Estrada Mena, Francisco Javier

Main Affiliation

Facultad de Ciencias de la Salud - CampCM

Preferred name

Official Name

Estrada Mena, Francisco Javier

ORCID

0000-0002-0833-3630

Researcher ID

AAI-2437-2020

Scopus Author ID

57192982524

Now showing 1 - 10 of 32

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Novel genome-wide associations for age-related macular degeneration in the sarcoglycan-sarcospan protein complex
(2020)
Asaf Calderon, Andrea Michelle
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Dewan, Andrew
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Ramírez, Israel
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Zepeda-Palacio, Claudia
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Palacio, Claudia
Purpose : Since the advent of genomic approaches, many chromosomal regions and polymorphisms have been associated with age-related macular degeneration (AMD). However, most of the disease variability might not be still captured by current researched genetic markers due to power issues. We have evidence that at least one component of the sarcoglycan-sarcospan protein complex (Sg-Sspn) gene is associated with increased odds of geographic atrophy (GA) AMD. Moreover, the retina of the knocked-out mouse model for the Sg-Sspn phenotypically resembles GA. Here, we aimed to explore the genome-wide association of the Sg-Sspn complex gene regions with AMD.
19 2
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Altered calcium pump and secondary deficiency of γ-sarcoglycan and microspan in sarcoplasmic reticulum membranes isolated from δ-sarcoglycan knockout mice
(2010)
Solares-Pérez, Alhondra
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Álvarez, Rocío
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Crosbie, Rachelle H.
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Vega-Moreno, Jesús
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Medina-Monares, Joel
Sarcoglycans (SGs) and sarcospan (SSPN) are transmembrane proteins of the dystrophin-glycoprotein complex. Mutations in the genes encoding SGs cause many inherited forms of muscular dystrophy. In this study, using purified membranes of wild-type (WT) and δ-SG knockout (KO) mice, we found the specific localization of the SG-SSPN isoforms in transverse tubules (TT) and sarcoplasmic reticulum (SR) membranes. Immunoblotting revealed that the absence of δ-SG isoforms in TT and SR results in a secondary deficiency of γ-SG and μSPN. Our results showed augmented ATP hydrolytic activity, ATP-dependent calcium uptake and passive calcium efflux, probably through SERCA1 in KO compared to WT mice. Furthermore, we found a conformational change in SERCA1 isolated from KO muscle as demonstrated by calorimetric analysis. Following these alterations with mechanical properties, we found an increase in force in KO muscle with the same rate of fatigue but with a decreased fatigue recovery compared to WT. Together our observations suggest, for the first time, that the δ-SG isoforms may stabilize the expression of γ-SG and μSPN in the TT and SR membranes and that this possible complex may play a role in the maintenance of a stable level of resting cytosolic calcium concentration in skeletal muscle.
Scopus© Citations 11 11 1
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A new de novo mutation in a non-hot spot region at the DMD gene in a Mexican family
(2015)
Luna-Angulo, A. B.
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Gómez-Díaz, B.
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Escobar-Cedillo, R. E.
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Anaya-Segura, M. A.
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Estrada Mena, Francisco Javier
In this report we present the analysis of a sporadic case of DMD and his family. In the present case, a deletion of exons 18-47 is presented which predicts abolition of the reading frame and is located between the well-known deletion hot spots of the DMD gene. This mutation was not previously reported in the Leiden database (LOVD). Both MLPA and segregation analysis with short tandem repeat markers elucidated the status of the mother, sister and the younger brother of the proband, who were not carriers of the mutation. This case provides a description of a new pathogenic variant presented as de novo mutation in a DMD patient. Haplotype analysis and complete gene screening may improve genetic counseling in cases of germline mosaicism and de novo mutations.
6 1
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Brief inflammatory profile after femtosecond laser-assisted pretreatment in nuclear cataract surgery
(2020)
Palacio, Claudia
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Antonio-Aguirre, Bani
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Mendoza Velásquez, Cristina
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Camacho-Ordóñez, Azyadeh
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Estrada Mena, Francisco Javier
