Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism
Q1
- Autores:
-
Gutiérrez-Prieto, Sandra J.
Torres-López, Diana María
García Robayo, Dabeiba Adriana
Rey-Cubillos, Jorge A.
Gomez, Mariluz
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/63839
- Acceso en línea:
- https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-1726162
http://hdl.handle.net/10554/63839
https://doi.org/10.1055/s-0041-1726162
- Palabra clave:
- Noggin gene
Mandibular micrognathism
Methylation
Bone morphogenic proteins
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism |
| title |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism |
| spellingShingle |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism Noggin gene Mandibular micrognathism Methylation Bone morphogenic proteins |
| title_short |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism |
| title_full |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism |
| title_fullStr |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism |
| title_full_unstemmed |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism |
| title_sort |
Clinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism |
| dc.creator.fl_str_mv |
Gutiérrez-Prieto, Sandra J. Torres-López, Diana María García Robayo, Dabeiba Adriana Rey-Cubillos, Jorge A. Gomez, Mariluz |
| dc.contributor.author.none.fl_str_mv |
Gutiérrez-Prieto, Sandra J. Torres-López, Diana María García Robayo, Dabeiba Adriana Rey-Cubillos, Jorge A. Gomez, Mariluz |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Torres-López, Diana María |
| dc.subject.keyword.spa.fl_str_mv |
Noggin gene Mandibular micrognathism Methylation Bone morphogenic proteins |
| topic |
Noggin gene Mandibular micrognathism Methylation Bone morphogenic proteins |
| description |
Q1 |
| publishDate |
2021 |
| dc.date.created.none.fl_str_mv |
2021-09-30 |
| dc.date.accessioned.none.fl_str_mv |
2023-03-17T13:41:37Z |
| dc.date.available.none.fl_str_mv |
2023-03-17T13:41:37Z |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/resource_type/c_6501 |
| dc.identifier.spa.fl_str_mv |
https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-1726162 |
| dc.identifier.issn.spa.fl_str_mv |
1305-7456 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/63839 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1055/s-0041-1726162 |
| dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
| url |
https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-1726162 http://hdl.handle.net/10554/63839 https://doi.org/10.1055/s-0041-1726162 |
| identifier_str_mv |
1305-7456 instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
746 |
| dc.relation.citationendpage.spa.fl_str_mv |
754 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
European Journal of Dentistry |
| dc.relation.citationvolume.spa.fl_str_mv |
15 |
| dc.relation.citationissue.spa.fl_str_mv |
4 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
| dc.format.mimetype.spa.fl_str_mv |
application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| dc.coverage.city.spa.fl_str_mv |
Bogotá (Colombia) |
| institution |
Pontificia Universidad Javeriana |
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Repositorio Institucional - Pontificia Universidad Javeriana |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Gutiérrez-Prieto, Sandra J.Torres-López, Diana MaríaGarcía Robayo, Dabeiba AdrianaRey-Cubillos, Jorge A.Gomez, MariluzPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaTorres-López, Diana MaríaColombiaBogotá (Colombia)2023-03-17T13:41:37Z2023-03-17T13:41:37Z2021-09-30https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0041-17261621305-7456http://hdl.handle.net/10554/63839https://doi.org/10.1055/s-0041-1726162instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengClinical and Molecular Study of the NOG Gene in Families with Mandibular MicrognathismArtículo de revistahttp://purl.org/coar/resource_type/c_6501Q1Pacientes con Micrognatismo mandibularObjectives: Previous studies showed that noggin gene (NOG) sequence alterations, as well as epigenetic factors, could influence mandibular development. The aim of this study was to analyze clinical characteristics, NOG gene sequences, and promoter methylation sites in patients with mandibular micrognathism. Materials and Methods: A total of 35 individuals of five Colombian families were subject to clinical and cephalometric analysis for mandibular micrognathism. One nonaffected individual of each family was included as a control. DNA was isolated from whole blood sample from all individuals by salting out method. Nine NOG gene fragments were amplified by polymerase chain reaction (PCR) and sequenced. Identification of CpG islands for methylation analysis at the NOG gene promoter was performed by MSP-PCR kit (Qiagen R). Statistical Analysis: A descriptive statistical analysis was carried out evaluating the presence or absence of genetics variants and the methylation sites in the NOG gene. Results: NOG sequence results of affected individuals with mandibular micrognathism for one of the families studied demonstrated that they were heterozygous for 672 C/A (new mutation). For a second family, individuals were heterozygous for 567 G/C (single nucleotide polymorphism [SNP] RS116716909). For DNA analyzed from all patients studied, no methylations were observed at the NOG gene promoter region. Conclusion: Our results suggested that 672 C/A and 567 G/C variants could be involved in the presence of mandibular micrognathism. Moreover, lack of methylation sites at the NOG gene promoter region of all individuals studied suggests possibly other epigenetic factors could modulate mandibular growth. The search of genetic variants related with mandibular micrognathism will allow to predict in an integral way the development patterns of the patients and therefore establish a better clinical treatment.https://orcid.org/0000-0002-2112-2563https://orcid.org/0000-0002-9879-9775https://orcid.org/0000-0003-0770-9138https://orcid.org/0000-0003-2527-3593Revista Internacional - IndexadaA2NoNoggin geneMandibular micrognathismMethylationBone morphogenic proteins746754European Journal of Dentistry154ORIGINALClinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism.pdfClinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism.pdfapplication/pdf1992062http://repository.javeriana.edu.co/bitstream/10554/63839/1/Clinical%20and%20Molecular%20Study%20of%20the%20NOG%20Gene%20in%20Families%20with%20Mandibular%20Micrognathism.pdf2ce16afbf10bbf2784c6a9640b4a8b73MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/63839/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILClinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism.pdf.jpgClinical and Molecular Study of the NOG Gene in Families with Mandibular Micrognathism.pdf.jpgIM Thumbnailimage/jpeg11796http://repository.javeriana.edu.co/bitstream/10554/63839/3/Clinical%20and%20Molecular%20Study%20of%20the%20NOG%20Gene%20in%20Families%20with%20Mandibular%20Micrognathism.pdf.jpg508a876bae3912df12b0271c77f4dc60MD53open access10554/63839oai:repository.javeriana.edu.co:10554/638392023-03-18 03:04:41.915Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |