A5015460849- Neuroblastoma Research and Treatments
- Pluripotent Stem Cells Research
- Genetic Associations and Epidemiology
- Genetics, Aging, and Longevity in Model Organisms
- Neurogenesis and neuroplasticity mechanisms
- Genomics and Chromatin Dynamics
- Developmental Biology and Gene Regulation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Congenital heart defects research
- Retinal Development and Disorders
- Genetic and phenotypic traits in livestock
- CRISPR and Genetic Engineering
- Long-Term Effects of COVID-19
- Neuroscience and Neural Engineering
- Genetic diversity and population structure
- Genetics, Bioinformatics, and Biomedical Research
- Hedgehog Signaling Pathway Studies
- Vagus Nerve Stimulation Research
- Erythrocyte Function and Pathophysiology
- RNA Research and Splicing
- Spinal Cord Injury Research
- Virus-based gene therapy research
- Photoreceptor and optogenetics research
- Escherichia coli research studies
- Genomic variations and chromosomal abnormalities
Universitat de Barcelona
2006-2024
Institut d'Investigació Biomédica de Bellvitge
2022-2024
Institut de Biologia Evolutiva
2020-2024
Universitat Pompeu Fabra
2019-2024
Bellvitge University Hospital
2024
Barcelona Biomedical Research Park
2024
Northwestern University
2015-2020
Renal Research Institute
2020
Université Libre de Bruxelles
2014-2015
Hospital Sant Joan de Déu Barcelona
2008-2011
The transplantation of pluripotent stem-cell-derived neurons constitutes a promising avenue for the treatment several brain diseases. However, their potential repair cerebral cortex remains unclear, given its complexity and neuronal diversity. Here, we show that human visual cortical cells differentiated from embryonic stem can be transplanted integrate successfully into lesioned mouse adult cortex. expressed appropriate repertoire markers six layers, projected axons to specific targets,...
Tissue function and homeostasis reflect the gene expression signature by which combination of ubiquitous tissue-specific genes contribute to tissue maintenance stimuli-responsive function. Enhancers are central control this pattern. Here, we explore correlation between genomic location enhancers their role in expression. We find that showing activity highly enriched intronic regions regulate involved functions, whereas housekeeping more often controlled intergenic enhancers, common many...
Abstract Background The Red recombinase system of bacteriophage lambda has been used to inactivate chromosomal genes in E. coli K-12 through homologous recombination using linear PCR products. aim this study was induce mutations the genome some temperate Shiga toxin encoding bacteriophages. When phage are prophage state, they behave like genes. This enables marker genes, such as antibiotic resistance be incorporated into stx gene. Once phages' lytic cycle is activated, recombinant converting...
Abstract Background Neuroblastic tumors (NBT) derive from neural crest stem cells (NCSC). Histologically, NBT are composed by neuroblasts and Schwannian cells. In culture, neuroblastic (N-), substrate-adherent (S-) intermediate phenotype (I-) cell subtypes arise spontaneously. Methods Here, neuroblastoma (NB) line were characterized according to embryonic peripheral nervous system development markers (GAP43, Phox2b, Sox10, c-kit, GD2, NF68, vimentin, S100β, calcyclin ABCG2), morphological...
Holoprosencephaly (HPE) is defined as the incomplete separation of two cerebral hemispheres. The pathology HPE variable and, based on severity defect, divided into alobar, semilobar, and lobar. Using a novel hypomorphic Six3 allele, we demonstrate in mice that variability dosage results different phenotypes. Furthermore, show whereas semilobar phenotype from severe downregulation Shh expression rostral diencephalon ventral midline, alobar caused by Foxg1 anterior neural ectoderm. Consistent...
The enormous mammal's lifespan variation is the result of each species' adaptations to their own biological trade-offs and ecological conditions. Comparative genomics have demonstrated that genomic factors underlying both, species lifespans longevity individuals, are in part shared across tree life. Here, we compared protein-coding regions mammalian phylogeny detect individual amino acid (AA) changes by most long-lived mammals genes whose rates protein evolution correlate with longevity. We...
Recent advances in self-organizing, 3-dimensional tissue cultures of embryonic stem cells (ESCs) and induced pluripotent (iPSCs) provided an vitro model that recapitulates many aspects the vivo developmental steps. Using Rax-GFP-expressing ESCs, newly generated Six3−/− iPSCs, conditional null Six3delta/f;Rax-Cre we identified Six3 repression R-spondin 2 (Rspo2) as a required step during optic vesicle morphogenesis neuroretina differentiation. We validated these results by showing transient...
Brain organoids (BO) have risen as a reliable model for neurodelopmental disorders (ND), reproducing human brain development milestones. However, their significant intra- and inter-organoid variability compromises use in advanced tasks such drug testing. Overcoming experimental is crucial models prone to variation, like unguided BO. BO modelling Dravet Syndrome, late-onset epileptic ND, represents great challenge since accumulates with time, when phenotype shows vitro. Leveraging deep...
