A5064863164- Bat Biology and Ecology Studies
- RNA modifications and cancer
- MicroRNA in disease regulation
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Circular RNAs in diseases
- Cancer-related molecular mechanisms research
- Genomic variations and chromosomal abnormalities
- Marine animal studies overview
- Genomics and Chromatin Dynamics
- Viral Infections and Vectors
- Tissue Engineering and Regenerative Medicine
- Zebrafish Biomedical Research Applications
- Animal Vocal Communication and Behavior
- Mesenchymal stem cell research
- Genomics and Phylogenetic Studies
- interferon and immune responses
- Molecular Biology Techniques and Applications
- Epigenetics and DNA Methylation
- Pluripotent Stem Cells Research
- Biomedical Text Mining and Ontologies
- Environmental DNA in Biodiversity Studies
- RNA Research and Splicing
- Viral Infections and Outbreaks Research
Max Planck Institute for Psycholinguistics
2015-2025
University of St Andrews
2022
Alphabet (United States)
2022
Max Planck Society
2011-2017
Centro Cardiologico Monzino
2009-2013
Istituti di Ricovero e Cura a Carattere Scientifico
2009-2011
Fondazione Matilde Tettamanti Menotti De Marchi
2011
Istituto Dermopatico dell'Immacolata
2011
AimsCirculating microRNAs (miRNAs) may represent a novel class of biomarkers; therefore, we examined whether acute myocardial infarction (MI) modulates miRNAs plasma levels in humans and mice.
Abstract Bats possess extraordinary adaptations, including flight, echolocation, extreme longevity and unique immunity. High-quality genomes are crucial for understanding the molecular basis evolution of these traits. Here we incorporated long-read sequencing state-of-the-art scaffolding protocols 1 to generate, our knowledge, first reference-quality six bat species ( Rhinolophus ferrumequinum , Rousettus aegyptiacus Phyllostomus discolor Myotis myotis Pipistrellus kuhlii Molossus molossus...
Abstract Exceptionally long-lived species, including many bats, rarely show overt signs of aging, making it difficult to determine why species differ in lifespan. Here, we use DNA methylation (DNAm) profiles from 712 known-age representing 26 identify epigenetic changes associated with age and longevity. We demonstrate that DNAm accurately predicts chronological age. Across longevity is negatively the rate change at age-associated sites. Furthermore, analysis several bat genomes reveals...
Zoonoses are infectious diseases transmitted from animals to humans. Bats have been suggested harbour more zoonotic viruses than any other mammalian order1. Infections in bats largely asymptomatic2,3, indicating limited tissue-damaging inflammation and immunopathology. To investigate the genomic basis of disease resistance, Bat1K project generated reference-quality genomes ten bat species, including potential viral reservoirs. Here we describe a systematic analysis covering 115 that revealed...
We examined circulating miRNA expression profiles in plasma of patients with coronary artery disease (CAD) vs. matched controls, the aim identifying novel discriminating biomarkers Stable (SA) and Unstable (UA) angina.An exploratory analysis plasmatic profile 367 miRNAs was conducted a group SA UA control donors, using TaqMan microRNA Arrays. Screening confirmation were performed by qRT-PCR: all found dysregulated troponin-negative (n=19) (n=34) subjects (n=20), for sex, age, cardiovascular...
Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent nuclear that acts transcriptional regulator miR-137 is brain enriched small non-coding RNA interacts with transcripts to control protein levels. Given mounting evidence in autism spectrum disorders (ASD) schizophrenia ASD, we investigated if there was functional biological relationship...
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence potential severity for quality of life. While large-scale genomic screens have made advances in this area, many underpinnings are complex poorly understood. To date field has focused predominantly on protein coding variation, but importance tightly controlled gene expression normal brain development disorder, variation that affects non-coding regulatory...
FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss single copy leads phenotype that is largely restricted orofacial impairment during articulation linguistic processing deficits. Why perturbed function affects specific aspects developing brain remains elusive. We investigated role neuronal differentiation found drives molecular changes consistent with human model system. identified network...
Abstract Bats carry viruses that can cause severe disease in other mammals. Asymptomatic infections bats suggest limited tissue-damaging inflammation and immunopathology. To investigate the genomic basis of resistance, Bat1K project generated reference-quality genomes ten bat species. A systematic analysis showed signatures selection immune genes are more prevalent compared with We found an excess gene adaptations ancestral Chiroptera many descending lineages, highlighting viral entry...
Mutations of the FOXP2 gene cause a severe speech and language disorder, providing molecular window into neurobiology language. Individuals with mutations have structural functional alterations affecting brain circuits that overlap sites expression, including regions cortex, striatum, cerebellum. displays complex patterns expression in brain, as well non-neuronal tissues, suggesting sophisticated regulatory mechanisms control its temporal-spatial expression. However, to date, little is known...
