Search Results

1 - 10 of 120 items :

  • Clinical Medicine, other x
  • Clinical Medicine x
Clear All
Review. Development, Applications, Benefits, Challenges and Limitations of the New Genome Engineering Technique. An Update Study

References 1. Yang GK, Jooyen C, Srinivasan C. Hybrid restriction enzymes: Zinc finger fusions to Fok I cleavage domain. Proc Natl Acad Sci USA. 1996;93:1156-1160. 2. Carroll D, Charo RA. The societal opportunities and challenges of genome editing. Genome Biology. 2015;16(1):1-9. 3. Xue HY, Ji LJ, Gao AM, Liu P, He JD, Lu XJ. CRISPR-Cas9 for medical genetic screens: applications and future perspectives. J Med Genet. 2016;53:91-97. 4. Ishino Y, Shinagawa H, Makino K, Amemura M, Nakata A

Open access
Formalin Fixation of Human Healthy Autopsied Tissues: The Influence of Type of Tissue, Temperature and Incubation Time on the Quality of Isolated DNA

.1043/1543-2165-132.12.1929 5. Medeiros, F., Rigl, C.T., Anderson,G.G., Becker, S.H., Halling, K.C. (2007). Tissuehandling for genome-wide expression analysis: a review of the issues, evidence, and opportunities. Arch Pathol Lab Med. 131, 1805–1816.doi: 10.1043/1543-2165(2007)131[1805:THFGEA]2.0.CO;2 6. Lewis, F., Maughan, N.J., Smith, V., Hillan, K., Quirke, P.(2001). Unlocking thearchive–gene expression in paraffin-embedded tissue. J Pathol, 195, 66–71.doi: 10.1002/1096-9896(200109)195:1<66::AID-PATH921>3.0.CO;2-F 7. Masuda, N., Ohnishi, T., Kawamoto, S., Monden, M., Okubo, K

Open access
Psychological Stress – Cellular and Molecular Mechanisms

;138(3):891-9. 11. Yehuda R. Advances in understanding neuroendocrine alterations in PTSD and their therapeutic implications. Ann N Y Acad Sci 2006;1071:137-66. 12. Carvalho LA, Garner BA, Dew T, et al. Antidepressants, but not antipsychotics, modulate GR function in human whole blood: an insight into molecular mechanisms. Eur Neuropsychopharmacol 2010;20(6):379-87. 13. Cole SW, Hawkley LC, Arevalo JM, et al. Social regulation of gene expression in human leukocytes. Genome Biol 2007;8(9):R189. 14. de Quervain DJ, Aerni A, Schelling

Open access
HLA typing in autoimmune diseases

Abstract

Genome scan, linkage and association studies have identified CMH genes in the genetic determinism of most autoimmune diseases, affecting approximately 5% of the population. The susceptibility conferred by HLA alleles does not influence the development of autoimmunity in general, but rather the probability of some disorders. From extremely high number of known HLA alleles, less than 30 are associated with diseases, and fewer than 10 are involved in the strongest associations. The aim of this study was to determine HLA genes in autoimmune diseases. The method used for the assignment of HLA alleles was molecular genotyping, primarily by the sequence specific oligonucleotide hybridization method (SSO), and when required, by the sequence specific primers method (SSP). Molecular genotyping was performed in 282 cases of diabetes mellitus type 1, Hashimoto thyroiditis, Graves’ disease and ankylosing spondylitis. HLA typing in patients with autoimmune diseases is important for determining prognosis and genetic counseling. In ankylosing spondylitis HLA typing is used for differential diagnosis. In such studies it’s important to be aware that there is a particular HLA gene expression depending on the geographic area.

