A5029845773- Congenital Heart Disease Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital Anomalies and Fetal Surgery
- Congenital heart defects research
- Urological Disorders and Treatments
- Prenatal Screening and Diagnostics
- Cancer-related Molecular Pathways
- Mosquito-borne diseases and control
- Congenital Diaphragmatic Hernia Studies
- Tracheal and airway disorders
- BRCA gene mutations in cancer
- Folate and B Vitamins Research
- Sperm and Testicular Function
- Wnt/β-catenin signaling in development and cancer
- Hedgehog Signaling Pathway Studies
- Hearing, Cochlea, Tinnitus, Genetics
- Urologic and reproductive health conditions
- Cancer, Hypoxia, and Metabolism
- Parvovirus B19 Infection Studies
- Connective tissue disorders research
- Protein Tyrosine Phosphatases
- Molecular Biology Techniques and Applications
- Viral Infections and Vectors
- Pediatric Hepatobiliary Diseases and Treatments
- Autophagy in Disease and Therapy
Universidad Autónoma de Nuevo León
2012-2022
Hospital Universitario Dr José Eleuterio Gonzalez
2014-2022
Pathogenic variants (PVs) of BRCA genes entail a lifetime risk developing breast cancer in 50-85% carriers. Their prevalence different populations has been previously reported. However, there is scarce information regarding the most common PVs these Latin-Americans. This study identified BRCA1 and BRCA2 PV frequency high-risk female population from Northeastern Mexico determined association mutations with patients' clinical pathological characteristics.Women were divided into three groups:...
Background: DNA methylation is the best epigenetic mechanism for explaining interactions between nutrients and genes involved in intrauterine growth development programming. A possible contributor of abnormalities to congenital heart disease folate regulatory pathway; however, mechanisms patterns VSD-associated are not fully understood. Objective: To determine if maternal dietary intake folic acid (FA) related status (MS) (AXIN1, MTHFR, TBX1, TBX20). Methods: Prospective case–control study;...
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder presenting with poikiloderma and other clinical features, affecting the bones eyes and, in type II RTS, an increased risk for malignancy. With about 300 cases reported so far, we present 13-year follow-up including images, X-rays genetic analysis. A 13-month-old female started facial rash blisters on her cheeks limbs at age of 3 months along congenital hypoplastic thumbs, frontal bossing fine hair, eyebrows eyelashes. The...
We investigated whether likely pathogenic variants co-segregating with gastroschisis through a family-based approach using bioinformatic analyses were implicated in body wall closure. Gene Ontology (GO)/Panther functional enrichment and protein-protein interaction analysis by String identified several biological networks of highly connected genes UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, UGT1A10, AOX1, NOTCH1, HIST1H2BB, RPS3, THBS1, ADCY9, FGFR4. SVS–PhoRank dominant model...
Abstract Background Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in from noninvestigated heritable factors could provide new insights into the human biology this birth defect. We aim to identify novel susceptibility variants by employing whole exome sequencing (WES) a Mexican family with recurrence of gastroschisis. Methods employed WES two affected half‐sisters gastroschisis, mother, and father proband. Additionally,...
Abstract Aarskog–Scott syndrome ( AAS ), also known as faciogenital dysplasia FGD , OMIM # 305400), is an X‐linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, urogenital abnormalities. caused mutations in the 1 gene (Xp11.22), with over 56 different identified to date. We present clinical molecular analysis four unrelated families Mexican origin phenotype, whom sequencing was performed. This two stop not previously reported literature: p.Gln664*...
The microenvironment plays a fundamental role in carcinogenesis: Acidity and hypoxia are actively involved this process. It is important to have vitro models study these mechanisms. that most commonly referred the chamber chemical induction [Cobalt (II) chloride]. not yet defined if interchangeable metabolic effect same, results may be compared models. In present study, response of stress (hypoxia acidity) both was evaluated. indicated model, appeared an early form at 6 h; whereas gas slow...
Abstract Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy. A distinctive characteristic of KS oligozoospermia. Despite multiple studies that have described natural history degenerative process germ cells in patients with KS, molecular mechanisms initiate this are not well characterized. MicroRNA (miRNA)-mediated post-transcriptional control been increasingly recognized as important regulators spermatogenesis; however, only a few evaluated role miRNAs gonadal failure...
In this study, we examined the doses of stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper screening sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes assess method as neonatal strategy.This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, ≥18 years), four patients known...
BACKGROUND:Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails teeth. In addition, 60% of cases present congenital heart defects. Ellis-van predominantly caused mutations in the EVC or EVC2 (4p16) genes, with only a few WDR35. CASE REPORT:Here, we report on two Mexican families patients diagnosed syndrome. Family 1 includes four patients:...
(1) Background: The interaction between single nucleotide variants (SNVs) associated with congenital heart diseases (CHDs) and their gene methylation status has not been well researched. aim of the present study was to determine if there is a relationship methy lation (MS) genes allelic CHDs. (2) Methods: Seven SNVs AXIN1, TBX1, TBX20, MTHFR were selected from literature. DNA extraction, genotyping, analysis performed on healthy subjects (3) Results: Twenty-two CHDs as case group (15...
Background: Congenital heart defects (CHDs) are the most common type of birth and a major cause infant mortality. Although knowledge genetic risk variants for CHDs is scarce, cases considered to be due multifactorial inheritance. Objective: To analyze association 14 single nucleotide polymorphic previously associated with in Mexican population isolated CHDs. Materials Methods: DNA samples obtained from healthy subjects atrial, ventricular, or atrioventricular septal living Northeastern...
Las arbovirosis son transmitidas a los humanos mediante artrópodos vectores; por ejemplo: dengue y chikungunya. Existe evidencia que infecciones virus pueden modificar epigenéticamente al huésped facilitando su ciclo de vida. La identificación tales interacciones puede proporcionar información sobre la base mecánica las con estrategias investigación avanzadas destinadas abordar actual falta soluciones para intervención terapia. El objetivo fue evaluar manera in vitro modulación distintos...
Aims: To explore the feasibility of detecting sex chromosome aneuploidies (SCAs) by means gene copy number quantification short stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY in newborns. Materials Methods: Gene doses SHOX, VAMP7, were determined quantitative polymerase chain reaction (qPCR) using DNA obtained from dried blood samples Relative values obtained. An aneuploidy profile was established according to cutoff values. Samples with ≥2 (out range)...
Individuals who suffer from spinal muscular atrophy (SMA) exhibit progressive muscle weakness that frequently results in mortality the most severe forms of disease. In 98% cases, there is a homozygous deletion survival motor neuron 1 (SMN1) gene, and both parents carry same heterozygous genetic abnormality majority cases. Various population studies have been conducted to estimate frequency carriers thereby identify communities or countries which children are at high risk being affected by...
Emerging and re-emerging vector-borne infections are a global public health threat. In endemic regions, fever is the main reason for medical attention, etiological agent of such not usually identified. this study, non-specific febrile pathogens were molecularly characterized in serum samples from 253 patients suspected arbovirus infection. The collected southern border region Mexico April to June 2015, February March 2016. ZIKV, CHIKV, DENV, leptospirosis, rickettsiosis detected by qPCR...
aspecto genético es básico a