A5065521676- Forensic and Genetic Research
- Molecular Biology Techniques and Applications
- Genetic diversity and population structure
- Race, Genetics, and Society
- High Altitude and Hypoxia
- Genetic Associations and Epidemiology
- Comparative constitutional jurisprudence studies
- World Trade Organization Law
- Pregnancy and preeclampsia studies
- Comparative International Legal Studies
- Forensic Anthropology and Bioarchaeology Studies
- Global Financial Crisis and Policies
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Legal processes and jurisprudence
- Bacillus and Francisella bacterial research
- Neuroscience of respiration and sleep
- Identification and Quantification in Food
- Environmental DNA in Biodiversity Studies
- Neonatal Health and Biochemistry
- Fiscal Policy and Economic Growth
- Human Rights and Development
- Amphibian and Reptile Biology
- International Labor and Employment Law
- Genomics and Phylogenetic Studies
- Chromosomal and Genetic Variations
Universidad de Las Américas
2015-2024
Universidade de Santiago de Compostela
2021-2024
University of the Americas
2023
Universidad Nacional de Colombia
1994-2017
Universidad Externado de Colombia
2006-2016
Centro Regional de Derechos Humanos y Justicia de Género, Corporación Humanas
2016
Gobierno de Navarra
2016
Facultad Latinoamericana de Ciencias Sociales
2016
European Union
2016
Universidad de Antioquia
2015
The reference values for lung function are associated to anatomical and morphology parameters, but anthropometry it is not the only influencing factor: altitude genetics two important agents affecting respiratory physiology. Altitude its influence on has been studied independently of genetics, considering early long-term acclimatization.
The European and African contribution to the pre-existing Native American background has influenced complex genetic pool of Colombia. Because colonisation was not homogeneous in this country, current populations are, therefore, expected have different proportions American, ancestral contributions. aim work examine 11 urban admixed a group, called Pastos, for 32 X chromosome indel markers expand knowledge concerning results revealed highly diverse comprising all populations, harbouring...
Preeclampsia is a multifactorial disease with unknown pathogenesis. Even when recent studies explored this using several bioinformatics tools, the main objective was not directed to Additionally, consensus prioritization proved be highly efficient in recognition of genes-disease association. However, information available about ability early recognize genes directly involved Therefore our aim study apply theoretical approaches explore preeclampsia; specifically those We firstly evaluated...
Introduction: Human adaptation to high altitude is due characteristic adjustments at every physiological level. Differences in lipid profile and cardiovascular risk factors dwellers have been previously explored. Nevertheless, there are no reports available on genotype-controlled matches among different altitude-adapted indigenous populations. Objective: To explore the possible differences plasma autochthonous Kiwcha people inhabitants of low high-altitude locations. Methodology: A...
Y‐chromosomal haplogroups and the Y‐SNPs defining them are relevant for exploration of male lineages, inference paternal ancestry, reconstruction migration pathways, to name a few. Currently, over 300,000 have been reported, 20 main haplogroups. However, ascertainment bias in investigations has led some being overlooked, which hinders representative depiction certain populations their events. For pattern analyses first settlers Americas, Native American founding lineage Q‐M3 needs be further...
Dihydropyrimidine dehydrogenase is one of the main pharmacological metabolizers fluoropyrimidines, a group drugs widely used in clinical oncology. Around 20 to 30% patients treated with fluoropyrimidines experience severe toxicity caused by partial or total decrease enzymatic activity. This due molecular variants DPYD gene. Their prevalence and allelic frequencies vary considerably worldwide, so their description heterogeneous groups such as Ecuadorian population will allow for...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is an emerging virus that, since March 2020, has been responsible for a global and ongoing pandemic. Its rapid spread over the past nearly 3 years caused novel variants to arise. To monitor circulation emergence of SARS-CoV-2 variants, surveillance systems based on nucleotide mutations are required. In this regard, we searched in spike, ORF8, nucleocapsid genes detect variable sites among variants. We describe polymorphic genetic...
Abstract Objectives According to demographic history, Ecuador has experienced shifts in its Native American populations caused by European colonization and the African slave trade. The continuous admixture events among Europeans, Americans, Africans occurred differently each region of country, producing a stratified population. Thus, aim this study was investigate level genetic substructure Ecuadorian Mestizo Materials methods A total 377 male 209 female samples were genotyped for two sets...
Congenital adrenal hyperplasia (CAH) is a group of rare orphan disorders caused by mutations in seven different enzymes that impair cortisol biosynthesis. The 17α-hydroxylase deficiency (17OHD) one the less common forms CAH, corresponding to approximately 1% cases, with an estimated annual incidence 1 50,000 newborns. Cases description - two phenotypically female Ecuadorian sisters, both primary amenorrhea, absence secondary sexual characteristics, and osteoporosis. High blood pressure was...
Objective Lactase persistence (LP) is an adaptive trait that certain human populations have acquired in response to lactose consumption adulthood. The T-13910 variant has been reported as a causal polymorphism Europeans. Ecuadorian population described multicultural and multiethnic, comprised of three main ethnic groups (Mestizo, Native Amerindian, Afro-Ecuadorian). aim the study was identify molecular basis LP these admixed for first time determine association between marker European...
Y haplogroups, defined by Y-SNPs, allow the reconstruction of human chromosome genealogy, which is important for population, evolutionary and forensic genetics. In this study, Y-SNPs were typed haplogroups inferred with MPS Ion AmpliSeq™ HID Y-SNP Research Panel v1, as a high-throughput approach. Firstly, performance panel was evaluated different DNA input amounts, reagent volumes cycle numbers. DNA-inputs from 0.5 to 1 ng generated most balanced read depth. Combined full 19 cycles, offered...
Thiopurine S-methyltransferase (TPMT) is an enzyme that metabolizes purine analogs, agents used in the treatment of acute lymphoblastic leukemia. Improper drug metabolism leads to toxicity chemotherapy patients and reduces effectiveness. TPMT variants associated with reduced enzymatic activity vary across populations. Therefore, studying these heterogeneous populations, such as Ecuadorians, can help identify molecular causes deficiency for this enzyme.We sequenced entire coding region 550...