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Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F23%3A10471637" target="_blank" >RIV/00216208:11310/23:10471637 - isvavai.cz</a>

  • Result on the web

    <a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=7Cf4nZvNyY" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=7Cf4nZvNyY</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1007/s12041-023-01427-9" target="_blank" >10.1007/s12041-023-01427-9</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia

  • Original language description

    Schizophrenia (SZ) is a highly inherited disease that affects similar to 0.5% of the population. The genetic and environmental factors are involved in its aetiology and they interact with each other. Combination of symptoms is unique to each patient, the disease seriously interferes with the ability to function in society and affects the mental state of the patient. In most patients, the first manifestations of SZ appear during the adolescence or early adulthood. The hypothesis that SZ origin in impaired development of the nervous system is currently widely accepted. Some studies have identified several genetic and environmental factors that increase the risk of the disease manifestation, but none of them can be considered as the only cause of SZ. The genetics of the disease is complex and in last two decades it is assumed that the cryptic rearrangements could be one of its causes. Cryptic rearrangements (microdeletions and microduplications) are the chromosomal rearrangements smaller than 3-5 Mb. Their discovery was conditioned by the development of molecular genetic and molecular cytogenetic techniques. The aberrations affect one or more genes and change the gene dose. In this article, we present the rearrangements of the regions of human chromosomes more closely associated with the onset and development of SZ. Next, the candidate genes will be presented together with their inclusion in the context of theories trying to explain the origin of SZ through some important factors (e.g. action of dopamine or glutamate or GABA, formation of dendrites and neuronal synapses, etc.).

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10600 - Biological sciences

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2023

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Journal of Genetics

  • ISSN

    0022-1333

  • e-ISSN

    0973-7731

  • Volume of the periodical

    102

  • Issue of the periodical within the volume

    1

  • Country of publishing house

    IN - INDIA

  • Number of pages

    10

  • Pages from-to

    30

  • UT code for WoS article

    000984879900001

  • EID of the result in the Scopus database

    2-s2.0-85159002785