Open access
The Free Radical Theory of Aging In Search of a Strategy for Increasing Life Span / Свободнорадикальная Теория О Старении В Поиске Стратегии Увеличить Продолжительность Жизни

Abstract

This overview is an attempt to throw a fresh look at the popular free radical theory of aging (referred to also as oxidative stress theory) which holds that the progressive decline in physiological functions is a result of accumulation of diverse deleterious changes caused by reactive oxygen species (ROS). We discuss the role of mitochondria as a major source of ROS in the cell and how these link accumulation of oxidative damage to the age-related changes in physiologic functions. The free radical theory of aging is analysed here from two different views of aging - one (the pessimistic view) that regards aging as the inevitable result of life activity the consequences of which are accumulation of errors in the genome and damage of the biomolecules, and the other (the optimistic view) which considers that it is the changes in mitochondrial pathways of apoptosis with age that cause the functional tissue changes and aging.

We also discuss the possibility of delaying the aging process by appropriate diet or drug therapy, which includes also calorie restriction as a mechanism of modifying the generation of free radicals and body metabolism and thus extending lifespan as a result.

Open access
Profiling of Circulating Serum MicroRNAs in Children with Autism Spectrum Disorder using Stem-loop qRT-PCR Assay

References 1. Holt R, Monaco AP. Links between genetics and pathophysiology in the autism spectrum disorders. EMBO; Mol Med 2011;3(8):438-50. 2. Sarachana T, Zhou R, Chen G, et al. Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profi ling of lymphoblastoid cell lines. Genome Med 2010;2(4):23. 3. Abu-Elneel K, Liu T, Gazzaniga FS, et al. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics 2008

Open access
Autism Spectrum Disorder - A Complex Genetic Disorder

quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002;70:60-71. 31. Schellenberg, GD, et al. Evidence for multiple loci from a genome scan of autism kindreds. Mol Psychiatry 2006;11:1049-60. 32. Weiss LA, Arking DE, Daly MJ, et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009;461:802-8. 33. Wang K, Zhang H, Ma D, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009;459:528-33. 34. Anney R, Klei L, Pinto D, et al. A genome-wide scan

Open access
Well-Differentiated Pediatric Glial Neoplasms with Features of Oligodendroglioma, Angiocentric Glioma and Dysembryoplastic Neuroepithelial Tumors: A Morphological Diagnostic Challenge / Oligodendrogliom, Anjiosentrik Gliom ve Disembriyoplastik Nöroepitelyal Tümör Özellikleri Taşıyan İyi Diferansiye Pediatrik Glial Tümörler: Morfolojik Bir Tanısal Sorun

, Mulder HL, Tang C, Ochoa K, Mullighan CG, Gajjar A, Kriwacki R, Sheer D, Gilbertson RJ, Mardis ER, Wilson RK, Downing JR, Baker SJ, Ellison DW; St. Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project. Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nature Genetics. 2013; 45:602-12.

Open access
The Role of Monitoring the Bcr-Abl Transcript Levels in the Management of Patients with Chronic Myeloid Leukemia

decades of transplantation for chronic myeloid leukemia: what have we learned? Blood. 2011;117:755-763. 5. Belli C, Alú MF, Alfonso G, Bianchini M, Larripa I. Novel variant Ph translocation t(9;22;11)(q34;q11.2;p15)inv(9)(p13q34) in chronic myeloid leukemia involving a one-step mechanism. Cytogenet Genome Res. 2011;132(4):304-8. Epub 2011 Jan 6. 6. Jabbour E, Cortes J, Kantarjian H. Optimal First-Line Treatment of Chronic Myeloid Leukemia: How to Use Imatinib and What Role for Newer Drugs? Oncology. 2007;21(6):653-62. 7

Open access
Enterovirus Meningitis in Children from Constanta

systematic genome detection in cerebrospinal fluid irrespective of cytologic examination results. Journal of clinical virology. 21(1), 29-35. 6. de Graaf, H., Pelosi, E., Cooper, A., Pappachan, J., Sykes, K., MacIntosh, I., Gbesemete, D., Clark, T.W., Patel, S.V. & Faust, S.N. (2016). Severe enterovirus infections in hospitalized children in the South of England: clinical phenotypes and causative genotypes. The Pediatric infectious disease journal. 35(7), 723-727; 7. Dagan, R., Jenista, J.A. & Menegus, M.A. (1988). Association of clinical

Open access