Estrada Mena, Francisco Javier
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Estrada Mena, Francisco Javier
Official Name
Estrada Mena, Francisco Javier
Alternative Name
festrada
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ORCID
Scopus Author ID
57192982524
Researcher ID
AAI-2437-2020

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Now showing 1 - 10 of 29
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Significant Association Between Variant in SGCD and Age-Related Macular Degeneration

2018 , Pérez Ortiz, Andric Christopher , Luna-Angulo, Alexandra , Zenteno, Juan Carlos , Rendon, Álvaro , Cortes-Ballinas, Liliana Guadalupe , Jiménez-Collado, David , Antonio-Aguirre, Bani , Peralta-Ildefonso, Martha Janneth , Ramírez, Israel , Jacob-Kuttothara, Stefany , Estrada Mena, Francisco Javier

CFH and HTRA1 genes are traditional markers of increased risk of age-related macular degeneration (AMD) across populations. Recent findings suggest that additional genes-for instance, in the dystrophin-associated protein complex-might be promising markers for AMD. Here, we performed a case-control study to assess the effect of SGCD single nucleotide polymorphisms (SNPs), a member of this protein family, on AMD diagnosis and phenotype. We performed a case-control study of an under-studied population from Hispanics in Mexico City, with 134 cases with 134 unpaired controls. Cases were 60 years or older (Clinical Age-Related Maculopathy Staging (CARMS) grade 4⁻5, as assessed by experienced ophthalmologists following the American Association of Ophthalmology (AAO) guidelines), without other retinal disease or history of vitreous-retinal surgery. Controls were outpatients aged 60 years or older, with no drusen or retinal pigment epithelium (RPE) changes on a fundus exam and a negative family history of AMD. We examined SNPs in the SGCD gene (rs931798, rs140617, rs140616, and rs970476) by sequencing and real-time PCR. Genotyping quality checks and univariate analyses were performed with PLINK v1.90b3.42. Furthermore, logistic regression models were done in SAS v.9.4 and haplotype configurations in R v.3.3.1. After adjusting for clinical covariates, the G/A genotype of the SGCD gene (rs931798) significantly increases the odds of being diagnosed with AMD in 81% of cases (1.81; 95% CI 1.06⁻3.14; p = 0.031), especially the geographic atrophy phenotype (1.82; 95% CI 1.03⁻3.21; p = 0.038) compared to the G/G homozygous genotype. Moreover, the GATT haplotype in this gene (rs931798, rs140617, rs140616, and rs970476) is associated with lower odds of AMD (adjusted odds ratio (OR) 0.13; 95% CI 0.02⁻0.91; p = 0.041). SGCD is a promising gene for AMD research. Further corroboration in other populations is warranted, especially among other Hispanic ethnicities.

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Blood group O alleles in Native Americans: Implications in the peopling of the Americas

2009 , Estrada-Mena, Benito , Estrada Mena, Francisco Javier , Ulloa-Arvizu, Raúl , Guido, Miriam , Méndez, Rocío , Coral, Ramón , Canto, Thelma , Granados, Julio , Rodrigo Rubí-Castellanos , Rangel-Villalobos, Héctor , García-Carrancá, Alejandro

All major ABO blood alleles are found in most populations worldwide, whereas the majority of Native Americans are nearly exclusively in the O group. O allele molecular characterization could aid in elucidating the possible causes of group O predominance in Native American populations. In this work, we studied exon 6 and 7 sequence diversity in 180 O blood group individuals from four different Mesoamerican populations. Additionally, a comparative analysis of genetic diversity and population structure including South American populations was performed. Results revealed no significant differences among Mesoamerican and South American groups, but showed significant differences within population groups attributable to previously detected differences in genetic drift and founder effects throughout the American continent. Interestingly, in all American populations, the same set of haplotypes O1, O1v, and O1v(G542A) was present, suggesting the following: (1) that they constitute the main genetic pool of the founding population of the Americas and (2) that they derive from the same ancestral source, partially supporting the single founding population hypothesis. In addition, the consistent and restricted presence of the G542A mutation in Native Americans compared to worldwide populations allows it to be employed as an Ancestry informative marker (AIM). Present knowledge of the peopling of the Americas allows the prediction of the way in which the G542A mutation could have emerged in Beringia, probably during the differentiation process of Asian lineages that gave rise to the founding population of the continent. Am J Phys Anthropol, 2010. © 2009 Wiley-Liss, Inc.

