17 results for “Genetic disorders”

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Research ArticleOpen accessIn the abstractTen Bioinformatics Tools for Single Nucleotide Polymorphisms DetectionMahin Ghorbani, Hamed KarimiSingle Nucleotide Polymorphisms (SNPs) as unique genetic variations are widely used as biomarkers for drug designing and development for individualized therapy. SNP genotyping techniques such as SBE with MS detection, SBE with fluorescence intensity detection, The FP-TDI, Pyrosequencing and The TaqMan 5’ nuclease assay are low-speed, time consuming and very expensive. To overcome such disadvantages, bioinformatics tools are emerged as … …Current Research in Bioinformatics, Vol. 3, Issue 2 · 10 Apr 2015 · 17,728 accessesView PDF Cite

EditorialOpen accessIn the abstractNeutrophil Extracellular Traps as Therapeutic Targets for Inflammatory DiseaseRory R. KoenenNeutrophilic granulocytes, or neutrophils are the most abundant circulating white blood cell and constitute a first line of defense against pathogens. They are characterized by a large polymorphic lobular nucleus and the presence of many secretory granules in their cytoplasm. Neutrophils are essential for a functional host defense, as is evidenced by the occurrence of severe infections in individuals with … …American Journal of Pharmacology and Toxicology, Vol. 9, Issue 4 · 25 Feb 2015 · 8,737 accessesView PDF Cite

Research ArticleOpen accessIn the abstractUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDF Cite

Research ArticleOpen accessIn the abstractMaternal Infection and Neurodevelopmental Disorders in the OffspringHeping ZhouProblem statement: Neurodevelopmental disorders such as schizophrenia and autism have been attributed to both genetic and environmental factors. Whether and how maternal infection as an environmental factor contributes to the development of neurological abnormalities in the offspring remains to be clearly defined. Approach: The literature was reviewed to examine the relationship between maternal infection and neurological disorders such as schizophrenia … …American Journal of Immunology, Vol. 8, Issue 1 · 12 Mar 2012 · 8,150 accessesView PDF Cite

Research ArticleOpen accessIn the abstractVoltage-Gated Channels as Causative Agents for EpilepsiesMutasem Abuhamed, Xiao Bo, Kun Xia et al.Problem statement: Epilepsy is a common neurological disorder that afflicts 1-2% of the general population worldwide. It encompasses a variety of disorders with seizures. Approach: Idiopathic epilepsies were defined as a heterogeneous group of seizure disorders that show no underlying cause .Voltage-gated ion channels defect were recognized etiology of epilepsy in the central nervous system. The aim of this article … …American Journal of Immunology, Vol. 4, Issue 4 · 31 Dec 2008 · 6,959 accessesView PDF Cite

Research ArticleOpen accessIn the abstractEnvironmental Factors and Limbic Vulnerability in Childhood AutismRichard LatheThe rise in prevalence of autism spectrum disorders (ASD) is suggestive of a new etiology. Diagnostic substitution alone is unlikely to account for the increase, while genetic association with detoxification gene alleles points to an environmental contribution. Subtle structural anomalies in the ASD brain are widespread but limbic damage seems important for the development of behaviors diagnostic of ASD. The … …American Journal of Biochemistry and Biotechnology, Vol. 4, Issue 2 · 30 Jun 2008 · 7,678 accessesView PDF Cite

Research ArticleOpen accessIn the abstractRapamycin Inhibits Cystogenesis by Cystic Epithelial Cells Derived from Human Autosomal Dominant Polycystic KidneysGerard Elberg, Teresa V. Lewis, Lijuan Chen, Martin A. TurmanAutosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders and carries a high health burden since it progresses to renal failure in half of the afflicted individuals by the 6th decade of life. Currently, there is no effective treatment to slow the progression of ADPKD. Rapamycin, a drug most commonly used as an immunosuppressive agent … …American Journal of Pharmacology and Toxicology, Vol. 1, Issue 4 · 31 Dec 2006 · 7,101 accessesView PDF Cite