1999)
    “…Calcineurin, a Ca 2+ /calmodulin-stimulated protein phosphatase, plays a key role in T-cell activation by regulating the activity of NFAT ( n uclear f actor of…”
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  8. 8

    Identification of the High Affinity Mn2+ Binding Site of Bacteriophage λ Phosphoprotein Phosphatase:  Effects of Metal Ligand Mutations on Electron Paramagnetic Resonance Spectra and Phosphatase Activities by White, Daniel J, Reiter, Nicholas J, Sikkink, Robert A, Yu, Lian, Rusnak, Frank

    Published in Biochemistry (Easton) (31-07-2001)
    “…Bacteriophage λ phosphoprotein phosphatase (λPP) has structural similarity to the mammalian Ser/Thr phosphoprotein phosphatases (PPPs) including the…”
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    Journal Article
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