A5001721852- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- Pluripotent Stem Cells Research
- Tissue Engineering and Regenerative Medicine
- Genomics and Phylogenetic Studies
- CAR-T cell therapy research
- Genomics and Chromatin Dynamics
- Chronic Lymphocytic Leukemia Research
- Amphibian and Reptile Biology
- Animal Behavior and Reproduction
- DNA Repair Mechanisms
- melanin and skin pigmentation
- Plant Molecular Biology Research
- Genetic diversity and population structure
- Diabetes and associated disorders
- Acute Myeloid Leukemia Research
- COVID-19 Clinical Research Studies
- Chromosomal and Genetic Variations
- Advanced biosensing and bioanalysis techniques
- 3D Printing in Biomedical Research
- Pancreatic function and diabetes
- Muscle Physiology and Disorders
- Toxoplasma gondii Research Studies
- Venomous Animal Envenomation and Studies
- Developmental Biology and Gene Regulation
University of Geneva
2014-2025
Universidad de Navarra
2021-2025
Navarre Institute of Health Research
2021-2025
Centro de Investigación Biomédica en Red de Cáncer
2021-2024
Universitat de Barcelona
2024
Hospital Clínic de Barcelona
2024
Clinica Universidad de Navarra
2021-2024
SIB Swiss Institute of Bioinformatics
2015-2021
It is not well understood why diabetic individuals are more prone to develop severe COVID-19. To this, we here established a human kidney organoid model promoting early hallmarks of disease development. Upon SARS-CoV-2 infection, diabetic-like organoids exhibited higher viral loads compared with their control counterparts. Genetic deletion the angiotensin-converting enzyme 2 (ACE2) in under or conditions prevented detection. Moreover, cells isolated from biopsies patients altered...
To date, strategies aiming to modulate cell extracellular matrix (ECM) interactions during organoid derivation remain largely unexplored. Here renal decellularized ECM (dECM) hydrogels are fabricated from porcine and human cortex as biomaterials enrich cell-to-ECM crosstalk the onset of kidney differentiation pluripotent stem cells (hPSCs). Renal dECM-derived used in combination with hPSC-derived progenitor define new approaches for 2D 3D differentiation, demonstrating that presence these...
Two influential concepts in tissue patterning are Wolpert's positional information and Turing's self-organized reaction-diffusion (RD). The latter establishes the of hair feathers. Here, our morphological, genetic, functional-by CRISPR-Cas9-mediated gene disruption-characterization wild-type versus "scaleless" snakes reveals that near-perfect hexagonal pattern snake scales is established through interactions between RD skin somitic information. First, we show ventral scale development guided...
Squamates (snakes and lizards) exhibit a striking variety of phenotypes, with little known on their generative mechanisms. Studies aiming to understand the genetic basis this wide diversity in morphology, physiology ecology will greatly benefit from whole genome sequencing initiatives, as they provide foundation for comparative analyses improve our understanding evolution, development diversification traits. Here, we present first draft corn snake Pantherophis guttatus, an oviparous that...
Significance Reptiles exhibit a spectacular diversity of skin colors generated by interactions among black melanophores, red and yellow xanthophores, as well iridophores producing structural colors. Here, we use the corn snake to investigate generative mechanisms beyond zebrafish model. We perform sequencing annotation nearly chromosome-quality genome snake, followed mapping-by-sequencing identification mutation in lysosomal trafficking regulator gene ( LYST ) lavender variant with strongly...
Reptilian skin coloration is spectacular and diverse, yet little known about the ontogenetic processes that govern its establishment molecular signaling pathways determine it. Here, we focus on development of banded pattern leopard gecko hatchlings transition to black spots in adult. With our histological analyses, show iridophores are present white yellow bands hatchling they gradually perish adult skin. Furthermore, demonstrate melanophores can autonomously form absence other...
Abstract Generation of upscaled quantities human‐induced pluripotent stem cell‐derived cardiomyocytes (hiPSC‐CM), for therapeutic or testing applications, is both expensive and time‐consuming. Herein, a scalable bioprocess hiPSC‐CM expansion in stirred‐tank bioreactors (STB) developed. By combining the continuous activation Wnt pathway, through perfusion CHIR99021, within mild hypoxia environment, as aggregates maximized, reaching 4 billion pure 2L STB. In particular, importance i)...
Abstract Background Snakes exhibit a broad variety of adaptive colors and color patterns, generated by the spatial arrangement chromatophores, but little is known mechanisms responsible for these spectacular traits. Here, we investigate mono-locus trait with two recessive alleles, motley stripe , that both cause pattern aberrations in corn snake. Results We use mapping-by-sequencing to identify genomic interval where causal mutations reside. With our differential gene expression analyses,...
