rudyvdbrink/CitationDatabase huggingface dataset:
ER-to-Golgi Transport in HeLa Cells Displays High Resilience to Ca
Cells, 2020

One third of all human proteins are either transmembrane or soluble secretory proteins that first target the endoplasmic reticulum (ER). These proteins subsequently leave the ER and enter the Golgi apparatus via ER-Golgi intermediate vesicular structures. Live-cell imaging of cargos fused to fluorescent proteins (FPs) enables the high-resolution visualization and characterization of secretory transport processes. Here, we performed fluorescence time-lapse imaging to assess the Ca
Brain Age Prediction Reveals Aberrant Brain White Matter in Schizophrenia and Bipolar Disorder: A Multisample Diffusion Tensor Imaging Study.
Biological psychiatry. Cognitive neuroscience and neuroimaging, 2020

Schizophrenia (SZ) and bipolar disorder (BD) share substantial neurodevelopmental components affecting brain maturation and architecture. This necessitates a dynamic lifespan perspective in which brain aberrations are inferred from deviations from expected lifespan trajectories. We applied machine learning to diffusion tensor imaging (DTI) indices of white matter structure and organization to estimate and compare brain age between patients with SZ, patients with BD, and healthy control (HC) subjects across 10 cohorts.
Loss of odor-induced c-Fos expression of juxtaglomerular activity following maintenance of mice on fatty diets.
Journal of bioenergetics and biomembranes, 2019

Diet-induced obesity (DIO) decreases the number of OMP+ olfactory sensory neurons (OSN) in the olfactory epithelium by 25% and reduces correlate axonal projections to the olfactory bulb (OB). Whether surviving OSNs have equivalent odor responsivity is largely unknown. Herein, we utilized c-fos immediate-early gene expression to map neuronal activity and determine whether mice weaned to control (CF), moderately-high fat (MHF), or high-fat (HF) diet for a period of 6 months had changes in odor activation. Diet-challenged M72-IRES-tau-GFP mice were exposed to either a preferred M72 (Olfr160) ligand, isopropyl tiglate, or clean air in a custom-made Bell-jar infusion chamber using an alternating odor exposure pattern generated by a picosprizer™. Mice maintained on fatty diets weighed significantly more and cleared glucose less efficiently as determined by an intraperitoneal glucose tolerance test (IPGTT). The number of juxtaglomerular cells (JGs) decreased following maintenance of the mice on the MHF diet for cells surrounding the medial but not lateral M72 glomerulus within a 4 cell-column distance. The percentage of c-fos + JGs surrounding the lateral M72 glomerulus decreased in fat-challenged mice whereas those surrounding the medial glomerulus were not affected by diet. Altogether, these results show an asymmetry in the responsiveness of the 'mirror image' glomerular map for the M72 receptor that shows greater sensitivity of the lateral vs. medial glomerulus upon exposure to fatty diet.
Oral health conditions in Wilson's disease patients: A clinical diagnostic study.
European journal of paediatric dentistry, 2020

The aims of this study were: To evaluate oral health conditions, oral health behaviours and eating habits in Wilson's disease (WD) patients; to assess the possible relationship between oral health status and long-term pharmacological therapies undertaken.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
American journal of human genetics, 2020

The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple membrane modeling and membrane-independent cellular processes. Here we describe six unrelated individuals with de novo missense variants affecting the ATPase domain of VPS4A, a critical enzyme regulating ESCRT function. Probands had structural brain abnormalities, severe neurodevelopmental delay, cataracts, growth impairment, and anemia. In cultured cells, overexpression of VPS4A mutants caused enlarged endosomal vacuoles resembling those induced by expression of known dominant-negative ATPase-defective forms of VPS4A. Proband-derived fibroblasts had enlarged endosomal structures with abnormal accumulation of the ESCRT protein IST1 on the limiting membrane. VPS4A function was also required for normal endosomal morphology and IST1 localization in iPSC-derived human neurons. Mutations affected other ESCRT-dependent cellular processes, including regulation of centrosome number, primary cilium morphology, nuclear membrane morphology, chromosome segregation, mitotic spindle formation, and cell cycle progression. We thus characterize a distinct multisystem disorder caused by mutations affecting VPS4A and demonstrate that its normal function is required for multiple human developmental and cellular processes.
Use of multi-flip angle measurements to account for transmit inhomogeneity and non-Gaussian diffusion in DW-SSFP.
NeuroImage, 2020

