LEADER 05374nam 2200673 450 001 9910132173003321 005 20200520144314.0 010 $a3-527-67222-2 010 $a3-527-67216-8 010 $a3-527-67223-0 035 $a(CKB)3710000000230741 035 $a(EBL)1780451 035 $a(SSID)ssj0001376922 035 $a(PQKBManifestationID)11768265 035 $a(PQKBTitleCode)TC0001376922 035 $a(PQKBWorkID)11318918 035 $a(PQKB)10007056 035 $a(MiAaPQ)EBC1780451 035 $a(Au-PeEL)EBL1780451 035 $a(CaPaEBR)ebr10929008 035 $a(CaONFJC)MIL642314 035 $a(OCoLC)890441752 035 $a(PPN)224824015 035 $a(EXLCZ)993710000000230741 100 $a20140918h20152015 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aNucleic acids as molecular diagnostics /$fedited by Andreas Keller and Eckart Meese 210 1$aWeinheim, Germany :$cWiley-VCH,$d2015. 210 4$dİ2015 215 $a1 online resource (393 p.) 300 $aDescription based upon print version of record. 311 $a3-527-33556-0 311 $a1-322-11063-8 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aNucleic Acids as Molecular Diagnostics; Contents; List of Contributors; Preface; 1 Next-Generation Sequencing for Clinical Diagnostics of Cardiomyopathies; 1.1 Introduction; 1.2 Cardiomyopathies and Why Genetic Testing is Needed; 1.3 NGS; 1.4 NGS for Cardiomyopathies; 1.5 Sample Preparation; 1.6 Bioinformatics Analysis Pipeline; 1.7 Interpretation of Results and Translation into Clinical Practice; References; 2 MicroRNAs as Novel Biomarkers in Cardiovascular Medicine; 2.1 Introduction; 2.2 miRNAs are Associated with Cardiovascular Risk Factors; 2.3 miRNAs in Coronary Artery Disease 327 $a2.4 miRNAs in Cardiac Ischemia and Necrosis2.5 miRNAs as Biomarkers of Heart Failure; 2.6 Future Challenges; Acknowledgments; References; 3 MicroRNAs in Primary Brain Tumors: Functional Impact and Potential Use for Diagnostic Purposes; 3.1 Background; 3.2 Gliomas; 3.2.1 miRNA as Biomarkers in Glioma Tissue; 3.2.2 Circulating miRNA as Biomarkers; 3.3 Meningiomas; 3.4 Pituitary Adenomas; 3.5 Medulloblastomas; 3.6 Other Brain Tumors; 3.6.1 Schwannomas; 3.6.2 PCNSLs; 3.7 Summary and Outlook; References; 4 Genetic and Epigenetic Alterations in Sporadic Colorectal Cancer: Clinical Implications 327 $a4.1 Introduction4.2 Chromosomal Instability; 4.3 Microsatellite Instability; 4.4 Driver Somatic Mutations in CRC; 4.4.1 APC; 4.4.2 TP53; 4.4.3 KRAS; 4.4.4 BRAF; 4.4.5 PIK3CA; 4.4.6 Other Mutations; 4.5 Epigenetic Instability in CRC; 4.6 Hypomethylation; 4.7 CpG Island Methylator Phenotype; 4.8 Concluding Remarks; References; 5 Nucleic Acid-Based Markers in Urologic Malignancies; 5.1 Introduction; 5.2 Bladder Cancer; 5.2.1 Hereditary Factors for Bladder Cancer; 5.2.2 Single Nucleotide Polymorphisms; 5.2.3 RNA Alterations in Bladder Cancer; 5.2.3.1 FGFR3 Pathway; 5.2.3.2 p53 Pathway 327 $a5.2.3.3 Urine-Based Markers5.2.3.4 Serum-Based Markers; 5.2.4 Sporadic Factors for Bladder Cancer; 5.2.5 Genetic Changes in Non-Invasive Papillary Urothelial Carcinoma; 5.2.5.1 FGFR 3; 5.2.5.2 Changes in the Phosphatidylinositol 3-Kinase Pathway; 5.2.6 Genetic Changes in Muscle-Invasive Urothelial Carcinoma; 5.2.6.1 TP53, RB, and Cell Cycle Control Genes; 5.2.6.2 Other Genomic Alterations; 5.2.7 Genetic Alterations with Unrecognized Associations to Tumor Stage and Grade; 5.2.7.1 Alterations of Chromosome 9; 5.2.7.2 RAS Gene Mutations; 5.3 Prostate Cancer 327 $a5.3.1 Hereditary Factors for Prostate Cancer5.3.2 Sporadic Factors for Prostate Cancer; 5.3.2.1 PSA and Other Protein Markers; 5.3.2.2 Nucleic Acid Biomarkers; 5.3.3 Prostate Cancer: Summary; 5.4 Renal Cell Carcinoma; 5.4.1 Hereditary Factors for RCC; 5.4.2 Sporadic Factors for RCC; 5.4.2.1 The Old; 5.4.2.2 The New; 5.5 Summary; References; 6 From the Genetic Make-Up to the Molecular Signature of Non-Coding RNA in Breast Cancer; 6.1 Introduction; 6.2 Molecular Breast Cancer Detection; 6.2.1 Circulating Free DNA; 6.2.2 Long Intergenic Non-Coding RNA; 6.2.2.1 HOTAIR; 6.2.2.2 H19; 6.2.2.3 GAS5 327 $a6.2.2.4 LSINCT5 330 $aBy integrating technology, supporting infrastructure and efficient application, this all-in-one guide presents molecular diagnostics as an essential component of modern, personalized clinical practice. It considers all important aspects, from the hardware and software needed, to recent improvements in blood- and non-blood-based biomarker tests. Chapters on ethical challenges and a look at current trends and the latest innovations are also included.Bridging the gap between industry and academia, this is a highly useful resource for practitioners as well as for developers of modern, DNA- and RNA 606 $aNucleic acids 606 $aMolecular diagnosis 615 0$aNucleic acids. 615 0$aMolecular diagnosis. 676 $a574.87328 702 $aKeller$b Andreas 702 $aMeese$b Eckart 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910132173003321 996 $aNucleic acids as molecular diagnostics$92157517 997 $aUNINA