Purpose : Femtosecond laser-assisted cataract surgery (FLACS) is an FDA-approved treatment with increasing popularity. So far, there are no studies assessing the inflammatory response to FLACS corneal incision, anterior capsulorhexis, and nuclear fragmentation before phacoemulsification in patients exclusively diagnosed with nuclear cataracts. Here, we measured key inflammatory markers in the aqueous humor of patients exposed to femtosecond laser pretreatment. Methods : We performed a cross-sectional study of 67 patients diagnosed with nuclear cataract (LOCS III NO3) undergoing surgery. Of those, 34 were exposed to femtosecond laser pretreatment. At the beginning of the surgery, we collected aqueous humor samples under sterile conditions through a side-port incision. Samples were collected 8 minutes after laser treatment. We measured PgE2 by competitive ELISA, IL-1 β, and IL-6 through cytometric bead arrays. We performed bivariate and stratified analysis in SAS v.9.4. ©Investigative Ophthalmology & Visual Science
33 1
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Lack of Delta-Sarcoglycan (Sgcd) Results in Retinal Degeneration
(2019)
Peralta-Ildefonso, Martha Janneth
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Lira, Esmeralda
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Ramírez-Sánchez, Israel
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Brieva, Jorge
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Moya-Albor, Ernesto
Age-related macular degeneration (AMD) is the leading cause of central vision loss and severe blindness among the elderly population. Recently, we reported on the association of the SGCD gene (encoding for δ-sarcoglycan) polymorphisms with AMD. However, the functional consequence of Sgcd alterations in retinal degeneration is not known. Herein, we characterized changes in the retina of the Sgcd knocked-out mouse (KO, Sgcd−/−). At baseline, we analyzed the retina structure of three-month-old wild-type (WT, Sgcd+/+) and Sgcd−/− mice by hematoxylin and eosin (H&E) staining, assessed the Sgcd-protein complex (α-, β-, γ-, and ε-sarcoglycan, and sarcospan) by immunofluorescence (IF) and Western blot (WB), and performed electroretinography. Compared to the WT, Sgcd−/− mice are five times more likely to have retinal ruptures. Additionally, all the retinal layers are significantly thinner, more so in the inner plexiform layer (IPL). In addition, the number of nuclei in the KO versus the WT is ever so slightly increased. WT mice express Sgcd-protein partners in specific retinal layers, and as expected, KO mice have decreased or no protein expression, with a significant increase in the α subunit. At three months of age, there were no significant differences in the scotopic electroretinographic responses, regarding both a- and b-waves. According to our data, Sgcd−/− has a phenotype that is compatible with retinal degeneration. © 2019 by the authors. Licensee MDPI, Basel, Switzerland.
Scopus© Citations 5 30 2
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FMR1 CGG repeat distribution and linked microsatellite-SNP haplotypes in normal Mexican Mestizo and indigenous populations
(2006)
Felix-López, Xóchitl Adriana
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Argüello-García, Raúl
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Cerda-Flores, Ricardo M.
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Peñaloza-Espinoza, Rosenda I.
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Buentello-Malo, Leonor
The (CGG)n repeat size distribution in the FMR1 gene was studied in healthy individuals: 80 X chromosomes of Mexican Mestizos from Mexico City and 33 X chromosomes of Mexican Amerindians from three indigenous communities (Purepechas, Nahuas, and Tzeltales), along with alleles and haplotypes defined by two microsatellite polymorphic markers (DXS548 and FRAXAC1) and two single nucleotide polymorphisms (FMRA and FMRB). Genetic frequencies of Mestizo and Amerindian subpopulations were statistically similar in almost all cases and thus were considered one population for comparisons with other populations. Sixteen (CGG)n alleles in the 17–38 size range were observed, and the most common were the 25 (38.0%), 26 (28.3%), and 24 (12.3%) repeat alleles. This pattern differs from most other populations reported, but a closer relation to Amerindian, European, and African populations was found, as expected from the historical admixture that gave rise to Mexican Mestizos. The results of the CA repeats analysis at DXS548-FRAXAC1 were restricted to nine haplotypes, of which haplotypes 7-4 (52.2%), 8-4 (23.8%), and 7-3 (11.5%) were predominant. The modal haplotype 7-4, instead of the nearly universal haplotype 7-3, had been reported exclusively in Eastern Asian populations. Likewise, only seven different FRAXAC1-FMRA-FMRB haplotypes were observed, including five novel haplotypes (3TA, 4TA, 3-A, 4A, and 5A), compared with Caucasians. Of these, haplotypes -A (78.7%) and 3-A (13.2%) were the most common in the Mexican population. These data suggest a singular but relatively low genetic diversity at FMR1 in the studied Mexican populations that may be related to the recent origin of Mestizos and the low admixture rate of Amerindians.
13 2
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Machine learning method to establish the connection between age related macular degeneration and some genetic variations
(2016)
Martínez Velasco, Antonieta Teodora
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Zenteno, Juan Carlos
