Topic mutations

News mutations

• Scientists Make Groundbreaking Discovery Of Mutation Causing Genetic Disorder In Humans

  Scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, have identified the genetic cause of a birth defect known as Hamamy syndrome. Their groundbreaking findings were published in Nature Genetics. The work lend more

• A striking link is found between the Fragile-X gene and mutations that cause autism

  A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome. The new more

• BGU Kahn Center research group unravels genetic mutations for intestinal obstruction
  

  Intestinal obstructions have many causes, some of which are genetic. In extreme cases, such as in some instances of cystic fibrosis (CF), intestinal blockages are found even at birth. Ben-Gurion University of the Negev and Soroka University Medical Center Prof. Ohad Birk’s research group has discove more

White papers mutations

• Application of the Amplifluor® SNPs Genotyping System using a FLUOstar OPTIMA microplate reader
  

  The detection of SNPs (single nucleotide polymorphisms) is an important tool for researchers in order to find mutations in DNA sequences. In this application note we describe a homogeneous fluorescence assay based on PCR. The Amplifluor® SNPs HT Genotyping System from Millipore was used to screen a number of samples with the help of the FLUOstar OPTIMA multidetection microplate reader from BMG LABTECH more

• Nobel Prize for Solving the End-Replication Problem
  

  The Nobel Assembly awarded this year's Nobel Prize in Medicine to Elizabeth H. Blackburn, Jack W. Szostak, and Carol W. Greider for the discovery of how chromosomes are protected by telomeres and the enzyme telomerase. With their ingenious genetic research and meticulous biochemical studies, they not only solved a fundamental problem in biology but also opened a new field of research and initiated the development of potential therapies against disease more

• Mutation Scanning Using High Resolution Melting or dHPLC: a Performance Comparison Study
  

  High Resolution Melting (HRM) is a novel and promising screening technique used for mutation analysis and detection. Its application prevents the need to sequence all the exons of a gene when looking for novel mutations. The method is therefore time- and cost-effective for the analysis of large genes comprising many exons. In the research project described here, we compared HRM on the LightCycler® 480 System with denaturing high-performance liquid chromatography (dHPLC), a more conventional method for mutation scanning. A WAVE 4500 HT System has been used for many years in our accredited human genetic laboratory for screening human samples by dHPLC, to identify unknown mutations that can then be characterized in detail by sequence analysis more

Publications mutations

• Glutathione peroxidase tagSNPs: Associations with rectal cancer but not with colon cancer

  Abstract Glutathione peroxidases (GPXs) are selenium‐dependent enzymes that reduce and, thus, detoxify hydrogen peroxide and a wide variety of lipid hydroperoxides. We investigated tagSNPs in GPX1‐4 in relation to colorectal neoplasia in three independent study populations capturing the range of more

• The conserved oligomeric Golgi complex is required for fucosylation of N-glycans in Caenorhabditis elegans

  The conserved oligomeric Golgi complex (COG) is a hetero-octomeric peripheral membrane protein required for retrograde vesicular transport and glycoconjugate biosynthesis within the Golgi. Mutations in subunits 1, 4, 5, 6, 7 and 8 are the basis for a rare inheritable human disease termed congenital more

• Human parvovirus B19 surveillance in patients with rash and fever from Belarus

  Abstract Human parvovirus B19 (B19V) infection in immunocompetent patients usually has a mild clinical course, but during pregnancy it can cause serious and even fatal complications in the fetus. The most common clinical presentation of B19V infection is erythema infectiosum and in this case labo more

Market studies mutations

• 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

• Cancer Bundle

  Biomarker Technology Platforms for Cancer Diagnoses and Therapies Until superior therapeutic treatments are developed to prevent, treat and cure cancer, the best means of reducing mortality and morbidity in a disease this complex is early detection and diagnosis. In the major solid cancer types suc more

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