A5006584078- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Hereditary Neurological Disorders
- Forensic and Genetic Research
- Genetic diversity and population structure
- Chromosomal and Genetic Variations
- Artificial Intelligence in Healthcare and Education
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- Genetics, Aging, and Longevity in Model Organisms
- RNA and protein synthesis mechanisms
- Inflammasome and immune disorders
- RNA Research and Splicing
- Telomeres, Telomerase, and Senescence
- Cancer, Hypoxia, and Metabolism
- Child Nutrition and Feeding Issues
- Epigenetics and DNA Methylation
- Cystic Fibrosis Research Advances
- COVID-19 Clinical Research Studies
- Race, Genetics, and Society
- Child Nutrition and Water Access
University of Lübeck
2021-2024
Kiel University
2022-2024
University Hospital Schleswig-Holstein
2022-2024
Universidad UTE
2018-2020
Abstract The history of Ecuador was marked by the arrival Europeans with Africans, resulting in mixture Native Americans Africans and Europeans. present study contributes to knowledge Ecuadorian mestizo population offering information about ancestry ethnic heterogeneity. Forty-six AIM-InDels (Ancestry Informative Insertion/Deletion Markers) were used obtain on 240 individuals from three regions (Amazonia, Highlands, Coast). As a result, involved significant contribution (values up 51%),...
Background Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought result from gene dosage effects of NR0B1 ( DAX1 ), but exact disease mechanism remains unknown. Methods Patients with GD were analysed by whole genome sequencing. Identified structural variants confirmed array CGH and high-throughput chromosome conformation capture (Hi-C). Results We identified two unrelated patients: one showing a complex rearrangement upstream second...
Objective We aimed to elucidate the pathogenic mechanisms underlying autosomal dominant adult‐onset demyelinating leukodystrophy (ADLD), and understand genotype/phenotype correlation of structural variants (SVs) in LMNB1 locus. Background Since discovery 3D genome architectures topologically associating domains (TADs), new pathomechanisms have been postulated for SVs, regardless gene dosage changes. ADLD is a rare genetic disease associated with duplications (classical ADLD) or noncoding...
Scientific data recording and reporting systems are of a great interest for endorsing reproducibility transparency practices among the scientific community. Current research generates large datasets that can no longer be documented using paper lab notebooks (PLNs). In this regard, electronic laboratory (ELNs) could promising solution to replace PLNs promote transparency. We previously analyzed five ELNs performed two survey-based studies implement an ELN in biomedical institute. Among...
Breast cancer (BC) is the leading cause of cancer-associated death among women worldwide. Despite treatment efforts, advanced BC with distant organ metastases considered incurable. A better understanding molecular processes therefore great interest to identify new therapeutic targets. Although large-scale such as The Cancer Genome Atlas (TCGA), have completely redefined drug development, diagnosis, and treatment, additional key aspects tumor biology remain be discovered. In that respect,...
X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and alters splicing XDP patient-derived cells. As consequence, increased levels retention transcript TAF1-32i can be found cells compared to healthy controls. Here, we investigate sequence deep intronic region included this show it also present from...
Many primary-tumor subregions exhibit low levels of molecular oxygen and restricted access to nutrients due poor vascularization in the tissue, phenomenon known as hypoxia. Hypoxic tumors are able regulate expression certain genes signaling molecules microenvironment that shift it towards a more aggressive phenotype. The transcriptional landscape tumor favors malignant transformation neighboring cells their migration distant sites. Herein, we focused on identifying key proteins participate...
Acute myeloid leukemia (AML) is characterized by complex molecular alterations and driver mutations. Elderly patients show increased frequencies of IDH mutations with high chemoresistance relapse rates despite recent therapeutic advances. Besides being associated global promoter hypermethylation, IDH1 mutation facilitated changes in 3D DNA-conformation CTCF-anchor methylation upregulated oncogene expression glioma, correlating poor prognosis. Here, we investigated the role p.R132H altering...
Abstract Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by pain, inability sweat and intellectual disability. CIPA caused mutations in the neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1 ) that encodes high-affinity of nerve growth factor (NGF). Case presentation Here, we present clinical molecular findings a 9-year-old girl CIPA. The high-altitude indigenous Ecuadorian patient presented several...