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Dysregulation of mitochondrial function and biogenesis modulators in adipose tissue of obese children

2017 , Zamora-Mendoza, R. , Rosas-Vargas, H. , Ramos-Cervantes, M. T. , García-Zúñiga, P. , Pérez-Lorenzana, H. , Mendoza-Lorenzo, Patricia , Pérez Ortiz, Andric Christopher , Miliar-García, A. , Lara-Padilla, E. , Estrada Mena, Francisco Javier , Ceballos, Guillermo , Rodríguez, Alonso , Villarreal, Francisco J. , Ramírez-Sánchez, Israel

Background/Objectives: We aimed to evaluate mitochondrial biogenesis (MB), structure, metabolism and dysfunction in abdominal adipose tissue from male pediatric patients with obesity. Subjects/Methods: Samples were collected from five children with obesity (percentile ⩾95) and five eutrophic boys (percentile ⩾5/⩽85) (8–12 years old) following parental informed consent. We analyzed the expression of key genes involved in MB (sirtuin-1 (SIRT1), peroxisome proliferator-activated receptor-γ (PPARγ), PPARγ coactivator-1α (PGC1α), nuclear respiratory factors 1 and 2 (NRF1, NRF2) and mitochondrial transcription factor A (TFAM) and surrogates for mitochondrial function/structure/metabolism (porin, TOMM20, complex I and V, UCP1, UCP2, SIRT3, SOD2) by western blot. Citrate synthase (CS), complex I (CI) activity, adenosine triphosphate (ATP) levels, mitochondrial DNA (mtDNA) content and oxidative stress end points were also determined.

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Mejoras en el diagnóstico de distrofinopatías: ¿qué hemos aprendido después de 20 años?

2011 , López Hernández, Luz Berenice , Ayala Madrigal, María de la Luz , Heusden, Dave van , Estrada Mena, Francisco Javier , Canto Cetina, Ileana Patricia , Sandoval Ramírez, Lucila , Gómez Díaz, Benjamín , Coral Vázquez, Ramón Mauricio

Introducción: Las distrofinopatías son trastornos genéticos ligados al cromosoma X causados por mutaciones en el gen DMD. Las pruebas genéticas son de suma importancia para la gestión y el asesoramiento genético de estas enfermedades. Sin embargo, la complejidad del gen DMD es un desafío para el diagnóstico. Objetivo: Describir los avances recientes en el diagnóstico de distrofinopatías, después de 20 años de los primeros ensayos moleculares para la detección genética de estas enfermedades. Desarrollo: En la actualidad, se han desarrollado una variedad de estrategias, como la detección de mutaciones automatizada, los métodos basados en células y la haplotipificación de alto rendimiento, para facilitar el diagnóstico de distrofinopatías, la detección de portadoras, el diagnóstico prenatal y preimplantacional. ©Viguera Editores

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A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient

2010 , García-Delgado, C. , Bahena-Martínez, E. , Aparicio-Onofre, A. , Guevara-Yañez, R. , Cervantes-Peredo, A. , Azotla-Vilchis, O. C. , Estrada Mena, Francisco Javier , Luna-Angulo, Alexandra , Villa-Morales, J. , Morrán-Barroso, V. F.

The concurrence of a reciprocal translocation and an aneuploidy represent a rare coincidence and an interchromosome effect between these two events has been suggested. We report the case of a family with a t(1;15) in three generations which was identified through the evaluation ofa patient with classical trisomy 21 or Down syndrome. The cytogenetic analysis with GTG banding showed that the proband had a regular trisomy 21 and a balanced translocation t(1;15). FISH and microsatellite analysis were carried out in the family in order to discard an interchromosomal effect. The implications for genetic assessment are discussed. © Genetic Counseling

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Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins

