Estrada Mena, Francisco Javier

Preferred name

Official Name

Estrada Mena, Francisco Javier

Alternative Name

festrada

Main Affiliation

ORCID

0000-0002-0833-3630

Scopus Author ID

57192982524

Researcher ID

AAI-2437-2020

Now showing 1 - 10 of 31

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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.
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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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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.
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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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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
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Machine learning method to establish the connection between age related macular degeneration and some genetic variations
(2016)
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Zenteno, Juan Carlos
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Miralles-Pechuán, Luis
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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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Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins
(2024)
Alexandra Luna-Angulo
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Carlos Landa-Solís
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Rosa Elena Escobar-Cedillo
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Laura Sánchez-Chapul
<jats:p>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.</jats:p>
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Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches
(2020)
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Antonio-Aguirre, Bani
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Palacio-Pastrana, Claudia
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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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Nuclear density analysis in microscopic images for the characterization of retinal geographic atrophy
(2020)
Peralta Ildefonso, Martha Janneth
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Coral-Vázquez, Ramón
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in industrialized countries. It is estimated that AMD affects at least 1 in 10 Hispanics. Previous reports have shown that AMD has multiple risk factors. Recently, we demonstrated that some genetic variants in the SGCD gene are involved in AMD developments, especially in early-stage (geographic atrophy, GA). Therefore, to evaluate the relationship between SGCD's absence and the loss of photoreceptors in GA, we worked with a genetically modified mouse model, SGCD deficient (Sgcd-/-) and a control mouse C57BL/6J (Sgcd+/+). First, we obtained hematoxylin and eosin (H&E) retina staining microscopic images. Then, we coarsely selected the outer and inner nuclear retinal layer (ONL and INL respectively) and finally, we applied an automatic nuclei segmentation to calculate the nuclear density in each region. Our results showed that Sgcd absence does not result in photoreceptor loss, on the contrary, it promotes an increment in nuclear density by 8.7% in ONL and 20.1% in INL compared with control eyes (p = 0.0033 and p < 0.0001 respectively). This could be explained by the fact that SGCD codifies the delta-sarcoglycan protein and there is evidence that showed a relationship between the absence of this protein with the activation of a cell proliferation signaling pathway. Finally, our results show that the delta-sarcoglycan protein could play an important role in the pathogenesis of the geographic atrophy. Moreover, there are promising perspectives for the systematic approach applied for cell image analysis, as an important tool to determine the nuclear density for assessing the progression of AMD. ©COPYRIGHT SPIE. Downloading of the abstract is permitted for personal use only.
Scopus© Citations 1 22 1
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Evaluation of a Proteomics-Guided Protein Signature for Breast Cancer Detection in Breast Tissue
(2024)
Aldo Moreno-Ulloa
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Vareska L. Zárate-Córdova
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Israel Ramírez-Sánchez
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Juan Carlos Cruz-López
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Andric C Perez-ortiz
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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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Pharmacogenetics of response to neoadjuvant paclitaxel treatment for locally advanced breast cancer
(2017)
Ramírez, Israel
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Cruz-López, Juan C.
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Villarreal-Garza, Cynthia
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Luna-Angulo, Alexandra
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Locally advanced breast cancer (LABC) cases have a varying five-year survival rate, mainly influenced by the tumor response to chemotherapy. Paclitaxel activity (response rate) varies across populations from 21.5% to 84%. There are some reports on genetic traits and paclitaxel; however, there is still considerable residual unexplained variability. In this study, we aimed to test the association between eleven novel markers and tumor response to paclitaxel and to explore if any of them influenced tumor protein expression. We studied a cohort of 140 women with LABC. At baseline, we collected a blood sample (for genotyping), fine needle aspirates (for Western blot), and tumor measurements by imaging. After follow-up, we ascertained the response to paclitaxel monotherapy by comparing the percent change in the pre-, post- tumor measurements after treatment. To allocate exposure, we genotyped eleven SNPs with TaqMan probes on RT-PCR and regressed them to tumor response using linear modeling. In addition, we compared protein expression, between breast tumors and healthy controls, of those genes whose genetic markers were significantly associated with tumor response. After adjusting for multiple clinical covariates, SNPs on the LPHN2, ROBO1, SNTG1, and GRIK1 genes were significant independent predictors of poor tumor response (tumor growth) despite paclitaxel treatment. Moreover, proteins encoded by those genes are significantly downregulated in breast tumor samples.
Scopus© Citations 8 29 2

Estrada Mena, Francisco Javier

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