CRIS

Permanent URI for this communityhttps://cris.ute.edu.ec/handle/123456789/1

Browse

Search Results

Now showing 1 - 10 of 49

Some of the metrics are blocked by your
consent settings
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia
(Springer Science and Business Media LLC, 2024-10-31)
PAZ Y MIÑO CEPEDA, CESAR ANTONIO
;
Ramón Miguel Vargas-Vera
;
Martha Verónica Placencia-Ibadango
;
Kalid Stefano Vargas-Silva
;
Juan Luis García-Hernández
We present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father–daughter). A cytogenetic study revealed a normal karyotype. The genetic mapping array study identified 0.73 Gb of alterations, 727,087,295 bp involved in regions of homozygosity (ROH) in all chromosomes (25.2% of the genome) and 764,028 bp in gains in chromosomes 9 and 14. Genes from the TGFB, BMP, FGF, SHH and WNT families, among others, were identified in the ROH. They are related to craniofacial development and their protein products showed a strong association in the interactome analysis.
Some of the metrics are blocked by your
consent settings
Understanding Celiac Disease From Genetics to the Future Diagnostic Strategies
(SAGE Publications, 2017-01-01)
Carolina Salazar
;
Jennyfer M García-Cárdenas
;
PAZ Y MIÑO CEPEDA, CESAR ANTONIO
<jats:p> Celiac disease (CD) is an autoimmune disorder characterized by the permanent inflammation of the small bowel, triggered by the ingestion of gluten. It is associated with a number of symptoms, the most common being gastrointestinal. The prevalence of this illness worldwide is 1%. One of the main problems of CD is its difficulty to be diagnosed due to the various presentations of the disease. Besides, in many cases, CD is asymptomatic. Celiac disease is a multifactorial disease, HLA-DQ2 and HLA-DQ8 haplotypes are predisposition factors. Nowadays, molecular markers are being studied as diagnostic tools. In this review, we explore CD from its basic concept, manifestations, types, current and future methods of diagnosis, and associated disorders. Before addressing the therapeutic approaches, we also provide a brief overview of CD genetics and treatment. </jats:p>
Some of the metrics are blocked by your
consent settings
Genotyping the High Altitude Mestizo Ecuadorian Population Affected with Prostate Cancer
(Hindawi Limited, 2017)
Andrés López-Cortés
;
Alejandro Cabrera-Andrade
;
Carolina Salazar-Ruales
;
ZAMBRANO ESPINOSA, ANA KARINA
;
Santiago Guerrero
<jats:p>Prostate cancer (PC) is the second most commonly diagnosed type of cancer in males with 1,114,072 new cases in 2015. The MTHFR enzyme acts in the folate metabolism, which is essential in methylation and synthesis of nucleic acids. MTHFR C677T alters homocysteine levels and folate assimilation associated with DNA damage. Androgens play essential roles in prostate growth. The SRD5A2 enzyme metabolizes testosterone and the V89L polymorphism reduces in vivo SRD5A2 activity. The androgen receptor gene codes for a three-domain protein that contains two polymorphic trinucleotide repeats (CAG, GGC). Therefore, it is essential to know how PC risk is associated with clinical features and polymorphisms in high altitude Ecuadorian mestizo populations. We analyzed 480 healthy and 326 affected men from our three retrospective case-control studies. We found significant association between MTHFR C/T (odds ratio [OR] = 2.2;<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mi>P</mml:mi><mml:mo>=</mml:mo><mml:mn fontstyle="italic">0.009</mml:mn></mml:math>), MTHFR C/T+T/T (OR = 2.22;<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M2"><mml:mi>P</mml:mi><mml:mo>=</mml:mo><mml:mn fontstyle="italic">0.009</mml:mn></mml:math>), and PC. The SRD5A2 A49T substitution was associated with higher pTNM stage (OR = 2.88;<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M3"><mml:mi>P</mml:mi><mml:mo>=</mml:mo><mml:mn fontstyle="italic">0.039</mml:mn></mml:math>) and elevated Gleason grade (OR = 3.15;<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M4"><mml:mi>P</mml:mi><mml:mo>=</mml:mo><mml:mn fontstyle="italic">0.004</mml:mn></mml:math>). Additionally, patients with ≤21 CAG repeats have an increased risk of developing PC (OR = 2.99;<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M5"><mml:mi>P</mml:mi><mml:mo><</mml:mo><mml:mn fontstyle="italic">0.001</mml:mn></mml:math>). In conclusion, genotype polymorphism studies are important to characterize genetic variations in high altitude mestizo populations.</jats:p>