Diffusion-weighted steady-state free precession (DW-SSFP) is an SNR-efficient diffusion imaging method. The improved SNR and resolution available at ultra-high field has motivated its use at 7T. However, these data tend to have severe B
Intimate partner violence and lower relationship quality are associated with faster biological aging.
Psychology and aging, 2020

The characteristics of people's relationships have relevance to health-high quality romantic relationships are associated with improved health whereas intimate partner violence is associated with poorer health. Recently, increased attention has been focused on the biological processes underpinning these associations. A geroscience approach-examining whether close relationship characteristics are associated with biological aging-would complement previous research focused on individual disease pathways. This study used participants from the Dunedin Study (
Endoscopic investigation in non-iron deficiency anemia: a cost to the health system without patient benefit.
Endoscopy international open, 2016

The indication for endoscopy to investigate anemia of causes other than iron deficiency is not clear. Increasing numbers of endoscopic procedures for anemia raises concerns about costs to the health system, waiting times, and patient safety. The primary aim of this study was to determine the diagnostic yield of endoscopy in patients referred to undergo investigation for anemia. Secondary aims were to identify additional factors enabling the risk stratification of those likely to benefit from endoscopic investigation, and to undertake a cost analysis of performing endoscopy in this group of patients.
Behavioral and genetic features of sleep ontogeny in Drosophila.
Sleep, 2018

The fruit fly Drosophila melanogaster, like most organisms, exhibits increased sleep amount and depth in young compared to mature animals. While the fly has emerged as a powerful model for studying sleep during development, qualitative behavioral features of sleep ontogeny and its genetic control are poorly understood. Here we find that, in addition to increased sleep time and intensity, young flies sleep with less place preference than mature adults, and, like mammals, exhibit more motor twitches during sleep. In addition, we show that ontogenetic changes in sleep amount, twitch, and place preference are preserved across sleep mutants with lesions in distinct molecular pathways. Our results demonstrate that sleep ontogeny is characterized by multifaceted behavioral changes, including quantitative and qualitative alterations to sleep as animals mature. Further, the preservation of sleep ontogenetic changes despite mutations that alter sleep time suggests independent genetic control mechanisms for sleep maturation.
Brain Responses to Noxious Stimuli in Patients With Chronic Pain: A Systematic Review and Meta-analysis.
JAMA network open, 2021

Functional neuroimaging is a valuable tool for understanding how patients with chronic pain respond to painful stimuli. However, past studies have reported heterogenous results, highlighting opportunities for a quantitative meta-analysis to integrate existing data and delineate consistent associations across studies.
Subgroups of Temperament Associated with Social-Emotional Difficulties in Infants with Early Signs of Autism.
Autism research : official journal of the International Society for Autism Research, 2020

Links between temperament and social-emotional difficulties are well-established in normative child development but remain poorly characterized in autism. We sought to characterize distinct temperament subgroups and their associations with concurrent internalizing and externalizing symptoms in a sample of 103 infants (M
A randomised controlled trial comparing palate surgery at 6 months versus 12 months of age (the TOPS trial): a statistical analysis plan.
Trials, 2021

Cleft palate is among the most common birth abnormalities. The success of primary surgery in the early months of life is crucial for successful feeding, hearing, dental development, and facial growth. Over recent decades, age at palatal surgery in infancy has reduced. The Timing Of Primary Surgery for cleft palate (TOPS) trial aims to determine whether, in infants with cleft palate, it is better to perform primary surgery at age 6 or 12 months (corrected for gestational age).
Working memory updating training promotes plasticity & behavioural gains: A systematic review & meta-analysis.
Neuroscience and biobehavioral reviews, 2020

