Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Benilde García‐de Teresa"'
Autor:
Benilde García-de Teresa, Cecilia Ayala-Zambrano, Mirna González-Suárez, Bertha Molina, Leda Torres, Alfredo Rodríguez, Sara Frías
Publikováno v:
PLoS ONE, Vol 19, Iss 5, p e0298032 (2024)
The FA/BRCA pathway safeguards DNA replication by repairing interstrand crosslinks (ICL) and maintaining replication fork stability. Chromatin structure, which is in part regulated by histones posttranslational modifications (PTMs), has a role in mai
Externí odkaz:
https://doaj.org/article/4057846f40924129aa6fd79c96e95f03
Autor:
Moises Fiesco-Roa, Andrea Venegas-Andrade, María del Mar Sáez de Ocariz Gutiérrez, Sonia Toussaint-Caire, Armando Hernández Rodas, Gilberto Gómez Garza, Magdalena Ortiz Sandoval, Elia Ixel Apodaca Chávez, Leda Torres, Pedro Reyes, Ulises Juárez, Angélica Solis, Bertha Molina, Alfredo Rodríguez, Sara Frías, Benilde García-de Teresa
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101088- (2024)
Externí odkaz:
https://doaj.org/article/da7abe671f5c4362b97326e448a03c7c
Autor:
Leda Torres, Pedro Reyes, Benilde García-de Teresa, María Teresa Villarreal Molina, Ulises Juárez, Angélica Solis, Moises Fiesco-Roa, Fernando Pérez Villatoro, Bertha Molina, Alfredo Rodríguez, Alessandra Carnevale, Sara Frías
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101564- (2024)
Externí odkaz:
https://doaj.org/article/812ed95c8673480fb911c62bcbf97dca
Autor:
Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a m
Externí odkaz:
https://doaj.org/article/c847b296c71c481ba9d3a93f5e694b3a
Autor:
Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Paula Leal-Anaya, Renée van ‘t Hek, Talia Wegman-Ostrosky, Sara Frías, Alfredo Rodríguez
Publikováno v:
Frontiers in Oncology, Vol 12 (2022)
Inherited bone marrow failure syndromes (IBMFS) are a complex and heterogeneous group of genetic diseases. To date, at least 13 IBMFS have been characterized. Their pathophysiology is associated with germline pathogenic variants in genes that affect
Externí odkaz:
https://doaj.org/article/2620a72be81d4a5085767315eca4c14a
Autor:
Emiy Yokoyama, Victoria Del Castillo, Silvia Sánchez, Sandra Ramos, Bertha Molina, Leda Torres, María José Navarro, Silvia Avila, José Luis Castrillo, Benilde García-De Teresa, Bárbara Asch, Sara Frías
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400–500-band karyotyping is the first-line ch
Externí odkaz:
https://doaj.org/article/633deac9ac8f412eb0eb452668a05e78
Autor:
Benilde García‐de Teresa, Sara Frias, Bertha Molina, María Teresa Villarreal, Alfredo Rodriguez, Alessandra Carnevale, Gerardo López‐Hernández, Lilia Vollbrechtshausen, Alberto Olaya‐Vargas, Leda Torres
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background Fanconi anemia (FA) (OMIM #227650) is a rare hereditary disease characterized by genomic instability. The clinical phenotype involves malformations, bone marrow failure, and cancer predisposition. Genetic heterogeneity is a remark
Externí odkaz:
https://doaj.org/article/46ea93e8662542388c92df49b79162f5
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 324-328 (2014)
Phenylketonuria (PKU) is an autosomic recessive inborn errors of metabolism. It is caused y the deficiency of phenylalanine hydroxylase, an enzyme encoded by the PAH gene in 12q22. This gene has a wide mutation spectrum and several different genotype
Externí odkaz:
https://doaj.org/article/d0dc455aaf6c4b0ba321008536c91484
Autor:
Pedro Reyes, Benilde García-de Teresa, Ulises Juárez, Fernando Pérez-Villatoro, Moisés O. Fiesco-Roa, Alfredo Rodríguez, Bertha Molina, María Teresa Villarreal-Molina, Jorge Meléndez-Zajgla, Alessandra Carnevale, Leda Torres, Sara Frias
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 4; Pages: 2334
Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway to maintain genome stability. PV in FANCA, FANCC, and FANCG account for most
Autor:
Joel S. Greenberger, Hector Mayani, Benilde García-de Teresa, Larissa A. Sambel, Tin Phan, Alan D. D'Andrea, Alfredo E. Rodriguez, Angélica Monsivais Orozco, Michael W. Epperly, Anniina Färkkilä, Kalindi Parmar, Martha Velázquez, Markus Grompe, Jessica Filiatrault, Özge Vargel Bölükbaşı, Elissa Furutani, Patricia Flores-Guzmán, Akiko Shimamura, Sara Frías, Silvia Sánchez, Chunyu Yang
Publikováno v:
Exp Hematol
Fanconi anemia (FA) is a chromosome instability syndrome with congenital abnormalities, cancer predisposition and bone marrow failure (BMF). Although hematopoietic stem and progenitor cell (HSPC) transplantation is the recommended therapy, new therap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf327dbf771f160bd25d3f9ff44270ee
http://hdl.handle.net/10138/339083
http://hdl.handle.net/10138/339083