Concept
Down syndrome
Related publications (26)
Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome
Research on microglia in Down syndrome (DS) has shown that microglial activation, increased inflammatory gene expression, and oxidative stress occur at different ages in DS brains. However, most studies resulted in simplistic definitions of microglia as qu ...
Basel2024Tcf1 is essential for initiation of oncogenic Notch1-driven chromatin topology in T-ALL
Freddy Radtke, Ute Koch, Nadine Fournier, Marianne Nkosi, Christelle Dubey, Mateusz Waldemar Antoszewski, Tara Kimberly Sugrue, Giovanni Ciriello
NOTCH1 is a well-established lineage specifier for T cells and among the most frequently mutated genes throughout all subclasses of T cell acute lymphoblastic leukemia (T-ALL). How oncogenic NOTCH1 signaling launches a leukemia-prone chromatin landscape du ...
AMER SOC HEMATOLOGY2022Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients
Olaf Blanke, Maude Schneider, Nathan Quentin Faivre, Roy Salomon, Oliver Alan Kannape, Mariia Kaliuzhna, Henrique Galvan Debarba
Schizophrenia is a chronic and disabling mental illness characterized by a disordered sense of self. Current theories suggest that deficiencies in the sense of control over one’s actions (Sense of Agency, SoA) may underlie some of the symptoms of schizophr ...
2022HIV host genomics in the era of effective antiretroviral therapy
Christian Axel Wandall Thorball
The introduction and widespread use of antiretroviral therapy against Human Immunodefi-ciency Virus (HIV) has had a remarkable effect on disease progression and the longevity of infected individuals. However, the establishment of a latent viral reservoir a ...
EPFL2020Wet Markets and Food Safety: TripAdvisor for Improved Global Digital Surveillance
Background: Wet markets are markets selling fresh meat and produce. Wet markets are critical for food security and sustainable development in their respective regions. Due to their cultural significance, they attract numerous visitors and consequently gene ...
2019Neurotrophic-mimetic strategy to rescue synaptic plasticity and cognitive functions in a mouse model of Down syndrome
Down syndrome (DS) is caused by the triplication of human chromosome 21, and it is the most frequent genetic cause of cognitive disabilities. Although numerous studies have shown that cognitive impairment possibly arises from dysfunction of the hippocampal ...
2018The phenotypic impact of naturally occurring genetic and molecular mitochondrial variation in a Drosophila Genetic Reference Population
Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...
EPFL2018Aerobic exercise and a BDNF-mimetic therapy rescue learning and memory in a mouse model of Down syndrome
Down syndrome (DS) is caused by the triplication of human chromosome 21 and represents the most frequent genetic cause of intellectual disability. The trisomic Ts65Dn mouse model of DS shows synaptic deficits and reproduces the essential cognitive disabili ...
2017Neurotrophic-mimetic strategy to rescue synaptic plasticity and cognitive functions in a mouse model of Down syndrome
Down syndrome (DS) or trisomy 21 is the most frequent genetic cause of intellectual disability in children and adults. Although numerous studies have shown that cognitive impairment possibly arises from dysfunction of the hippocampal circuit, there has bee ...
2017An affected core drives network integration deficits of the structural connectome in 22q11.2 deletion syndrome
Alessandra Griffa, Patric Hagmann, Marie Schaer, Frantisek Vasa
Chromosome 22q11.2 deletion syndrome (22q11DS) is a genetic disease known to lead to cerebral structural alterations, which we study using the framework of the macroscopic white-matter connectome. We create weighted connectomes of 44 patients with 22q11DS ...
Elsevier Sci Ltd2016