Genetic Mutations

News Genetic Mutations

• Pathway controlling cell growth revealed

  A Melbourne-based research team has discovered a genetic defect that can halt cell growth and force cells into a death-evading survival state. The finding has revealed an important mechanism controlling the growth of rapidly-dividing cells that may ultimately lead to the development of new treatment more

• Drug shown to reverse radioiodine resistance in some advanced thyroid cancers

  The experimental drug selumetinib may allow some patients with advanced thyroid cancer to overcome resistance to radioiodine (RAI), the most effective therapy for the disease, according to new research from Memorial Sloan-Kettering Cancer Center. Published in the issue of the New England Journal of more

• Nanosensors support skin cancer therapy
  

  Malignant melanoma is the most aggressive type of skin cancer. In more than 50 percent of affected patients a particular mutation plays an important role. As the life span of the patients carrying the mutation can be significantly extended by novel drugs, it is very important to identify those relia more

White papers Genetic Mutations

• High-Throughput Cardiac Gene Expression Analysis Using the Universal ProbeLibrary and the Novel LightCycler® 1536 Real-Time PCR System
  

  Although congenital heart malformations are the most common birth defects in humans, the underlying patho­mechanisms remain widely unknown. Through linkage analyzes and candidate-gene approaches, several gene mutations causing congenital heart defects (e.g., CITED2, GATA4, NKX2-5) have been identified. However, most heart malformations display variable expressivity and pene­trance, which indicates a multifactorial and multigenic basis. This suggests that the regulatory context of transcription factors plays an important role in the manifestation of the defects. In order to better understand the molecular pathways in cardiogenesis and disease we studied the global genetic network that is deregulated in malformed hearts more

• Experimental Workflow for Fast and Accurate Genotyping of Scrapie-resistant/sensitive Sheep
  

  Several scientific studies support the claim that natural scrapie is associated with polymorphisms at three codons within the sheep prion protein (PrP) gene. Genotyping of these codons (codon 136 [alanine, valine], 154 [arginine, histidine], and 171 [glutamine, arginine, histidine]) might enable breeding of sheep flocks with high resistance to scrapie. Fast and reliable high-throughput genotyping of sheep is a major issue, since scrapie is a serious problem in several European countries. To address this, an experimental procedure for DNA preparation and PCR-based detection of codon 136, 154, and 171 polymorphisms was established. more

• Acquired Copy Number Alterations in Adult Acute Myeloid Leukemia Genomes
  

  To complement cytogenetic studies and to identify genes altered in AML genomes, Walter and co-workers performed a genome-wide copy number analysis with paired normal and tumor DNA obtained from 86 adult subjects with de novo AML using 1.85 million feature SNP arrays. A total of 201 somatic CNAs were found in the 86 AML genomes (mean, 2.34 CNAs per genome), with FAB-System M6 and M7 genomes containing the most changes (10-29 CNAs per genome). According to the authors' conclusions, the use of an unbiased high-resolution genomic screen identified many genes not previously implicated in AML that may be relevant for pathogenesis, along with many known oncogenes and tumor suppressor genes. Despite the ability of next-generation sequencing platforms to accurately identify amplifications, deletions, and translocations, a multiplatform approach (traditional cytogenetics, FISH, SNP array, array CGH, and targeted gene resequencing) will continue to be the most practical approach to studying AML genomes at most institut more

Publications Genetic Mutations

• SKP2 High Expression, KIT Exon 11 Deletions, and Gastrointestinal Bleeding as Predictors of Poor Prognosis in Primary Gastrointestinal Stromal Tumors

  by Ang Lv, Zhongwu Li, Xiuyun Tian, Xiaoya Guan, Min Zhao, Bin Dong, Chunyi Hao Background and Aims Considering the indication of adjuvant therapy, the recurrence risk for primary gastrointestinal stromal tumor (GIST) after surgery needs to be accurately estimated. However, current risk stratific more

• Systemic Responses of Mice to Dextran Sulfate Sodium-Induced Acute Ulcerative Colitis Using 1H NMR Spectroscopy

  The interplay between genetic mutation and environmental factors is believed to contribute to the etiology of inflammatory bowel disease (IBD). While focused attention has been paid to the aforementioned research, time-specific and organ-specific metabolic changes associated with IBD are still lacki more

• PIK3CA gene mutation associated with poor prognosis of lung adenocarcinoma

  Zhang L, Shi L, Zhao X, Wang Y, Yue W more

Market studies Genetic 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

• Molecular Diagnostics Market Report: 2011 Edition

  Molecular diagnostics refers to the technique of identifying the presence of any infection or disease, gene mutations, or any type of antigens attacking the body, with the help of the genetic and protein activity patterns of the body. Primarily, the molecular diagnostic tests are performed for three more

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