Some of the metrics are blocked by your
consent settings
Ancestry characterization of Ecuador’s Highland mestizo population using autosomal AIM-INDELs
(Elsevier BV, 2017-12)
ZAMBRANO ESPINOSA, ANA KARINA
;
A. Gaviria
;
M. Vela
;
S. Cobos
;
P.E. Leone
Some of the metrics are blocked by your
consent settings
Ancestry study in Ecuadorian population with multiple myeloma
(Ovid Technologies (Wolters Kluwer Health), 2017)
P.E. Leone
;
A. Cabrera-Andrade
;
J.M. García-Cárdenas
;
D.A. González
;
GUEVARA RAMIREZ, ALEXANDRA PATRICIA
Some of the metrics are blocked by your
consent settings
Mutational Analysis of Oncogenic AKT1 Gene Associated with Breast Cancer Risk in the High Altitude Ecuadorian Mestizo Population
(Hindawi Limited, 2018-07-03)
Andrés López-Cortés
;
Paola E. Leone
;
Byron Freire-Paspuel
;
Nathaly Arcos-Villacís
;
GUEVARA RAMIREZ, ALEXANDRA PATRICIA
<jats:p>Breast cancer is the leading cause of cancer-related death among women worldwide. AKT1 encodes the kinase B alpha protein. The rs121434592, rs12881616, rs11555432, rs11555431, rs2494732, and rs3803304 single nucleotide polymorphisms have been identified in the AKT1 kinase gene. Activated AKT1 phosphorylates downstream substrates regulating cell growth, metabolism, apoptosis, angiogenesis, and drug responses. It is essential to know how breast cancer risk is associated with histopathological and immunohistochemical characteristics and genotype polymorphisms in a high altitude Ecuadorian mestizo population. This is a retrospective case-control study. DNA was extracted from 185 healthy and 91 affected women who live 2,800 meters above sea level. Genotypes were determined by genomic sequencing. We found a possible association between the noncoding intronic variant rs3803304 and breast cancer risk development: GG (odds ratio [OR] = 5.2; 95% confidence interval [CI] = 1.3-20.9;<jats:italic> P</jats:italic> ≤ 0.05;<jats:italic> Q</jats:italic> > 0.05). Regarding pathologic characteristics, we found significant risk between estrogen receptor, progesterone receptor, and HER2 status and molecular subtypes (<jats:italic>P</jats:italic> ≤ 0.001;<jats:italic> Q</jats:italic> ≤ 0.05). On the other hand, we did not find risk between variants and histopathological characteristics. Despite the small sample size, we found that the intronic variant, AKT1 rs3803304, may act as a predictive biomarker in the risk of developing breast cancer in the high altitude Ecuadorian mestizo population.</jats:p>
Some of the metrics are blocked by your
consent settings
Consensus strategy in genes prioritization and combined bioinformatics analysis for preeclampsia pathogenesis
(Springer Science and Business Media LLC, 2017-08-08)
Eduardo Tejera
;
Maykel Cruz-Monteagudo
;
Germán Burgos
;
María-Eugenia Sánchez
;
Aminael Sánchez-Rodríguez
Some of the metrics are blocked by your
consent settings
Genetic data for twenty-two autosomal STRs (PowerPlex® Fusion) from Afro-Ecuadorian population
(Elsevier BV, 2017-12)
A. Gaviria
;
M. Vela
;
G. Fiallos
;
C. Gruezo
;
S. Cobos
Some of the metrics are blocked by your
consent settings
Development of a SNaPshot Multiplex system for the typing of single nucleotide polymorphisms (SNPs) involved in the adaptive response to high altitude hypoxia
(Elsevier BV, 2017-12)
G. Burgos
;
M. Ruano
;
M. Badin
;
M. Camargo
;
E. Tejera
Some of the metrics are blocked by your
consent settings
Multiplex PCR in non-human DNA molecular identification of Ascaris spp. in forensic biology
(Elsevier BV, 2017-12)
G. Burgos
;
F. Yanqui-Rivera
;
D. Mollocana
;
M. Camargo
;
S. Zapata

CRIS

Browse

Filters

Settings

Sort By

Results per page

Search Results