2024 , Alexandra Luna-Angulo , Carlos Landa-Solís , Rosa Elena Escobar-Cedillo , Estrada Mena, Francisco Javier , Laura Sánchez-Chapul , Benjamín Gómez-Díaz , Paul Carrillo-Mora , Hamlet Avilés-Arnaut , Livier Jiménez-Hernández , Dulce Adeí Jiménez-Hernández , Antonio Miranda-Duarte

Muscular dystrophies (MDs) are a heterogeneous group of diseases of genetic origin characterized by progressive skeletal muscle degeneration and weakness. There are several types of MDs, varying in terms of age of onset, severity, and pattern of the affected muscles. However, all of them worsen over time, and many patients will eventually lose their ability to walk. In addition to skeletal muscle effects, patients with MDs may present cardiac and respiratory disorders, generating complications that could lead to death. Interdisciplinary management is required to improve the surveillance and quality of life of patients with an MD. At present, pharmacological therapy is only available for Duchene muscular dystrophy (DMD)—the most common type of MD—and is mainly based on the use of corticosteroids. Other MDs caused by alterations in dystrophin-associated proteins (DAPs) are less frequent but represent an important group within these diseases. Pharmacological alternatives with clinical potential in patients with MDs and other proteins associated with dystrophin have been scarcely explored. This review focuses on drugs and molecules that have shown beneficial effects, mainly in experimental models involving alterations in DAPs. The mechanisms associated with the effects leading to promising results regarding the recovery or maintenance of muscle strength and reduction in fibrosis in the less-common MDs (i.e., with respect to DMD) are explored, and other therapeutic targets that could contribute to maintaining the homeostasis of muscle fibers, involving different pathways, such as calcium regulation, hypertrophy, and maintenance of satellite cell function, are also examined. It is possible that some of the drugs explored here could be used to affordably improve the muscular function of patients until a definitive treatment for MDs is developed.

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Effects of (−)-epicatechin on frontal cortex DAPC and dysbindin of the mdx mice

2017 , Estrada Mena, Francisco Javier , Rodríguez, Alonso , Mendoza-Lorenzo, Patricia , Neri-Gómez, Teresa , Manjarrez-Gutiérrez, Gabriel , Pérez Ortiz, Andric Christopher , Ordonez-Razo, Rosa , Ceballos, Guillermo , Villarreal, Francisco , Ramírez-Sánchez, Israel

Introduction: Multiple components of the dystrophin-associated protein complex (DAPC) are expressed in numerous tissues including the brain. Members of the DAPC and dysbindin are abnormally expressed in the brain of Duchenne Muscular Dystrophy (DMD) patients, which has been associated with cognitive impairments. However, little is known about the expression pattern of individual members of the DAPC in animal models of DMD and their relationship with dysbindin. Methods: Ten mdx mice were randomly allocated into a control and intervention group [(−)-epicatechin (Epi) 1 mg/kg/day for four weeks] and results compared to a wild-type mice. After sacrifice, brain pre-frontal cortices were collected for Western blotting and immunoprecipitation assays, and sagittal sections processed for immunohistochemistry.

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Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches

2020 , Martínez Velasco, Antonieta Teodora , Pérez Ortiz, Andric Christopher , Antonio-Aguirre, Bani , Martinez-Villaseñor, Lourdes , Palacio-Pastrana, Claudia , Lira, Esmeralda , Zenteno, Juan Carlos , Ramírez-Sánchez, Israel , Zepeda-Palacio, Claudia , Mendoza Vera, Cristina Azucena , Camacho-Ordóñez, Azyadeh , Ortiz Bibriesca, Daniela , Estrada Mena, Francisco Javier

