A5025125781- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Congenital Ear and Nasal Anomalies
- Biochemical and Molecular Research
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Parasites and Host Interactions
- Congenital limb and hand anomalies
- Reproductive Biology and Fertility
- Genetic factors in colorectal cancer
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Viral Infectious Diseases and Gene Expression in Insects
- Sexual Differentiation and Disorders
- Reproductive System and Pregnancy
- Cancer-related molecular mechanisms research
- Tracheal and airway disorders
- Craniofacial Disorders and Treatments
- Cystic Fibrosis Research Advances
- Biomedical Research and Pathophysiology
- Glycogen Storage Diseases and Myoclonus
- Studies on Chitinases and Chitosanases
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Folate and B Vitamins Research
Mexican Social Security Institute
2016-2025
Centro de Epilepsia y Neurocirugía Funcional
2025
Universidad Latinoamericana
2024
Secretaría de Salud de Jalisco
2006-2020
GTx (United States)
2015
Universidad Autónoma de Coahuila
2003-2006
National Institute on Aging
2005
Universidad de Guadalajara
2004-2005
Genetic control of female sex differentiation from a bipotential gonad in mammals is poorly understood. We find that mouse XX gonads lacking the forkhead transcription factor Foxl2 form meiotic prophase oocytes, but then activate genetic program for somatic testis determination. Pivotal action thus represses male gene pathway at several stages gonadal differentiation. This suggests possible continued involvement sex-determining genes maintaining ovarian function throughout reproductive life.
Abstract Background Partial loss of function the transcription factor FOXL2 leads to premature ovarian failure in women. In animal models, Foxl2 is required for maintenance, and possibly induction, female sex determination independently other critical genes, e.g., Rspo1 . Here we report expression profiling mouse ovaries that lack alone or combination with Wnt4 Kit / c-Kit Results Following loss, early testis genes (including Inhbb, Dhh , Sox9 ) several novel were consistently dysregulated...
<h3>Background/aims</h3> Microphthalmia-anophthalmia-coloboma (MAC) are congenital eye malformations causing a significant percentage of visually impairments in children. Although these anomalies can arise from prenatal exposure to teratogens, mutations well-defined genes originate potentially heritable forms MAC. Mutations such as <i>CHX10</i>, <i>GDF6</i>, <i>RAX</i>, <i>SOX2</i> and <i>OTX2</i>, among others, have been recognised dominant or recessive <i>OTX2</i> the two most commonly...
Abstract Snyder–Robinson syndrome (SRS, OMIM 309583) is a rare X‐linked characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3–p22.12, G‐to‐A transition at point +5 of intron 4 spermine synthase gene, which caused truncation SMS protein loss enzyme activity, was identified in original family. Here we describe another family with two Mexican brothers novel mutation (c.496T>G) exon 5...
Background/Objectives: Colorectal cancer (CRC) is the second leading cause of death worldwide. Variants in genes that regulate processes such as apoptosis and angiogenesis play a significant role CRC. The objective this study to investigate possible association between RASSF1 (rs2073498), SERPINE1 (rs1799889), EFNA1 (rs12904), RAD51 (rs1801320) variants clinicopathological characteristics Mexican patients with Methods: DNA peripheral blood samples was obtained from 631 individuals (349 282...
Background: Breast cancer (BC) is the most common among women worldwide, with incidence and mortality rates varying across ethnic groups due to sociodemographic, clinicopathological, genomic differences. This study aimed characterize landscape of BC in diverse using computational tools explore these variations. Methodology: cBioPortal was used analyze genomic, sociodemographic data from 1084 samples. Mutated genes were classified based on GeneCards platform data. Enrichment analysis...
Abstract We describe for the first time high‐resolution profiling of HLA‐A, ‐B, ‐C, ‐DRB1, ‐DQB1 and ‐DPB1 in a culturally geographically distinct Mexican ethnic group, Tarahumaras. The alleles most frequently found by reference strand‐mediated conformational analysis this population were class I: HLA‐A*240201, *020101/09, *0206, *310102, *680102; HLA‐B*4002, *1501, *510201, *3501/02/03, *4005, *4801; HLA‐Cw*0304, *0801, *0102, *040101; II: HLA‐DRB1*080201, *1402, *040701; HLA‐DQB1*0402,...
The cystathionine beta synthase (CBS) gene plays an important role in homocysteine metabolism because it catalyzes the first step of transsulfuration pathway, during which is converted to cystathionine. Polymorphisms CBS have been associated with cancer.We examined 844ins68 polymorphism by comparing genotypes 371 healthy Mexican women 323 breast cancer (BC).The observed genotype frequencies for controls and BC patients were 1% 2% Ins/Ins, 13% 26% W/Ins, 86% 72% W/W, respectively. We found...
Idiopathic recurrent pregnancy loss (IRPL) is defined by three or more consecutive miscarriages occurring before the twentieth week of gestation as a result unidentified etiological factors.The results previous studies have indicated that prothrombotic factors play pathogenic role in early and late pregnancy.This study aimed to identify inherited hypofibrinolytic risk
The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) studies Latin American populations to benefit from the implementation personalized medicine. Since 2006, it has studied ethnicity apply pharmacogenetics knowledge in autochthonous America, considering ancestral meeting 'Pharmacogenetics: ethnicity, Treatment Health Populations' was held Mexico City, Mexico, presented relevance RIBEF collaboration with researchers governments Spain Autonomous Community Extremadura....
Purpose The frequency of primary congenital glaucoma (PCG)-causing CYP1B1 mutations varies importantly among distinct populations, ranging from 20% in Indonesians and Japanese to about 100% the Saudi Arabians Slovakian Gypsies. Thus, molecular characterization large groups PCG different ethnic backgrounds is important establish actual contribution specific populations. In this work, analysis gene a group Mexican patients reported. Material Methods Thirty unrelated fulfilling clinical...
The association of anophthalmia, arrhinia, and hypogonadism constitutes the major clinical features for Bosma arrhinia microphthalmia syndrome. However, there is variability in presentation this disease; most constant feature, which then combined with a spectrum anophthalmia/microphthalmia and/or hypogonadism. This rare entity not associated any specific genes, but genes that are related to anophthalmia have been studied an attempt explain phenomenon. We analyzed PAX6 gene syndrome patient...
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases only one female case have been reported. This paper describes the second compares clinical radiological findings between patients.
Introduction: GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema hematological anomalies and an increased risk for myelodysplasia leukemia.Objective: To describe a family incomplete penetrance.Methods: A DNA sequencing gene was performed in parents offspring (five individuals total).Results: The consisted 5 null mutation (c.130G>T, p.Glu44*); three them were affected (two deceased) while two remained unaffected...
Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate validate recommendations best practices for assessment, care, integrated coordination AM. modified method involving 3 rounds online surveys used. An independent administrator 2 nonvoting physician co-chairs managed survey development, anonymous data collection, analysis. multidisciplinary comprising 20 physicians from 12...