GUEVARA RAMÍREZ, ALEXANDRA PATRICIA
Preferred name
GUEVARA RAMÍREZ, ALEXANDRA PATRICIA
Main Affiliation
CIGG - Centro de Investigación Genética y Genómica
Web Site
ORCID
0000-0002-4829-3653
Scopus Author ID
57195725827
75 results
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Item type:Publication, Molecular Mechanisms and Therapeutic Perspectives of Gut Microbiota, Autophagy, and Apoptosis in Cholangiocarcinoma PathophysiologyCholangiocarcinoma (CCA) is an aggressive malignancy of the biliary tract with rising global incidence and limited treatment options. Its pathogenesis involves a complex interplay of genetic mutations, epigenetic dysregulation, inflammatory signaling, and environmental influences. Emerging evidence highlights the pivotal role of the gut–liver axis and microbiota dysbiosis in shaping biliary homeostasis and disease progression. Alterations in microbial composition disrupt apoptosis and autophagy, two key processes regulating cell survival and death, thereby contributing to tumorigenesis, metastasis, and therapy resistance. Specific taxa, including Enterococcus, Escherichia coli, Pseudomonas, Bifidobacterium, and Bacillus, demonstrate strain-dependent effects, acting either as tumor promoters through genotoxic metabolites and immune evasion or as potential tumor suppressors by inducing apoptosis and immune activation. These findings underscore the context-dependent roles of microbiota in CCA biology. Importantly, microbiota modulation offers novel therapeutic opportunities. Dietary interventions such as probiotics, prebiotics, and nutritional strategies, alongside innovative microbiome-targeted therapies, hold promise for restoring microbial balance, enhancing antitumor immunity, and improving patient outcomes. This review integrates current molecular and microbiological evidence to propose the gut microbiota as both a biomarker and a therapeutic target in CCA, opening avenues for precision medicine approaches in hepatobiliary oncologyScopus© Citations 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetics, genomics, and diet interactions in obesity in the Latin American environment(Frontiers Media SA, 2022-12-01); ; ; ; <jats:p>Obesity is a chronic disease characterized by abnormal or excessive fat accumulation that could impact an individual’s health; moreover, the World Health Organization (WHO) has declared obesity a global epidemic since 1997. In Latin America, in 2016, reports indicated that 24.2% of the adult population was obese. The environmental factor or specific behaviors like dietary intake or physical activity have a vital role in the development of a condition like obesity, but the interaction of genes could contribute to that predisposition. Hence, it is vital to understand the relationship between genes and disease. Indeed, genetics in nutrition studies the genetic variations and their effect on dietary response; while genomics in nutrition studies the role of nutrients in gene expression. The present review represents a compendium of the dietary behaviors in the Latin American environment and the interactions of genes with their single nucleotide polymorphisms (SNPs) associated with obesity, including the risk allele frequencies in the Latin American population. Additionally, a bibliographical selection of several studies has been included; these studies examined the impact that dietary patterns in Latin American environments have on the expression of numerous genes involved in obesity-associated metabolic pathways.</jats:p>Scopus© Citations 26 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The Non-Coding rs5945619 Variant at Xp11.22 and Its Putative Regulatory Effects on Nearby Genes in Ecuadorian Mestizo Women with Breast Cancer: A Case Series and In Silico Cis-eQTL Analysis(MDPI AG, 2026-08-07); ; ; ; Ruiz-Pozo, Viviana A. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Identification of mutations on the EMD and EYA4 genes associated with Emery–Dreifuss muscular dystrophy and deafness: a case report(Frontiers Media SA, 2023-05-12); ; ; José Luis Laso-Bayas<jats:sec><jats:title>Introduction</jats:title><jats:p>Hearing loss is the most common sensory disability, and it is estimated that 50% of cases are caused by genetic factors. One of the genes associated with deafness is the eyes absent homolog 4 (<jats:italic>EYA4</jats:italic>) gene, a transcription factor related to the development and function of the inner ear. Emery–Dreifuss muscular dystrophy is a rare inherited disease characterized by atrophy and weakness of the humeroperoneal muscles, multi-joint contractures, and cardiac manifestations. It is inherited in an autosomal-dominant, X-linked, or less frequently autosomal recessive manner; one of the genes associated with EDMD is the emerin (<jats:italic>EMD)</jats:italic> gene.