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Martinez-Villaseñor, Lourdes
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Miralles-Pechuán, Luis
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Estrada Mena, Francisco Javier
Medicine research based in machine learning methods allows the improvement of diagnosis in complex diseases. Age related Macular Degeneration (AMD) is one of them. AMD is the leading cause of blindness in the world. It causes the 8.7% of blind people. A set of case and controls study could be developed by machine-learning methods to find the relation between Single Nucleotide Polymorphisms (SNPs) SNP_A, SNP_B, SNP_C and AMD. In this paper we present a machine-learning based analysis to determine the relation of three single nucleotide SNPs and the AMD disease. The SNPs SNP_B, SNP_C remained in the top four relevant features with ophthalmologic surgeries and bilateral cataract. We aim also to determine the best set of features for the classification process. © Springer International Publishing AG 2016.
Scopus© Citations 1 56 2
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Influence of GST polymorphisms in the age of onset of cataract: Systematic review and meta-analysis
(2020)
Antonio-Aguirre, Bani
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Palacio Pastrana, Claudia
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Mendoza Velásquez, Cristina
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Camacho-Ordóñez, Azyadeh
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Zepeda-Palacio, Claudia
Purpose : Cataracts are a clinically heterogeneous disorder affecting up to 12% of the population aged 40 years and older. Multiple environmental and genetic factors influence disease susceptibility. Glutathione S-transferase (GST) genes deletion might be involved in cataractogenesis, through impaired conjugation of reduced glutathione. Excessive ROS could promote earlier lens opacification. To date, no systematic studies have assessed the effect of GST polymorphisms and age of onset of cataracts. Here, we aim to evaluate the association between GST polymorphisms, found through a systematic review, on cataracts age of presentation by meta-analysis. Methods : We conducted a systematic search in MEDLINE, HuGENET, and LILACS databases. We included observational studies that determined genotype based on validated genotyping instruments and with a stringent quality check (e.g., genotyping call rate ≥ 95%, HWE in controls). We abstracted counts of null alleles of GSTM1 and GSTT1 in cases and controls. We performed a meta-analysis of these measurements using random and fixed effects models, subgrouping by age of diagnosis. ©Investigative Ophthalmology & Visual Science
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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
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Antonio-Aguirre, Bani
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Martinez-Villaseñor, Lourdes
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Palacio-Pastrana, Claudia
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Lira, Esmeralda
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.
Scopus© Citations 2 51 1
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The Relevance of Cataract as a Risk Factor for Age-Related Macular Degeneration: A Machine Learning Approach
(2019)
Miralles-Pechuán, Luis
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Zenteno, Juan Carlos
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Martínez Velasco, Antonieta Teodora
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Martinez-Villaseñor, Lourdes
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Pérez Ortiz, Andric Christopher
Age-related macular degeneration (AMD) is the leading cause of visual dysfunction and irreversible blindness in developed countries and a rising cause in underdeveloped countries. There is a current debate on whether or not cataracts are significant risk factors for AMD development. In particular, research regarding this association is so far inconclusive. For this reason, we aimed to employ here a machine-learning approach to analyze the relevance and importance of cataracts as a risk factor for AMD in a large cohort of Hispanics from Mexico. We conducted a nested case control study of 119 cataract cases and 137 healthy unmatched controls focusing on clinical data from electronic medical records. Additionally, we studied two single nucleotide polymorphisms in the CFH gene previously associated with the disease in various populations as positive control for our method. We next determined the most relevant variables and found the bivariate association between cataracts and AMD. Later, we used supervised machine-learning methods to replicate these findings without bias. To improve the interpretability, we detected the five most relevant features and displayed them using a bar graph and a rule-based tree. Our findings suggest that bilateral cataracts are not a significant risk factor for AMD development among Hispanics from Mexico. © 2019 by the authors.
Scopus© Citations 1 49 1

Estrada Mena, Francisco Javier

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