Recent reviews yield contradictory findings regarding the efficacy of working memory training and transfer to untrained tasks. We reviewed working memory updating (WMU) training studies and examined cognitive and neural outcomes on training and transfer tasks.
The perceived behavior and barriers of community care professionals in encouraging functional activities of older adults: the development and validation of the MAINtAIN-C questionnaire.
BMC health services research, 2020

Community care professionals need to encourage older adults in performing functional activities to maintain independence. However, professionals often perform functional activities on behalf of older adults. To change this, insights into the behavior and barriers of professionals in encouraging activities are required. In the current study, the MAINtAIN questionnaire, which was developed for nursing homes, was adopted. The objective was to create a modified version that is suitable for measuring behavior and barriers of community care professionals in encouraging functional activities of clients in the community care setting. The overall aims were to assess the content validity, construct validity, and internal consistency of the modified version.
Orthogonal arrays of particle assembly are essential for normal aquaporin-4 expression level in the brain.
Glia, 2021

Astrocyte endfeet are endowed with aquaporin-4 (AQP4)-based assemblies called orthogonal arrays of particles (OAPs) whose function is still unclear. To investigate the function of OAPs and of AQP4 tetramers, we have generated a novel "OAP-null" mouse model selectively lacking the OAP forming M23-AQP4 isoform. We demonstrated that AQP4 transcript levels were not reduced by using qPCR. Blue native (BN)/SDS-PAGE and Western blot performed on OAP-null brain and primary astrocyte cultures showed the complete depletion of AQP4 assemblies, the selective expression of M1-AQP4-based tetramers, and a substantial reduction in AQP4 total expression level. Fluorescence quenching and super-resolution microscopy experiments showed that AQP4 tetramers were functionally expressed in astrocyte plasma membrane and their dimensions were reduced compared to wild-type assemblies. Finally, as shown by light and electron microscopy, OAP depletion resulted in a massive reduction in AQP4 expression and a loss of perivascular AQP4 staining at astrocyte endfeet, with only sparse labeling throughout the brain areas analyzed. Our study relies on the unique property of AQP4 to form OAPs, using a novel OAP-null mouse model for the first time, to show that (a) AQP4 assembly is essential for normal AQP4 expression level in the brain and (b) most of AQP4 is organized into OAPs under physiological conditions. Therefore, AQP4 tetramers cannot be used by astrocytes as an alternative to OAPs without affecting AQP4 expression levels, which is important in the physiological and pathological conditions in which OAP aggregation/disaggregation dynamics have been implicated.
A pan-Canadian prospective study of young women with breast cancer: the rationale and protocol design for the RUBY study.
Current oncology (Toronto, Ont.), 2020

The understanding of the biology and epidemiology of, and the optimal therapeutic strategies for, breast cancer (bca) in younger women is limited. We present the rationale, design, and initial recruitment of Reducing the Burden of Breast Cancer in Young Women (ruby), a unique national prospective cohort study designed to examine the diagnosis, treatment, quality of life, and outcomes from the time of diagnosis for young women with bca.
A new device to treat mitral valve regurgitation: a proof of concept in bench test study.
Journal of medical engineering & technology, 2021

Mitral valve repair is typically performed by implanting a ring-like device at the valve annulus to reshape the annulus and to improve leaflet coaptation. In most cases, some additional procedures are needed, including leaflet resection and artificial chordae implantation. However, artificial chordae implantation could be technically challenging and postoperative left ventricular remodeling could increase the risk of recurrent mitral regurgitation. We propose an innovative annular device made of chromo-cobalt, finalized not only to reshape the annulus but also to enable anchoring of leaflets to a fixed intraventricular structure. Durability evaluation of the device was tested by applying eight radial force vectors equally spaced along the ring and related fatigue analysis. To evaluate the efficacy of the mitral valvuloplasty using the tested ring, the device was implanted in five adult swine hearts. Functional analysis of the ring was performed by measuring left ventricular pressure and fluid volume loss, following implantation in normal and dysfunctional mitral valve leaflets. Both fatigue and functional analysis showed satisfactory and promising results in terms of durability and efficacy of mitral valve repair. Because of its favorable durability and functional characteristics this device appears promising and provides good results in terms of valve competence, thus avoiding both manipulations of papillary muscles and interference in left ventricular hemodynamics. However, an
Pharmacokinetics and Pharmacodynamics of Lysergic Acid Diethylamide Microdoses in Healthy Participants.
Clinical pharmacology and therapeutics, 2021

