2016
DOI: 10.1007/s10072-016-2658-y
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Copy number variations and stroke

Abstract: 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 exi… Show more

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Cited by 11 publications
(10 citation statements)
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References 47 publications
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“…This cerebrovascular damage is characterized by brain vessels occlusion or blockage (ischemic stroke), as well as blood vessels rupture (hemorrhagic stroke) 1. Based on the same mechanism of the ischemic stroke with a different period of occurrence, the transient ischemic attack is another type of cerebrovascular accident, with less than 24 hrs of duration 2. Moreover, other classifications or subtypes of these changes are described in the literature, such as subarachnoid hemorrhage, cerebral venous thrombosis, and spinal cord stroke 3.…”
Section: Introductionmentioning
confidence: 99%
“…This cerebrovascular damage is characterized by brain vessels occlusion or blockage (ischemic stroke), as well as blood vessels rupture (hemorrhagic stroke) 1. Based on the same mechanism of the ischemic stroke with a different period of occurrence, the transient ischemic attack is another type of cerebrovascular accident, with less than 24 hrs of duration 2. Moreover, other classifications or subtypes of these changes are described in the literature, such as subarachnoid hemorrhage, cerebral venous thrombosis, and spinal cord stroke 3.…”
Section: Introductionmentioning
confidence: 99%
“…Vale ressaltar que a técnica de microarranjo da DNA tem sido utilizada em pesquisa acadêmica como ferramenta de validação de dados de transcriptoma via RNAseq gerados pelas plataformas de sequenciamento de nova geração (Next Generation Sequencing), as quais apresentam custos cada vez mais acessíveis (KOGENARU et al, 2012). Além dessa aplicação, a demanda por genotipagem para detecção de polimorfismos (especialmente SNPs e CNVs) tem crescido de forma regular (PINTO et al, 2011) especialmente associando tais polimorfismos para o diagnóstico ou predição de fatores de risco em humanos (COLAIANNI et al, 2016).…”
Section: Métodounclassified
“…As sondas consistem de pequenas sequências quimicamente sintetizadas, denominadas de oligonucleotídeos, com tamanho que varia de 25 a 80 pares de bases e imobilizadas na superfície da lâmina (DNA-chip) com o auxílio de tecnologia robótica (CHEUNG;et al, 1999;MILLER;TANG, 2009). O microarranjo de DNA constitui uma das principais técnicas utilizadas para a análise da expressão gênica em larga-escala, sendo bastante difundida devido à necessidade de se monitorar uma grande quantidade de informação gênica gerada pelo sequenciamento de genomas e transcriptomas, com aplicações em diversas áreas de interface com a biologia, como medicina, agropecuária, farmacologia e ciências forenses, entre outras (CHEUNG;et al, 1999;HELLER, 2002;KNAPEN;MILLER;TANG, 2009 Number Variation), tratando-se de um teste rápido para avaliar risco a certas doenças hereditárias ou adquiridas (PINTO et al, 2011) como, por exemplo, propensão a derrames cerebrais (COLAIANNI et al, 2016).…”
Section: Introductionunclassified
“…Stroke is one of the main diseases accounting for global burden of chronic NCDs [1,2]. Globally 15 million experience strokes annually, out of which one third die and a similar number is left disabled [3].…”
Section: Introductionmentioning
confidence: 99%