</jats:p></jats:sec><jats:sec><jats:title>Case description</jats:title><jats:p>A total of two Ecuadorian siblings aged 57 (Subject A) and 55 (Subject B) were diagnosed with deafness and an unspecified type of muscular dystrophy based on family history and clinical findings. Next-generation sequencing (NGS) using the TruSight Cardio and Inherited Disease kits at the Centro de Investigación Genética y Genómica CIGG, Universidad UTE, was performed. The genetic analyses showed two mutations: a stop mutation in exon 11/20 (NM_004100.4:c.940G&gt;T) of the <jats:italic>EYA4</jats:italic> gene and a missense mutation in exon 6 (NM_000117.2:c.548C&gt;G) of the <jats:italic>EMD</jats:italic> gene.</jats:p></jats:sec><jats:sec><jats:title>Discussion and conclusion</jats:title><jats:p>The <jats:italic>in silico</jats:italic> predictions described the <jats:italic>EYA4</jats:italic> variant as likely pathogenic and the <jats:italic>EMD</jats:italic> variant as a variant of uncertain significance (VUS). Moreover, an ancestry analysis was performed using 46 Ancestry Informative Insertion/Deletion Markers (AIM-InDels), and the ancestral composition of subject A was 46% African, 26.1% European, and 27.9% American Indian ancestry, whereas the ancestral composition of subject B was 41.3% African, 38.2% European, and 20.5% American Indian ancestry. The present case report describes two Ecuadorian siblings with a mainly African ancestral component, muscular dystrophy, and deafness phenotypes. Moreover, using next-generation sequencing (NGS), a mutation in the <jats:italic>EMD</jats:italic> and a novel mutation in <jats:italic>EYA4</jats:italic> genes possibly associated with the subjects' phenotype were identified and discussed.</jats:p></jats:sec>Scopus© Citations 3 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Ten simple rules for empowering women in STEM(Public Library of Science (PLoS), 2022-12-22); ; ; J. Faustino V-VázquezScopus© Citations 14 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Molecular variants associated with flavor perceptions and ancestral proportions of Ecuadorian populations(Elsevier BV, 2019-12); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report(Springer Science and Business Media LLC, 2020-08-31); ; Santiago Guerrero<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with an estimated 0.38 new cases per 100,000 people per year worldwide. Panel-based next-generation sequencing opens new possibilities for diagnosis and therapy of rare diseases such as this one. Because it has never been genetically studied in the Ecuadorian population, we chose to genetically characterize an Ecuadorian pediatric patient with anaplastic astrocytoma for the first time. Doing so allows us to provide new insights into anaplastic astrocytoma diagnosis and treatment.</jats:p></jats:sec><jats:sec><jats:title>Case presentation</jats:title><jats:p>Our patient was a 13-year-old Mestizo girl with an extensive family history of cancer who was diagnosed with anaplastic astrocytoma. According to ClinVar, SIFT, and PolyPhen, the patient harbored 354 genomic alterations in 100 genes. These variants were mostly implicated in deoxyribonucleic acid (DNA) repair. The top five most altered genes were<jats:italic>FANCD2</jats:italic>,<jats:italic>NF1</jats:italic>,<jats:italic>FANCA</jats:italic>,<jats:italic>FANCI</jats:italic>, and<jats:italic>WRN.</jats:italic>Even though<jats:italic>TP53</jats:italic>presented only five mutations, the rs11540652 single-nucleotide polymorphism classified as pathogenic was found in the patient and her relatives; interestingly, several reports have related it to Li-Fraumeni syndrome. Furthermore,<jats:italic>in silico</jats:italic>analysis using the Open Targets Platform revealed two clinical trials for pediatric anaplastic astrocytoma (studying cabozantinib, ribociclib, and everolimus) and 118 drugs that target the patient’s variants, but the studies were not designed specifically to treat pediatric anaplastic astrocytoma.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Next-generation sequencing allows genomic characterization of rare diseases; for instance, this study unraveled a pathogenic single-nucleotide polymorphism related to Li-Fraumeni syndrome and identified possible new drugs that specifically target the patient’s variants. Molecular tools should be implemented in routine clinical practice for early detection and effective preemptive intervention delivery and treatment.</jats:p></jats:sec>Scopus© Citations 2 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genotoxic and Carcinogenic Potential of Compounds Associated with Electronic Cigarettes: A Systematic Review(Hindawi Limited, 2019-12-23)Scopus© Citations 20 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Genetic diet interactions of ACE: the increased hypertension predisposition in the Latin American population(Frontiers Media SA, 2023-10-26); ; Scopus© Citations 16 - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis(Frontiers Media SA, 2020-10-26)Scopus© Citations 33