"Microdoses" of lysergic acid diethylamide (LSD) are used recreationally to enhance mood and cognition. Increasing interest has also been seen in developing LSD into a medication. Therefore, we performed a pharmacokinetic-pharmacodynamic study using very low doses of LSD. Single doses of LSD base (5, 10, and 20 µg) and placebo were administered in a double-blind, randomized, placebo-controlled crossover study in 23 healthy participants. Test days were separated by at least 5 days. Plasma levels of LSD and subjective effects were assessed up to 6 hours after administration. Pharmacokinetic parameters were determined using compartmental modeling. Concentration-subjective effect relationships were described using pharmacokinetic-pharmacodynamic modeling. Mean (95% confidence interval) maximal LSD concentrations were 151 pg/mL (127-181), 279 pg/mL (243-320), and 500 pg/mL (413-607) after 5, 10, and 20 µg LSD administration, respectively. Maximal concentrations were reached after 1.1 hours. The mean elimination half-life was 2.7 hours (1.5-6.2). The 5 µg dose of LSD elicited no significant acute subjective effects. The 10 µg dose of LSD significantly increased ratings of "under the influence" and "good drug effect" compared with placebo. These effects began an average of 1.1 hours after 10 µg LSD administration, peaked at 2.5 hours, and ended at 5.1 hours. The 20 µg dose of LSD significantly increased ratings of "under the influence," "good drug effects," and "bad drug effects." LSD concentrations dose-proportionally increased at doses as low as 5-20 µg and decreased with a half-life of 3 hours. The threshold dose of LSD base for psychotropic effects was 10 µg.
Advanced imaging and labelling methods to decipher brain cell organization and function.
Nature reviews. Neuroscience, 2021

The brain is arguably the most complex organ. The branched and extended morphology of nerve cells, their subcellular complexity, the multiplicity of brain cell types as well as their intricate connectivity and the scattering properties of brain tissue present formidable challenges to the understanding of brain function. Neuroscientists have often been at the forefront of technological and methodological developments to overcome these hurdles to visualize, quantify and modify cell and network properties. Over the last few decades, the development of advanced imaging methods has revolutionized our approach to explore the brain. Super-resolution microscopy and tissue imaging approaches have recently exploded. These instrumentation-based innovations have occurred in parallel with the development of new molecular approaches to label protein targets, to evolve new biosensors and to target them to appropriate cell types or subcellular compartments. We review the latest developments for labelling and functionalizing proteins with small localization and functionalized reporters. We present how these molecular tools are combined with the development of a wide variety of imaging methods that break either the diffraction barrier or the tissue penetration depth limits. We put these developments in perspective to emphasize how they will enable step changes in our understanding of the brain.
Editorial for 
Brain sciences, 2019

In this Special Issue we bring together papers demonstrating the need for both detailed genomic and phenotypic studies to aid our scientific and clinical understanding of neurogenetic disorders [...].
Stimulating Cerebellar Outflow Reveals Temporal Control of Motor Cortical Activity.
Cell reports, 2019

Nashef et al. (2019) show that high-frequency stimulation of the superior cerebellar peduncle produces a temporary cerebellar deficit. While the deficit is present, motor cortex neurons that receive cerebellar input maintain their directional tuning but lose their noise correlation.
Aberrant Dopamine Receptor Signaling Plays Critical Role in the Impairment of Striatal Neurons in Experimental Cerebral Malaria.
Molecular neurobiology, 2020

