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Mitochondrial Disorders Caused by Nuclear Genes
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.
Clinical Applications of PCR
In this updated second edition, leading researchers apply molecular diagnostics to the many recent advances that have occurred in polymerase chain reaction( PCR)-based technologies. Highlights include real-time PCR, which allows the technique to be performed in a quantitative manner with improved sensitivity, robustness, and resilience to carryover contamination, mass spectrometric analysis of nucleic acids, and circulating cell-free nucleic acids in plasma. The authors apply these innovations to a broad spectrum of applications, including gene expression, methylation, trace molecule, gene dosage, and single cell analysis.
Next Generation Sequencing
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future.
Chemical Diagnostics
Next Generation Sequencing: Chemistry, Technology and Applications, by P. Hui Application of Next Generation Sequencing to Molecular Diagnosis of Inherited Diseases, by W. Zhang, H. Cui, L.-J.C. Wong Clinical Applications of the Latest Molecular Diagnostics in Noninvasive Prenatal Diagnosis, by K.C.A. Chan The Role of Protein Structural Analysis in the Next Generation Sequencing Era, by W.W. Yue, D.S. Froese, P.E. Brennan Emerging Applications of Single-Cell Diagnostics, by M. Shirai, T. Taniguchi, H. Kambara Mass Spectrometry in High-Throughput Clinical Biomarker Assays: Multiple Reaction Monitoring, by C.E. Parker, D. Domanski, A.J. Percy, A.G. Chambers, A.G. Camenzind, D.S. Smith, C.H. Borchers Advances in MALDI Mass Spectrometry in Clinical Diagnostic Applications, by E.W.Y. Ng, M.Y.M. Wong, T.C.W. Poon Application of Mass Spectrometry in Newborn Screening: About Both Small Molecular Diseases and Lysosomal Storage Diseases, by W.-L. Hwu, Y.-H. Chien, N.-C. Lee, S.-F. Wang, S.-C. Chiang, L.-W. Hsu
Molecular Pathology in Clinical Practice
This authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing. Since the successful first edition, new sections have been added on pharmacogenetics and genomics, while other sections have been revised and updated to reflect the rapid advances in the field. The result is a superb reference that encompasses molecular biology basics, genetics, inherited cancers, solid tumors, neoplastic hematopathology, infectious diseases, identity testing, HLA typing, laboratory management, genomics and proteomics. Throughout the text, emphasis is placed on the molecular variations being detected, the clinical usefulness of the tests and important clinical and laboratory issues. The second edition of Molecular Pathology in Clinical Practice will be an invaluable source of information for all practicing molecular pathologists and will also be of utility for other pathologists, clinical colleagues and trainees.
Progress in Cystic Fibrosis Research
Cystic fibrosis (CF), also known as munoviscidosis, is a chronic genetic disease involving the dysfunction of the exocrine glands. This dysfunction is manifested as a deficiency in pancreatic enzymes, accumulation of mucous in airways, and excess salt in sweat. Cystic fibrosis was previously restricted to infancy and childhood but developments in medical treatment and therapy have extended survival considerably. This book includes within its scope research aimed at understanding the genetic linkage in cystic fibrosis, as well as improving the diagnosis and treatment of this disease in both children and adults. Leading-edge scientific research from throughout the world is presented.
Peterson's Graduate Programs in Computational, Systems, & Translational Biology; Ecology, Environmental Biology, & Evolutionary Biology; and Entomology
Peterson's Graduate Programs in Computational, Systems, & Translational Biology; Ecology, Environmental Biology, & Evolutionary Biology; and Entomology contains a wealth of information on universities that offer graduate/professional degrees in these fields. Up-to-date data, collected through Peterson's Annual Survey of Graduate and Professional Institutions, provides valuable information on degree offerings, professional accreditation, jointly offered degrees, part-time and evening/weekend programs, postbaccalaureate distance degrees, faculty, students, degree requirements, entrance requirements, expenses, financial support, faculty research, and unit head and application contact information. Readers will find helpful links to in-depth descriptions that offer additional detailed information about a specific program or department, faculty members and their research, and much more. In addition, there are valuable articles on financial assistance, the graduate admissions process, advice for international and minority students, and facts about accreditation, with a current list of accrediting agencies.
Peterson's Graduate Programs in Genetics, Developmental Biology, & Reproductive Biology; Marine Biology; and Microbiological Sciences
Peterson's Graduate Programs in Genetics, Developmental Biology, & Reproductive Biology; Marine Biology; and Microbiological Sciences contains a wealth of information on universities that offer graduate/professional degrees in these fields that include Genomic Sciences, Human Genetics, Molecular Genetics, Teratology, Bacteriology, Immunology, Infectious Diseases, Medical Microbiology, and Virology. Up-to-date data, collected through Peterson's Annual Survey of Graduate and Professional Institutions, provides valuable information on degree offerings, professional accreditation, jointly offered degrees, part-time and evening/weekend programs, postbaccalaureate distance degrees, faculty, studen...
