TP53 Pathogenic variants related to cancer
TP53 o P53 es un gen supresor de tumores conocido como el “guardián del genoma”, encargado de inducir la respuesta de la célula ante el daño del ADN, deteniendo el ciclo celular en caso de mutación, activando enzimas de reparación del ADN, iniciando el proceso de senescencia celular y activación de...
- Autores:
-
Rosero Galindo, Carol Yovanna
Mejía, L.
Corredor, M.
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2019
- Institución:
- Universidad Cooperativa de Colombia
- Repositorio:
- Repositorio UCC
- Idioma:
- OAI Identifier:
- oai:repository.ucc.edu.co:20.500.12494/15945
- Acceso en línea:
- https://hdl.handle.net/20.500.12494/15945
- Palabra clave:
- Neoplasma
Fosfoproteína nuclear p53
Supresor de tumor
Mutation
Clinvar
Uniprot
Neoplasms
nuclear phosphoprotein p53
Tumor Suppressor
mutation
Clinvar
Uniprot
- Rights
- openAccess
- License
- Atribución
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| dc.title.spa.fl_str_mv |
TP53 Pathogenic variants related to cancer |
| title |
TP53 Pathogenic variants related to cancer |
| spellingShingle |
TP53 Pathogenic variants related to cancer Neoplasma Fosfoproteína nuclear p53 Supresor de tumor Mutation Clinvar Uniprot Neoplasms nuclear phosphoprotein p53 Tumor Suppressor mutation Clinvar Uniprot |
| title_short |
TP53 Pathogenic variants related to cancer |
| title_full |
TP53 Pathogenic variants related to cancer |
| title_fullStr |
TP53 Pathogenic variants related to cancer |
| title_full_unstemmed |
TP53 Pathogenic variants related to cancer |
| title_sort |
TP53 Pathogenic variants related to cancer |
| dc.creator.fl_str_mv |
Rosero Galindo, Carol Yovanna Mejía, L. Corredor, M. |
| dc.contributor.advisor.none.fl_str_mv |
Rosero Galindo, Carol Yovanna |
| dc.contributor.author.none.fl_str_mv |
Rosero Galindo, Carol Yovanna Mejía, L. Corredor, M. |
| dc.subject.spa.fl_str_mv |
Neoplasma Fosfoproteína nuclear p53 Supresor de tumor Mutation Clinvar Uniprot |
| topic |
Neoplasma Fosfoproteína nuclear p53 Supresor de tumor Mutation Clinvar Uniprot Neoplasms nuclear phosphoprotein p53 Tumor Suppressor mutation Clinvar Uniprot |
| dc.subject.other.spa.fl_str_mv |
Neoplasms nuclear phosphoprotein p53 Tumor Suppressor mutation Clinvar Uniprot |
| description |
TP53 o P53 es un gen supresor de tumores conocido como el “guardián del genoma”, encargado de inducir la respuesta de la célula ante el daño del ADN, deteniendo el ciclo celular en caso de mutación, activando enzimas de reparación del ADN, iniciando el proceso de senescencia celular y activación de la apoptosis. Las mutaciones en la secuencia del gen pueden originar mutaciones no sinónimas o errores en el marco de lectura por la inserción, deleción o desplazamiento de nucleótidos: ejemplo, mutación c.358A>G en el exón 4 y variantes que se albergan en los exones 9 y 10 del dominio TD. Por lo tanto en esta revisión examinaremos cambios en el marco de lectura, incluyendo la pérdida de una o dos pares de bases, que podrían impedir la exacta transcripción o cambiar la estructura y función de la proteína o perjudicar completamente la función de reparación. Tales cambios promueven la auto-suficiencia en la señal de crecimiento, la insensibilidad a señales anticrecimiento y la evasión de la apoptosis, lo que resulta en la replicación ilimitada y la inducción de angiogénesis metastásica, generando como consecuencia la proliferación de células tumorales, neoplásicas y linfoides. Teniendo en cuenta la importancia del TP53 en la regulación del ciclo celular, el objetivo de la presente revisión es actualizar la información relacionada con el papel de este gen en el desarrollo de cáncer y la descripción de las variaciones genéticas. |
| publishDate |
2019 |
| dc.date.issued.none.fl_str_mv |
2019-12-30 |
| dc.date.accessioned.none.fl_str_mv |
2020-01-15T19:40:50Z |
| dc.date.available.none.fl_str_mv |
2020-01-15T19:40:50Z |
| dc.type.none.fl_str_mv |
Artículo |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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info:eu-repo/semantics/article |
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18526233 |
| dc.identifier.uri.spa.fl_str_mv |
10.35407/bag.2019.xxx.02.03 |
| dc.identifier.uri.none.fl_str_mv |
https://hdl.handle.net/20.500.12494/15945 |
| dc.identifier.bibliographicCitation.spa.fl_str_mv |
Rosero C.Y., Mejia L.G., Corredor M. (2019). Tp53 pathogenic variants related to cancer. BAG. Journal of Basic and Applied Genetics, XXX (2), 27-40. Recuperado de: http://hdl.handle.net/20.500.12494/15945 |
