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Lopes, T.

Publications and source records attributed to Lopes, T..

4 recordsLinked to original sources

WATER reveals heterochrony of molecular programs underlies developmental failure caused by minor spliceosome inhibition

The final limb structure reflects coordinated deployment of molecular programs, defined not only by which genes are expressed but when they are activated and silenced across time. Existing omics analyses obscure the temporal unfolding of these programs and conflate program identity with deployment timing by assuming temporal equivalence between conditions. We developed WATER (Weighted Windowed Assignment of Temporal Expression of RNA), a framework that reconstructs temporal gene expression trajectories independently within each condition, enabling direct comparison of temporal program architecture between wild-type and perturbed systems. Applying WATER to U11-null mouse forelimb development revealed that minor spliceosome inhibition redistributes genes across inappropriate temporal trajectories. Minor spliceosome inhibition causes splicing defects in minor intron-containing genes such as the PRC2 component Eed, leading to reduced H3K27me3 deposition and chromatin-transcription divergence. Single-cell RNA sequencing revealed persistence of progenitor states, impaired chondrogenic progression, and p53-dependent apoptotic checkpoint activation. Orthogonal WATER analysis of Eed-knockout stem cells recapitulated key features of chromatin gating failure, including temporal redistribution of skeletal development programs and progenitor state persistence, confirming that Eed loss alone is sufficient to produce temporal program redistribution independently of other splicing defects. Trp53 ablation in U11-null limbs partially rescued distal limb structures without correcting the underlying splicing defects, establishing that checkpoint activation amplifies rather than initiates the timing disruption. The limb retains much of its molecular toolkit but executes it in the wrong order, demonstrating that developmental failure arises from mistimed deployment of intact molecular programs. Thus, temporal program architecture is a fundamental organizing principle of morphogenesis.

developmental biology↗

Development and assessment of a new multichannel electrocutaneous device for non-invasive somatosensory stimulation for magnetic resonance applications

Electrocutaneous stimulation (ES) relies on the application of an electrical current flowing through the surface of the skin, eliciting a tactile percept. It can be applied for somatosensory mapping approaches at functional magnetic resonance imaging (fMRI) to obtain somatotopic maps illustrating the spatial patterns reflecting the functional organization of the primary somatosensory cortex (S1). However, its accessibility remains constrained, particularly in applications requiring multiple stimulation channels. Furthermore, the magnetic resonance (MR) environment poses several limitations in this regard. This study presents a prototype of a multichannel electrocutaneous stimulation device designed for somatosensory stimulation of the upper limbs of human participants in an MR environment in an inexpensive, safe, customizable, controlled, reproducible, and automated way. Our current-controlled, voltage-limited, stimulation device comprises 20 stimulation channels that can be individually configured to deliver various non-simultaneous combinations of personalized electrical pulses, depending on the subject, stimulation site, and stimulation paradigm. It can deliver a predefined electrical stimulus during fMRI acquisition, synchronized with the stimulation task design and triggered upon initiation of the acquisition sequence. Regarding device assessment, we conducted tests using an electrical circuit equivalent to the impedance of the human body and the electrode-skin interface to validate its feasibility. Then, we evaluated user acceptability by testing the device in human participants. Considering the stringent conditions of the MR environment, we performed a comprehensive set of safety and compatibility evaluations using a phantom. Lastly, we acquired structural and functional MR data from a participant during a somatosensory stimulation experiment to validate brain activity elicited by electric stimulation with our device. These assessments confirmed the devices safety in fMRI studies and its ability to elicit brain activity in the expected brain areas. The scope of application of our device includes fMRI studies focused on somatosensory mapping and brain-computer interfaces related to somatosensory feedback.

neuroscience↗

Aneuploidy Promotes Intestinal Dysplasia in Drosophila

Aneuploidy is associated with different human diseases, particularly cancer, but how different cell types within tissues respond to aneuploidy is not fully understood. In some studies, aneuploidy has been shown to have a deleterious effect and lead to cell death, however it has also been shown to be a causal event of tumorigenesis in other contexts.\n\nHere, we show that Drosophila intestinal stem cells have a particular tolerance to aneuploidy and do not activate apoptosis in response to chromosome misegregation like other non-stem cells. Instead, we observe the development of tissue dysplasia characterized by an accumulation of progenitor cells, increased stem cell proliferation rate, and an excess of cells of the enteroendocrine lineage. Our findings highlight the importance of mechanisms acting to prevent aneuploidy within tissue stem cells and provide an in vivo model of how these cells can act as reservoirs for genomic alterations that can lead to dysplasia.

developmental biology↗

Default Mode Network patterns and its interactions with memory performance in patients with Temporal Lobe Epilepsy and controls

Objectiveto investigate abnormal functional connectivity in the resting-state default mode network (DMN) and its relation to memory impairments in patients with temporal lobe epilepsy with and without hippocampal sclerosis (HS)\n\nMethodwe enrolled 122 MTLE patients divided into right-HS (n=42), left-HS (n=49), MRI-negative MTLE (n=31) and controls (n=69). All underwent resting-state seed-based connectivity fMRI, with a seed placed at the posterior cingulate cortex, an essential node for the DMN. In addition, patients and 41 controls were tested for verbal and visual memory, estimated intelligence coefficient and delayed recall.\n\nResultsBoth right-HS and MRI-negative group presented the poorest visual memory scores, and right-HS and left-HS had a worse performance in verbal memory compared to controls and MRI-negative groups. As expected, hippocampus was less connected than controls in all groups of patients. Although EEGs indicated that 64.5% of MRI-negative patients were lateralized to the left, this group showed activations similar to the right-HS.\n\nConclusionOur data suggest that there is a disruption of the normal pattern of DMN in MTLE. Patients with left and right-HS presented similar, increased and decreased connectivity in the ipsilateral hemisphere; however, left-HS had abnormal decreased connectivity in the contralateral hemisphere. Per neuropsychological examination, the presence of HS in the left hemisphere had more impact on verbal memory, which was not found when the seizure focus is in the left hemisphere in the absence of HS. The absence of hippocampal atrophy seems to yield a less prominent disruption in both functional connectivity and neuropsychological performance.

neuroscience↗