Search Results - "Sikkink, Robert A"
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Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing
Published in Journal of the American Society of Nephrology (01-05-2012)“…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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Failure of Calcineurin Inhibitors to Prevent Pressure-Overload Left Ventricular Hypertrophy in Rats
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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Mate Pair Sequencing of Whole-Genome-Amplified DNA Following Laser Capture Microdissection of Prostate Cancer
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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Clinical validation of a haplotyping method with next-generation sequencing
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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A simple method for gene phasing using mate pair sequencing
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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Draft Genome Sequences of Nine Pseudomonas aeruginosa Strains, Including Eight Clinical Isolates
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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Inhibition of Calcineurin Phosphatase Activity by a Calcineurin B Homologous Protein
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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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
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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Contribution of neelaredoxin to oxygen tolerance by Treponema pallidum
Published in Methods in enzymology (2002)Get more information
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Development of anti-bovine thrombin antibodies following neurosurgical procedures
Published in British journal of haematology (01-03-1990)Get more information
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