The vascular competence of human-derived hematopoietic progenitors for postnatal vascularization is still poorly characterized. It unclear whether, in the absence ischemia, participate neovascularization and whether they play a role new blood vessel formation by incorporating into developing vessels or paracrine action.In present study, human cord blood-derived CD34(+) (hCD34(+)) cells were transplanted pre- postgastrulation zebrafish embryos an adult regeneration model induced caudal fin...
The efficacy of cardiac repair by stem cell administration relies on a successful functional integration injected cells into the host myocardium. Safety concerns have been raised about possibility that may induce foci arrhythmia in ischemic In previous work (36), we showed human cord blood CD34(+) cells, when cocultured neonatal mouse cardiomyocytes, exhibit excitation-contraction coupling features similar to those even though no genes were upregulated. aims present are investigate whether...
Abstract Genes including FOXP2 , FOXP1 and CNTNAP2 have been implicated in human speech language phenotypes, pointing to a role the development of normal language‐related circuitry brain. Although are unique humans comparative approach is possible by addressing language‐relevant traits animal systems. One such trait, vocal learning, represents an essential component spoken language, shared cetaceans, pinnipeds, elephants, some birds bats. Given their learning abilities, gregarious nature,...
Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, substantial proportion cases lack molecular diagnosis. As such, there remains much uncover for complete understanding genetic underpinnings ID. Genetic variants present in non-coding regions genome have been highlighted as potential contributors disorders given their role regulating gene...
As high-throughput sequencing technologies advance, standardized methods for high quality tissue acquisition and preservation allow the extension of these to non-model organisms. A series protocols optimize collection from bats has been developed a approaches. Outlined here are capture bats, desired demographics be collected each bat, optimized minimize stress on bat during collection. Specifically outlined collecting treating obtain (i) DNA molecular weight genomic analyses, (ii) RNA...
Abstract Bats account for ~20% of all extant mammal species and are considered exceptional given their extraordinary adaptations, including biosonar, true flight, extreme longevity, unparalleled immune systems. To understand these we generated reference-quality genomes six representing the key divergent lineages. We assembled with a novel pipeline incorporating state-of-the-art long-read long-range sequencing assembly techniques. The were annotated using maximal evidence approach, de novo...
Background Use of peripheral blood- or bone marrow-derived progenitors for ischemic heart repair is a feasible option to induce neo-vascularization in tissues. These cells, named Endothelial Progenitors Cells (EPCs), have been extensively characterized phenotypically and functionally. The clinical efficacy cardiac by EPCs cells remains, however, limited, due cell autonomous defects as consequence risk factors. devise "enhancement" strategies has therefore sought improve ability these...
Abstract Vocal learning, the ability to produce modified vocalizations via learning from acoustic signals, is a key trait in evolution of speech. While extensively studied songbirds, mammalian models for vocal are rare. Bats present promising study system given their gregarious natures, small size, and some species be maintained captive colonies. We utilize pale spear‐nosed bat ( Phyllostomus discolor ) report advances establishing this as tractable model understanding learning. have taken...
Mutations of FOXP2 in 7q31 cause a rare disorder involving speech apraxia, accompanied by expressive and receptive language impairments. A recent report described child with deficits, genomic rearrangement affecting chromosomes 7 11. One breakpoint mapped to and, although outside its coding region, was hypothesised disrupt expression. We identified an element 2 kb downstream this epigenetic characteristics enhancer. show that drives reporter gene expression human cell-lines. Thus,...
The epigenetic enzyme p300/CBP-associated factor (PCAF) belongs to the GCN5-related N-acetyltransferase (GNAT) family together with GCN5. Although its transcriptional and post-translational function is well characterized, little known about properties as regulator of cell metabolism. Here, we report mitochondrial localization PCAF conferred by an 85 aa targeting sequence (MTS) at N-terminal region protein. In mitochondria, one targets isocitrate dehydrogenase 2 (IDH2) acetylated lysine 180....
Abstract Exceptionally long-lived species, including many bats, rarely show overt signs of aging, making it difficult to determine why species differ in lifespan. Here, we use DNA methylation (DNAm) profiles from 712 known-age representing 26 identify epigenetic changes associated with age and longevity. We demonstrate that DNAm accurately predicts chronological age. Across longevity is negatively the rate change at age-associated sites. Furthermore, analysis several bat genomes reveals...
As high-throughput sequencing technologies advance, standardized methods for high quality tissue acquisition and preservation allow the extension of these to non-model organisms. A series protocols optimize collection from bats has been developed a approaches. Outlined here are capture bats, desired demographics be collected each bat, optimized minimize stress on bat during collection. Specifically outlined collecting treating obtain (i) DNA molecular weight genomic analyses, (ii) RNA...