| identifier_str_mv |
18526233 10.35407/bag.2019.xxx.02.03 Rosero C.Y., Mejia L.G., Corredor M. (2019). Tp53 pathogenic variants related to cancer. BAG. Journal of Basic and Applied Genetics, XXX (2), 27-40. Recuperado de: http://hdl.handle.net/20.500.12494/15945 |
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https://hdl.handle.net/20.500.12494/15945 |
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https://sag.org.ar/jbag/wp-content/uploads/2019/12/BAG_VXXX_2_2019_ART3_WEB.pdf |
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BAG. Journal of Basic and Applied Genetics |
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Rosero Galindo, Carol YovannaRosero Galindo, Carol YovannaMejía, L.Corredor, M.Vol XXX, No.22020-01-15T19:40:50Z2020-01-15T19:40:50Z2019-12-301852623310.35407/bag.2019.xxx.02.03https://hdl.handle.net/20.500.12494/15945Rosero C.Y., Mejia L.G., Corredor M. (2019). Tp53 pathogenic variants related to cancer. BAG. Journal of Basic and Applied Genetics, XXX (2), 27-40. Recuperado de: http://hdl.handle.net/20.500.12494/15945TP53 o P53 es un gen supresor de tumores conocido como el “guardián del genoma”, encargado de inducir la respuesta de la célula ante el daño del ADN, deteniendo el ciclo celular en caso de mutación, activando enzimas de reparación del ADN, iniciando el proceso de senescencia celular y activación de la apoptosis. Las mutaciones en la secuencia del gen pueden originar mutaciones no sinónimas o errores en el marco de lectura por la inserción, deleción o desplazamiento de nucleótidos: ejemplo, mutación c.358A>G en el exón 4 y variantes que se albergan en los exones 9 y 10 del dominio TD. Por lo tanto en esta revisión examinaremos cambios en el marco de lectura, incluyendo la pérdida de una o dos pares de bases, que podrían impedir la exacta transcripción o cambiar la estructura y función de la proteína o perjudicar completamente la función de reparación. Tales cambios promueven la auto-suficiencia en la señal de crecimiento, la insensibilidad a señales anticrecimiento y la evasión de la apoptosis, lo que resulta en la replicación ilimitada y la inducción de angiogénesis metastásica, generando como consecuencia la proliferación de células tumorales, neoplásicas y linfoides. Teniendo en cuenta la importancia del TP53 en la regulación del ciclo celular, el objetivo de la presente revisión es actualizar la información relacionada con el papel de este gen en el desarrollo de cáncer y la descripción de las variaciones genéticas.TP53 or P53 is a tumor suppressor gene known as the “genome guardian”, responsible for inducing cell response to DNA damage, by stopping the cell cycle in case of mutation, activating DNA repair enzymes, initiating senescence and activation of apoptosis. Mutations in the gene sequence can cause non-synonymous mutations or errors in the reading frame by insertion, deletion or displacement of nucleotides: e.g., c.358A>G mutation in exon 4 and variants located in exons 9 and 10 of the TD domain. Therefore, in this review, we will see that changes in the reading frame, including the loss of one or two base pairs could prevent accurate transcription or changes in the structure and function of the protein, and could completely impair reparation function. These changes promote self-sufficiency in growth signaling, insensitivity to anti-growth signals, and evasion of apoptosis, resulting in limitless replication and induction of metastatic angiogenesis, generating as a consequence the proliferation of tumor, neoplastic, and lymphoid cells. 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Chem. 276: 12120-12127.NeoplasmaFosfoproteína nuclear p53Supresor de tumorMutationClinvarUniprotNeoplasmsnuclear phosphoprotein p53Tumor SuppressormutationClinvarUniprotTP53 Pathogenic variants related to cancerArtículohttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionAtribucióninfo:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2PublicationORIGINALRosero et al_TP53 Pathogenic_2019.pdfRosero et al_TP53 Pathogenic_2019.pdfArtículoapplication/pdf581870https://repository.ucc.edu.co/bitstreams/61b41d78-c409-423d-8b21-c74762add4f0/downloadbc04f0f3c76a05564ff051d97cf541f0MD51LICENSElicense.txtlicense.txttext/plain; charset=utf-84334https://repository.ucc.edu.co/bitstreams/e47fd9c9-ad57-477f-b62a-2c93d41c192f/download3bce4f7ab09dfc588f126e1e36e98a45MD52THUMBNAILRosero et al_TP53 Pathogenic_2019.pdf.jpgRosero et al_TP53 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