Mutations

News Mutations

• Laminopathies: Key components in the disease mechanism identified

  Laminopathies are hereditary diseases that affect mainly the muscle tissue. These diseases include for example Emery-Dreifuss Muscular dystrophy, dilated cardiomyopathy, limb-girdle muscular dystrophy and Hutchison-Gilford progeria syndrome. The underlying defect in these diseases is mutation in the more

• A cautionary tale on genome-sequencing diagnostics for rare diseases

  Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing a child with CDG and pinpointing the exact sugar gene that's mutated can b more

• New structural insight into neurodegenerative disease
  

  A research team from the Korea Advanced Institute of Science and Technology (KAIST) released their results on the structure and molecular details of the neurodegenerative disease-associated protein Ataxin-1. Mutations in Ataxin-1 cause the neurological disease, Spinocerebella Ataxia Type 1 (SCA1), w more

White papers Mutations

• The New Genome Sequencer FLX System
  

  In 2005, the Genome Sequencer 20 System was introduced into the global life science market. Based on the revolutionary 454 sequencing technology, this system is able to generate hundreds of thousands of sequence reads in a few hours at a fraction of costs compared with the traditional Sanger technology. more

• Detection of Avian H5N1 Virus with the LightCycler® Instrument
  

  The avian H5N1 influenza virus has killed thousands of birds and caused several fatal cases in humans in Asia and Turkey. A fast and reliable test to identify the virus is urgently required for an effective epedemiological control, and associated medical research activities. RNA viruses mutate easily. Thus, detection has to focus on conserved sequence regions. The preferred gene for the detection of a broad spectrum of influenza A virus variants is the matrix protein (M2) gene. Tests for the specific detection of the H5N1 virus must detect its hemagglutinin (H5) and neuraminidase (N1) genes. more

• Array Capture-mediated Resequencing Leads to the Discovery of Four Novel Mutations in the Mouse
  

  By using array-based sequence capture and pyrosequencing to sequence an allelic series from the classically defined Kit locus (~200 kb) from each of five noncomplementing Kit mutants (one known allele and four unknown alleles), D'Ascenzo and co-workers discovered and validated a nonsynonymous coding mutation for each allele. These data represent the first documentation and confirmation of the fact that the new technologies can be used to efficiently discover causative mutations. Importantly, these results also provide the framework for constructing the efficient detection of causative mutations in mutant mouse strains moving forward. The standards presented here, coupled with the latest sequence capture methods (e.g., whole-exome arrays or solution-based methods) and next-generation sequencing technologies, promise to signicantly close the gap between phenotype and genotype in the mouse more

Publications Mutations

• Prevalence of Multinucleotide Replacements in Evolution of Primates and Drosophila

  Evolution of sequences mostly involves independent changes at different sites. However, substitutions at neighboring sites may co-occur as multinucleotide replacement events (MNRs). Here, we compare noncoding sequences of several species of primates, and of three species of Drosophila fruit flies, more

• Microbial Variome Database: Point Mutations, Adaptive or Not, in Bacterial Core Genomes

  Analysis of genetic differences (gene presence/absence and nucleotide polymorphisms) among strains of a bacterial species is crucial to understanding molecular mechanisms of bacterial pathogenesis and selecting targets for novel antibacterial therapeutics. However, lack of genome-wide association s more

• Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis

  Development of axons and dendrites constitutes a critical event in neuronal maturation and seems to require signaling through the planar cell polarity (PCP) pathway. Mutations in components of the PCP pathway lead to a spectrum of neurological phenotypes and disorders. For example, a missense mutat more

Market studies Mutations

• Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory Surveillance and High Compliance Standards

  GBI Research’s new report, “Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory Surveillance and High Compliance Standards”, provides in-depth analysis of the unmet needs, drivers and barriers that impact the global gene therapy market. The report analyzes more

• Transgenomic, Inc. (TBIO) - Financial and Strategic SWOT Analysis Review

  Transgenomic, Inc.(Transgenomic) is a publicly held US-based biotechnology company. The company is principally engaged in providing unique products and services for automated high sensitivity genetic variation and mutation analysis. The company also offers products for the synthesis, purification an more

• Myriad Genetics, Inc. (MYGN) - Financial and Strategic SWOT Analysis Review

  Myriad Genetics, Inc. (MYGN) - Financial and Strategic SWOT Analysis Review Summary Myriad Genetics, Inc. (Myriad) is a research focused biotechnology company engaged in the development and commercialization of small molecular diagnostic products. The company offers different medicine products to more

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