Copy number variations and stroke
| Autor: | Rosalucia Mazzei, Sebastiano Cavallaro, Valeria Colaianni |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Neurology Heart disease endocrine system diseases DNA Copy Number Variations Genotype Clinical Neurology Dermatology Review Article Biology Bioinformatics 03 medical and health sciences 0302 clinical medicine Environmental risk mental disorders medicine Humans Copy-number variation Comparative genome hybridization (CGH) arrays Stroke Cause of death Oligonucleotide Array Sequence Analysis Comparative Genomic Hybridization Genome Human General Medicine medicine.disease 3. Good health Psychiatry and Mental health 030104 developmental biology Phenotype DNA copy number variants Single-nucleotide polymorphism (SNP) arrays Human genome Neurology (clinical) 030217 neurology & neurosurgery Comparative genomic hybridization |
| Zdroj: | Neurological Sciences Neurological sciences (Testo stamp.) 37 (2016): 1895–1904. doi:10.1007/s10072-016-2658-y info:cnr-pdr/source/autori:Colaianni V.; Mazzei R.; Cavallaro S./titolo:Copy number variations and stroke/doi:10.1007%2Fs10072-016-2658-y/rivista:Neurological sciences (Testo stamp.)/anno:2016/pagina_da:1895/pagina_a:1904/intervallo_pagine:1895–1904/volume:37 |
| ISSN: | 1590-3478 |
| DOI: | 10.1007/s10072-016-2658-y |
| Popis: | Stroke is the third leading cause of death worldwide after heart disease and all forms of cancers. Monogenic disorders, genetic, and environmental risk factors contribute to damaging cerebral blood vessels and, consequently, cause stroke. Developments in genomic research led to the discovery of numerous copy number variants (CNVs) that have been recently identified as a new tool for understanding the genetic basis of many diseases. This review discusses the current understanding of the types of stroke, the existing knowledge on the involvement of specific CNVs in stroke as well as the limitations of the methods used for detecting CNVs like SNP-microarray. To confirm an unequivocally association between CNVs and stroke and extend the current findings, it would be desirable to use another methodology to detect smaller CNVs or CNVs in genomic regions poorly covered by this technique, for instance, CGH-array. |
| Databáze: | OpenAIRE |
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