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dc.contributor.author
Bustamante, M. Leonor
dc.contributor.author
Herrera, Luisa
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Gaspar, Pablo A
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Nieto, Rodrigo
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Maturana, Alejandro
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Villar, Maria Jose
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Salinas Calderon, Valeria Macarena
dc.contributor.author
Silva, Hernan
dc.date.available
2018-06-29T17:43:02Z
dc.date.issued
2017-10
dc.identifier.citation
Bustamante, M. Leonor; Herrera, Luisa; Gaspar, Pablo A; Nieto, Rodrigo; Maturana, Alejandro; et al.; Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype; Wiley-liss, Div John Wiley & Sons Inc; American Journal Of Medical Genetics Part B-neuropsychiatric Genetics; 174; 7; 10-2017; 663-670
dc.identifier.issn
1552-4841
dc.identifier.uri
http://hdl.handle.net/11336/50704
dc.description.abstract
Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several dozen genetic variants have been identified as risk factors through genome-wide association studies including large population-based samples. However, the bulk of the risk cannot be accounted for by the genes associated to date. Rare mutations have been historically seen as relevant only for some infrequent, Mendelian forms of psychosis. Recent findings, however, show that the subset of patients that present a mutation with major effect is larger than expected. We discuss some of the molecular findings of these studies. SZ is clinically and genetically heterogeneous. To identify the genetic variation underlying the disorder, research should be focused on features that are more likely a product of genetic heterogeneity. Based on the phenotypical correlations with rare variants, cognition emerges as a relevant domain to study. Cognitive disturbances could be useful in selecting cases that have a higher probability of carrying deleterious mutations, as well as on the correct ascertainment of sporadic cases for the identification of de novo variants.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley-liss, Div John Wiley & Sons Inc
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Cognitive Disturbances
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Genetic Epidemiology
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Psychosis
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Inmunología
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Medicina Básica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-06-19T16:01:03Z
dc.journal.volume
174
dc.journal.number
7
dc.journal.pagination
663-670
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Hoboken
dc.description.fil
Fil: Bustamante, M. Leonor. Universidad de Chile; Chile
dc.description.fil
Fil: Herrera, Luisa. Universidad de Chile; Chile
dc.description.fil
Fil: Gaspar, Pablo A. Universidad de Chile; Chile
dc.description.fil
Fil: Nieto, Rodrigo. Universidad de Chile; Chile
dc.description.fil
Fil: Maturana, Alejandro. Universidad de Chile; Chile
dc.description.fil
Fil: Villar, Maria Jose. Universidad de Chile; Chile
dc.description.fil
Fil: Salinas Calderon, Valeria Macarena. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina. Universidad de Chile; Chile
dc.description.fil
Fil: Silva, Hernan. Universidad de Chile; Chile
dc.journal.title
American Journal Of Medical Genetics Part B-neuropsychiatric Genetics
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.b.32550
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/ajmg.b.32550
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