Targeted genome editing in mouse embryonic stem cells (ESCs) is a powerful resource to functionally characterize genes and regulatory elements. The use of the CRISPR/Cas9 approach has remarkably improved time efficiency targeted recombination. However, this protocol still far from ideal when aiming for bi-allelic homologous recombination, requiring at least two independent targeting recombination events. Here we describe an that uses gRNAs flanking selected region, leading highly efficient...
Differentiated histopathology is a favorable prognostic factor in neuroblastic tumors, and molecular pathways underlying neuroblastoma differentiation can be modulated pharmacologically. The calcium-sensing receptor (CaR) parathyroid hormone-related protein (PTHrP) regulate processes some cellular contexts. CaR up-regulated when neural stem cells are specified to the oligodendrocyte lineage regulates PTHrP production astrocytes. objective of current study was assess whether participate...
Abstract Rainforest hunter–gatherers from Southeast Asia are characterized by specific morphological features including a particularly dark skin color (D), short stature (S), woolly hair (W), and the presence of steatopygia (S)—fat accumulation localized in hips (DSWS phenotype). Based on previous evidence Andamanese population, we first signatures adaptive natural selection around calcium-sensing receptor gene Asian rainforest groups presenting DSWS phenotype identified R990G substitution...
Engrafting organoids into vascularized tissues in model animals, such as the immunodeficient mouse or chick embryo chorioallantoic membrane (CAM), has proven efficient for neovascularization modeling. The CAM is a richly extraembryonic membrane, which shows limited immunoreactivity, thus becoming an excellent hosting human origin cell transplants. This paper describes strategy to engraft brain differentiated at multiple maturation stages CAM. cellular composition of changes with time,...
Autism spectrum disorder ( ASD ) results from interactions of genetic and environmental factors. The MET proto‐oncogene has been identified as a candidate gene for autism susceptibility, is implicated in neurodevelopment social brain circuitry. Here, we describe the first case familial mutation , consisting an interstitial genomic deletion removing exons 12 through 15, causing frameshift premature stop codon, with evidence nonsense‐mediated mRNA decay. On other allele, patients carried C...
Neuroblastic tumours (NBTs) represent a heterogeneous spectrum of neoplastic diseases associated with multiple genetic alterations. Structural and numerical chromosomal changes are frequent predictive parameters NBTs outcome. We performed comparative analysis the biological entities constituted by different ploidy status.Gene expression profiling 49 diagnostic primary data was using oligonucleotide microarray. Further analyses Quantitative Real-Time Polymerase Chain Reaction (Q-PCR);...
Abstract Tissue function and homeostasis reflect the gene expression signature by which combination of ubiquitous tissue-specific genes contribute to tissue maintenance stimuli-responsive function. Enhancers are central control this pattern. Here, we explore correlation between genomic location enhancers their role in expression. We found that showing activity highly enriched intronic regions regulate involved functions, while housekeeping more often controlled intergenic enhancers. Notably,...
The ability of detecting adaptive (positive) selection in the genome has opened possibility understanding genetic basis population-specific adaptations genome-wide. Here, we present analysis recent selective sweeps, specifically X chromosome, human populations from third phase 1,000 Genomes Project using three different haplotype-based statistics. We describe instances positive that fit criteria hard or soft and detect a higher number events among sub-Saharan Africans than non-Africans...
Abstract The expansion of the mammalian brain is associated with specific developmental processes; however, not much known about how evolutionary changes participated in acquisition human traits during early stages. Here we investigated whether enhancers active phylotypic stage show human-specific genomic divergence which could contribute to forebrain. Notably, identified an enhancer containing a accelerated region (HAR) located Chromosome 14q12, enriched neurodevelopmental genes, such as...
Abstract Background The increased vulnerability of Alzheimer’s disease patients to severe SARS‐CoV‐2 infection raises crucial concerns, especially with the potential transition COVID‐19 pandemic an endemic state. Given rising prevalence in aging world‐wide population, elucidating whether may induce or accelerate neurodegeneration becomes imperative. Method To investigate neurodegenerative effects infection, we generated brain organoids using human induced pluripotent stem lines from one...
TRPP3 (also called PKD2L1) is a nonselective, cation-permeable channel activated by multiple stimuli, including extracellular pH changes. had been considered candidate for sour sensor in humans, due to its high expression subset of tongue receptor cells detecting sour, along with membership the TRP family known function as sensory receptors. Here, we describe functional consequences two non-synonymous genetic variants (R278Q and R378W) found be under strong positive selection an Ethiopian...
Abstract Mammals vary 100-fold in their maximum lifespan. This enormous variation is the result of adaptations each species to own biological trade-offs and ecological conditions. Comparative genomics studies have demonstrated that genomic factors underlying lifespans longevity individuals are shared across tree life. Here, we set out compare protein-coding regions mammalian phylogeny, aiming detect individual amino acid changes by most long-lived mammal genes whose rates protein evolution...