A5072391068- Bone health and osteoporosis research
- Vitamin D Research Studies
- Bone health and treatments
- Bone Metabolism and Diseases
- Nutrition, Genetics, and Disease
- MicroRNA in disease regulation
- Medical Imaging and Pathology Studies
- Parathyroid Disorders and Treatments
- Heterotopic Ossification and Related Conditions
- Neurogenetic and Muscular Disorders Research
- Telomeres, Telomerase, and Senescence
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Folate and B Vitamins Research
- Diabetes and associated disorders
- Skin and Cellular Biology Research
- Connective tissue disorders research
- COVID-19 Clinical Research Studies
- Skin Protection and Aging
- Cytomegalovirus and herpesvirus research
- Mitochondrial Function and Pathology
- Genetic Associations and Epidemiology
- Liver Disease Diagnosis and Treatment
- Bone Tumor Diagnosis and Treatments
Instituto Nacional de Rehabilitación
2016-2025
National Institute of Genomic Medicine
2023-2024
Secretaria de Salud
2023
University of Leicester
2012-2016
Hospital Regional de Alta Especialidad del Bajío
2015
University of Oxford
2013
University of Edinburgh
2013
Barts Health NHS Trust
2013
Hospital General de México
2005
Linear chromosomes are stabilized by telomeres, but the presence of short dysfunctional telomeres triggers cellular senescence in human somatic tissues, thus contributing to ageing. Approximately 1% population inherits a chromosomally integrated copy herpesvirus 6 (CI-HHV-6), consequences integration for virus and telomere with insertion unknown. Here we show that on distal end is frequently shortest measured cells not germline. The carrying CI-HHV-6 also prone truncations result formation...
Approximately 10% of all cancers, but a higher proportion sarcomas, use the recombination-based alternative lengthening telomeres (ALT) to maintain telomeres. Two RecQ helicase genes, BLM and WRN , play important roles in homologous recombination repair they have been implicated telomeric activity, their precise ALT are unclear. Using analysis sequence variation present human telomeres, we found that WRN– ALT+ cell line lacks class complex telomere mutations attributed inter-telomeric other...
Background/Objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of from genetic origin, it is caused by mutations on PHEX gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation observed at intrafamily interfamily level. bases for this not fully understood. aim study was to investigate if there a phenotype–genotype correlation in cohort patients with confirmed diagnosis XLH. Methods: We recruited total 130 Mexican...
Abstract Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging. Guidelines recommend targeted sequencing based on characteristics disease. However, literature regarding genotypic and characterization in Mexico limited. We aimed characterize patients with an at our center. Methods Patients exhibiting features consistent high...
Osteoporosis is a skeletal disease mainly affecting women over 50 years old and it represents serious public health problem because of the high socioeconomic burden. This characterized by deterioration bone microarchitecture, low mineral density (BMD), increased risk fragility fractures. study aimed to identify serum useful proteins as biomarkers for diagnosis and/or prognosis osteoporosis fracture risk. We collected 446 samples from postmenopausal aged ≥45 old. Based on BMD measurement, we...
Genome-wide association studies in people with European ancestry suggest that polymorphisms genes involved vitamin D (VD) metabolism have an effect on serum concentrations of 25-hydroxyvitamin D. However, nothing is known about these populations Amerindian ancestry. Our aim was to evaluate the between genetic variants receptor (VDR) and binding protein (GC) genes, VD pathway, deficiency 689 unrelated Mexican postmenopausal women. We also described frequencies 355 women from different ethnic...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vertical transmission has been investigated extensively. Recently, the World Health Organization (WHO) published strict criteria to classify timing of mother-to-child SARS-CoV-2 into different categories. The aim this study was investigate possibility in asymptomatic SARS-CoV-2-positive women.Pregnant women attending for delivery at a perinatology center Mexico City, Mexico, who had nasopharyngeal swab 24-48 h before delivery, were...
During a viral infection, the immune response is mediated by toll-like receptors and myeloid differentiation Factor 88 (MyD88) that play an important role sensing infections such as SARS-CoV-2 which has claimed lives of more than 6.8 million people around world. We carried out cross-sectional with population 618 SARS-CoV-2-positive unvaccinated subjects further classified based on severity: 22% were mild, 34% severe, 26% critical, 18% deceased. Toll Like Receptor 7 (TLR7) single-nucleotide...
Diagnosis of developmental dysplasia the hip (DDH) mostly relies on physical examination and ultrasound, both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports involvement environmental genetic factors, such as single nucleotide variants (SNVs). Incorporating factors into diagnostic would be useful for implementing early management affected individuals. Our aim was analyze SNVs DDH patients. We included 287 cases 284 controls....
Abstract Primary effusion lymphomas (PEL) are associated with human herpesvirus-8 (HHV-8) and usually occur in immunocompromised individuals. However, there numerous reports of HHV-8-unrelated PEL-like unknown aetiology. Here we characterize an lymphoma elderly woman who was negative for immunodeficiency viruses 1 2 hepatitis B C. The was, however, a carrier inherited-chromosomally-integrated herpesvirus-6A (iciHHV-6A) genome one 19q telomere. iciHHV-6A complete blood DNA, encoding full set...
Background: Inconsistent epidemiological evidence between uric acid (UA) and bone mineral density (BMD) has been observed. Therefore, we evaluated the association UA BMD in Mexican adults. Methods: This analysis was conducted on 1423 participants from Health Workers Cohort Study. We explored cross-sectional associations using linear regression longitudinal fixed-effects by sex age groups (<45 ≥45 years). Results: In females <45 years old, showed that levels were positively associated with...
Epidemiological studies suggest a relationship between total 25-hydroxyvitamin D [25(OH)D], adiposity, and metabolic traits. The bioavailability of 25(OH)D is regulated by the albumin, vitamin binding protein (VDBP), variants GC gene. Therefore, it not clear if bioavailable or free offer additional benefits compared to when estimating magnitude these associations. Our aim was evaluate association (total, bioavailable) with adiposity This cross-sectional study 1904 subjects from Health...