Estandarización del análisis de metilación cuantitativa de los promotores en TOR1A y THAP1 e identificación de la variante D216H como causa de penetrancia incompleta en distonía genética.

Alitzel Rodríguez-Gutiérrez; Beatriz Sánchez-Hernández; Alberto Ortega-Vázquez; Marisol López-López; Nancy Monroy-Jaramillo; Miguel Ángel Ramírez-García

Standardization of the quantitative methylation of TOR1A and THAP1 promoters and identification of the D216H variant as causes of incomplete penetrance in genetic dystonia.

Authors

Alitzel Rodríguez-Gutiérrez Departamento de Sistemas Biológicos, Universidad Autónoma Metropolitana-Unidad Xochimilco https://orcid.org/0009-0005-4527-9791
Beatriz Sánchez-Hernández Departamento de Patología, Instituto Nacional de Ciencias Médicas y de la Nutrición, Salvador Zubirán https://orcid.org/0000-0003-1255-0117
Alberto Ortega-Vázquez Departamento de Sistemas Biológicos, Universidad Autónoma Metropolitana-Unidad Xochimilco https://orcid.org/0000-0003-2803-9444
Marisol López-López Departamento de Sistemas Biológicos, Universidad Autónoma Metropolitana-Unidad Xochimilco. https://orcid.org/0000-0002-3954-8052
Nancy Monroy-Jaramillo Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía, Manuel Velasco Suárez https://orcid.org/0000-0003-2611-0972
Miguel Ángel Ramírez-García Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía, Manuel Velasco Suárez https://orcid.org/0000-0003-3221-3636

Keywords:

Dytonia, incomplete penetrance, TOR1A gene, THAP1 gene, quantitative methylation

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Published

2024-04-23

How to Cite

Rodríguez-Gutiérrez, A., Sánchez-Hernández, B., Ortega-Vázquez, A., López-López, M., Monroy-Jaramillo, N., & Ramírez-García, M. Ángel. (2024). Standardization of the quantitative methylation of TOR1A and THAP1 promoters and identification of the D216H variant as causes of incomplete penetrance in genetic dystonia . Archivos De Neurociencias, 29(S1). Retrieved from https://archivosdeneurociencias.org/index.php/ADN/article/view/514

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Issue

Vol. 29 No. S1 (2024): Annual Research Meeting from the National Institute of Neurology and Neurosurgery Manuel Velasco Suárez

Section

Conference proceedings

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September 2022-present © Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. Open access articles under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. No commercial re-use is allowed.

January-September 2022 © The authors. Open access articles under the terms of the Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. No commercial re-use is allowed.

January 2014-December 2021 © Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez. Open access articles under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) license, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.