Background: It is imperative to identify drugs that allow treating symptoms of severe COVID-19. Respiratory failure the main cause death in COVID-19 patients, and host inflammatory response at lungs remains poorly understood. Methods: Therefore, we retrieved data from post-mortem patients performed in-depth silico analyses single-nucleus RNA sequencing data, protein interactome network, shortest pathways physiological phenotypes reveal potential therapeutic targets advanced-stage clinical...
Telomere maintenance mechanisms (TMM) are used by cancer cells to avoid apoptosis, 85–90% reactivate telomerase, while 10–15% use the alternative lengthening of telomeres (ALT). Due anti-telomerase-based treatments, some tumors switch from a telomerase-dependent mechanism ALT; in fact, co-existence between both has been observed cancers. Although different elements ALT pathway uncovered, molecular still poorly understood. Therefore, with aim identify potential markers for study ALT, we...
ABSTRACT Many primary-tumor subregions have low levels of molecular oxygen, termed hypoxia. Hypoxic tumors are at elevated risk for local failure and distant metastasis. Metastatic disease is the leading cause cancer-related deaths involves critical interactions between tumor cells microenvironment. Here we focused on elucidating hallmarks hypoxia that remains poorly defined. To fill this gap, analyzed genomic alterations score 233 hypoxia-related genes 6,343 individuals across 17 TCGA...
Abstract Background Turner syndrome is a genetic disorder that affects women. It caused by an absent or incomplete X chromosome, which can be presented in mosaicism not. There are 12 cases of patients who present structural alterations autosomal chromosomes. Case presentation The case report describes patient with reciprocal, maternally inherited translocation between chromosomes 2 and monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through mapping arrays, altered genes the...
Abstract Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial digital anomalies. We report a 2-year-old Ecuadorian girl with syndrome. Although her phenotype shares characteristics Noonan syndrome, Giemsa trypsin banding technique shows there an extra chromosomal segment on 14, array analysis that it belongs duplication 38 Mb 9p13.1p24.3. Fluorescence situ...
Abstract Background Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, individuals across a wide range ages. Hence, the present study wants contribute knowledge type frequency alterations polymorphisms Ecuador. Methods Cytogenetic registers from different Ecuadorian provinces have been merged analyzed construct an open‐access national registry chromosome polymorphisms....
The incidence of cystic fibrosis (CF) and the frequency variants reported for CFTR depend on population; furthermore, CF symptomatology is characterized by obstructive lung disease pancreatic insufficiency among other symptoms, which are reliant individual's genotype. Ecuadorian population a mixture Native Americans, Europeans, Africans. That admixture could be reason new mutations in previous study Ruiz et al. (2019). A panel 46 Ancestry Informative Markers was used to estimate ancestral...
Abstract Purpose Short-read genome sequencing (GS) is a comprehensive genetic testing method capable of detecting multiple variant types. Despite its technical advantages, systemic comparisons singleton GS (sGS), trio (tGS), and exome sequencing-based standard-of-care (SoC) in real-world diagnostics remain limited. Methods We systematically compared sGS, tGS, SoC 448 patients with rare diseases blinded, prospective study. Three independent teams evaluated the diagnostic yield, detection...
Abstract Telomere maintenance mechanisms (TMM) are used by cancer cells to avoid apoptosis, 85-90% reactivate telomerase, while 10-15% use the alternative lengthening of telomeres (ALT). Due anti-telomerase-based treatments, some tumors have ability switch from a telomerase-dependent mechanism ALT, in fact, co-existence between telomerase and ALT pathway been observed variety types. Despite different elements uncovered, molecular other factors still poorly understood, which difficult...
Abstract Background Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with an estimated 0.38 new cases per 100,000 people year worldwide. Panel-based next-generation sequencing opens possibilities for diagnosis and therapy diseases such as this one. Because it has never been genetically studied the Ecuadorian population, we chose characterize pediatric patient anaplastic first time. Doing so allows us provide insights into treatment. Case presentation Our was...