CFH: and HTRA1 are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (SNPs) among Hispanics from Mexico. Materials and methods: 122 cases and 249 controls were genotyped using Taqman probes. Experienced ophthalmologists diagnosed AMD following the American Association of Ophthalmology guidelines. We studied CFH (rs1329428, rs203687) and HTRA1 (rs11200638) SNPs thoroughly by logistic regression models (assuming different modes of inheritance) and machine learning-based methods (ML). HTRA1: rs11200638 is the most significant polymorphism associated with AMD in our studied population. In a multivariate regression model adjusted for clinically and statistically meaningful covariates, the A/G and A/A genotypes increased the odds of disease by a factor of 2.32 and 7.81, respectively (P < .05) suggesting a multiplicative effect of the polymorphic A allele. Furthermore, this observation remains statistically meaningful in the allelic, dominant, and recessive models, and ML algorithms. When stratifying by phenotype, this polymorphism was significantly associated with increased odds for geographic atrophy (GA) in a recessive mode of inheritance (12.4, p < .05). Conclusions: In sum, this work supports a strong association between HTRA1 genetic variants and AMD in Hispanics from Mexico, especially with GA. Moreover, ML was able to replicate the results of conventional biostatistics methods unbiasedly. © 2020 Taylor & Francis Group, LLC.

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Development of muscle atrophy and loss of function in a Gulf-War illness model: underlying mechanisms

2020 , Ramírez-Sánchez, Israel , Navarrete-Yañez, Viridiana , Garate-Carrillo, Alejandra , Loredo Mendoza, María Lilia , Lira, Esmeralda , Campeau, Anaamika , Estrada Mena, Francisco Javier , González, David , Carrillo-Terrazas, Marvic , Moreno-Ulloa, Aldo , Guillermo Ceballos , Villarreal, Francisco J.

Gulf War illness (GWI) afflicts military personnel who served during the Persian Gulf War and is notable for cognitive deficits, depression, muscle pain, weakness, intolerance to exercise, and fatigue. Suspect causal agents include the chemicals pyridostigmine (PB), permetrim (PM) and N,N-diethyl-m-toluamide (DEET) used as protectants against insects and nerve gases. No pre-clinical studies have explored the effects on skeletal muscle (SkM). Young male rats were provided PB, PM and DEET at equivalent human doses and physical restraint (to induce stress) for 3 weeks followed a 3-week recovery. GWI gastrocnemius weight was ~ 35% lower versus controls, which correlated with decreases in myofiber area, limb strength, and treadmill time/distance. In GWI rats, SkM fiber type relative abundance changed towards slow type I. Muscle wasting pathway proteins were upregulated while those that promote growth decreased as did mitochondrial endpoints and muscle ATP levels. Proteomic analysis of SkM also documented unique alterations in mitochondrial and metabolic pathways. Thus, exposure to GWI chemicals/stress adversely impacts key metabolic pathways leading to muscle atrophy and loss of function. These changes may account for GWI Veterans symptoms.

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nef/long terminal repeat quasispecies from HIV type 1-infected Mexican patients with different progression patterns and their pathogenesis in hu-PBL-SCID mice

2000 , Gómez-Román, Víctor Raúl , Vásquez, Joel A. , Basualdo, Maria Del Carmen , Estrada Mena, Francisco Javier , Ramos Kuri, Manuel , Soler, Carmen

To examine the genetic features of the long terminal repeat (LTR) derived from six HIV-1-infected individuals enrolled in the Mexico City Cohort, we cloned and sequenced a 505-bp fragment of the proviral LTR from their peripheral blood mononuclear cells (PBMCs). All patients harbored HIV-1 LTR quasispecies corresponding to the B subtype. Three patients with high CD4+ T cell counts (>500/mm3) presented LTR sequences with point mutations in the TAR bulge. The LTR sequence from a patient classified as a long-term nonprogressor (LTNP) presented the most frequent naturally occurring length polymorphism (MFNLP) and two substitutions in the TAR region that were predicted to result in two alternative secondary RNA structures. A novel 18-bp deletion, which eliminates part of the putative binding site for the nuclear factor of activated T cells (NFAT-1), was identified in the overlapping nef/LTR sequence derived from a patient progressing to AIDS. This deletion coincides with the ability of this virus to consistently replicate at low levels in vivo (viral load <500 RNA copies/ml) and in vitro (unsuccessful virus isolation). On one occasion, when virus isolation was successful, the 18-bp deletion was no longer evident and LTR sequences with intact NFAT-1-binding sites were observed. Inoculation of hu-PBL-SCID mice with viruses from several Mexican patients resulted in differential CD4+ T cell depletion patterns 15 days postinfection, which agree with the in vivo CD4+ T cell count data from each patient. © AIDS Research and Human Retroviruses

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