Clinical trials have shown that lentiviral-mediated gene therapy can ameliorate bone marrow failure (BMF) in nonconditioned Fanconi anemia (FA) patients resulting from the proliferative advantage of corrected FA hematopoietic stem and progenitor cells (HSPC). However, it is not yet known if revert affected molecular pathways diseased HSPC. Single-cell RNA sequencing was performed chimeric populations uncorrected HSPC co-existing BM therapy-treated patients. Our study demonstrates reverts...
Generating organs from stem cells through blastocyst complementation is a promising approach to meet the clinical need for transplants. In order generate rejection-free organs, of both parenchymal and vascular must be achieved, as endothelial play key role in graft rejection. Here, we used lineage-specific cell ablation system produce mouse embryos unable form cardiac systems. By intraspecies complementation, rescued heart development separately combination, obtaining complemented hearts...
Abstract While myelodysplastic syndromes with del(5q) (del(5q) MDS) comprises a well-defined hematological subgroup, the molecular basis underlying its origin remains unknown. Using single cell RNA-seq (scRNA-seq) on CD34 + progenitors from MDS patients, we have identified cells harboring deletion, characterizing transcriptional impact of this genetic insult disease pathogenesis and treatment response. Interestingly, both non-del(5q) present similar lesions, indicating that all cells, not...
Naive human pluripotent stem cells (hPSCs) are defined as the in vitro counterpart of preimplantation embryo's epiblast and used a model system to study developmental processes. In this study, we report discovery characterization distinct cell populations coexisting with epiblast-like 5iLAF naive induced PSC (hiPSC) cultures. It is noteworthy that these closely resemble different types embryo at early stages. While represent main population, interestingly detect population gene transposable...
Despite the availability of deep-sequencing techniques, genomic and transcriptomic data remain unevenly distributed across phylogenetic groups. For example, reptiles are poorly represented in sequence databases, hindering functional evolutionary developmental studies these lineages substantially more diverse than mammals. In addition, different use assembly annotation protocols, inhibiting meaningful comparisons. Here, we present “Reptilian Transcriptomes Database 2.0,” which provides...
The spatial organization of the mammalian genome relies upon formation chromatin domains various scales. At level gene regulation in cis, collections enhancer sequences define large regulatory landscapes that usually match with presence topologically associating (TADs). These often contain ranges enhancers displaying similar or related tissue specificity, suggesting some cases, such may act as coherent units, a global on off state. By using HoxD cluster, which specifies topology developing...
Abstract Corn snakes are emerging models for animal colouration studies. Here, we focus on the Terrazzo morph, whose skin pattern is characterized by stripes rather than blotches. Using genome mapping, discover a disruptive mutation in coding region of Premelanosome protein ( PMEL ) gene. Our transcriptomic analyses reveal that expression significantly downregulated embryonic tissues. We produce corn snake knockouts, which present comparable phenotype to and subcellular structure their...
Albinism and leucism are phenotypes resulting from impaired melanin pigmentation in the skin appendages. However, of eyes remains unaffected leucism. Here, using transmission electron microscopy, we show that leucistic morph Texas rat snake ( Pantherophis obsoletus lindheimeri ) lacks both melanophores xanthophores its exhibits a uniform ivory white color generated by iridophores collagen fibers. In addition, sequenced full genome individual obtained highly-contiguous near-chromosome quality...
Aged muscles accumulate satellite cells with a striking decline response to damage. Although intrinsic defects in themselves are the major contributors aging-associated stem cell dysfunction, increasing evidence suggests that changes muscle-stem local microenvironment also contribute aging. Here, we demonstrate loss of matrix metalloproteinase-10 (MMP-10) young mice alters composition muscle extracellular (ECM), and specifically disrupts niche. This situation causes premature features aging...
Each year, tens of thousands people worldwide die end-stage organ failure due to the limited availability organs for use in transplantation. To meet this clinical demand, one last frontiers regenerative medicine is generation humanized pigs from pluripotent stem cells (PSCs) via blastocyst complementation. For this, organ-disabled pig models are needed. As endothelial (ECs) play a critical role xenotransplantation rejection every organ, we aimed produce hematoendothelial-disabled embryos...
Background The spatial organization of the mammalian genome relies upon formation chromatin domains various scales. At level gene regulation in cis , collections enhancer sequences define large regulatory landscapes that usually match with presence topologically associating (TADs). These are largely determined by bound CTCF molecules and often contain ranges enhancers displaying similar or related tissue specificity, suggesting some cases such may act as coherent units, a global on off...
Summary SARS-CoV-2 infections lead to a high risk of hospitalization and mortality in diabetic patients. Why individuals are more prone develop severe COVID-19 remains unclear. Here, we established novel human kidney organoid model that mimics early hallmarks nephropathy. High oscillatory glucose exposure resulted metabolic changes, expansion extracellular membrane components, gene expression changes determined by scRNAseq, marked upregulation angiotensin-converting enzyme 2 (ACE2). Upon...