One-fourth survivors of cerebral malaria (CM) retain long-term cognitive and behavioral deficits. Structural abnormalities in striatum are reported in 80% of children with CM. Dopamine receptors (D1 and D2) are widely expressed in striatal medium spiny neurons (MSNs) that regulate critical physiological functions related to behavior and cognition. Dysregulation of dopamine receptors alters the expression of downstream proteins such as dopamine- and cAMP-regulated phosphoprotein (DARPP), Ca
L- and M-cone ratios and magnocellular sensitivity in reading.
The International journal of neuroscience, 2010

It has been proposed that magnocellular deficits cause the reading problems in dyslexia. However, how magnocellular deficiencies are supposed to cause these problems is unclear. Recently it has been proposed that reading performance is limited by the L-/M-cone inputs to the magnocellular system. However, as explained in this review, this is problematic for a number of reasons. Particularly difficult is the linking of L- and M-cone sensitivity specifically to the magnocellular system.
Cortical electrophysiological evidence for individual-specific temporal organization of brain functional networks.
Human brain mapping, 2020

The human brain has been demonstrated to rapidly and continuously form and dissolve networks on a subsecond timescale, offering effective and essential substrates for cognitive processes. Understanding how the dynamic organization of brain functional networks on a subsecond level varies across individuals is, therefore, of great interest for personalized neuroscience. However, it remains unclear whether features of such rapid network organization are reliably unique and stable in single subjects and, therefore, can be used in characterizing individual networks. Here, we used two sets of 5-min magnetoencephalography (MEG) resting data from 39 healthy subjects over two consecutive days and modeled the spontaneous brain activity as recurring networks fast shifting between each other in a coordinated manner. MEG cortical maps were obtained through source reconstruction using the beamformer method and subjects' temporal structure of recurring networks was obtained via the Hidden Markov Model. Individual organization of dynamic brain activity was quantified with the features of the network-switching pattern (i.e., transition probability and mean interval time) and the time-allocation mode (i.e., fractional occupancy and mean lifetime). Using these features, we were able to identify subjects from the group with significant accuracies (~40% on average in 0.5-48 Hz). Notably, the default mode network displayed a distinguishable pattern, being the least frequently visited network with the longest duration for each visit. Together, we provide initial evidence suggesting that the rapid dynamic temporal organization of brain networks achieved in electrophysiology is intrinsic and subject specific.
Regional Variation in West and East Coast African-American English Prosody and Rap Flows.
Language and speech, 2020

Regional variation in African-American English (AAE) is especially salient to its speakers involved with hip-hop culture, as hip-hop assigns great importance to regional identity and regional accents are a key means of expressing regional identity. However, little is known about AAE regional variation regarding prosodic rhythm and melody. In hip-hop music, regional variation can also be observed, with different regions' rap performances being characterized by distinct "flows" (i.e., rhythmic and melodic delivery), an observation which has not been quantitatively investigated yet. This study concerns regional variation in AAE speech and rap, specifically regarding the United States' East and West Coasts. It investigates how East Coast and West Coast AAE prosody are distinct, how East Coast and West Coast rap flows differ, and whether the two domains follow a similar pattern: more rhythmic and melodic variation on the West Coast compared to the East Coast for both speech and rap. To this end, free speech and rap recordings of 16 prominent African-American members of the East Coast and West Coast hip-hop communities were phonetically analyzed regarding rhythm (e.g., syllable isochrony and musical timing) and melody (i.e., pitch fluctuation) using a combination of existing and novel methodological approaches. The results mostly confirm the hypotheses that East Coast AAE speech and rap are less rhythmically diverse and more monotone than West Coast AAE speech and rap, respectively. They also show that regional variation in AAE prosody and rap flows pattern in similar ways, suggesting a connection between rhythm and melody in language and music.
Are Linear Measurements of the Nucleus Basalis of Meynert Suitable as a Diagnostic Biomarker in Mild Cognitive Impairment and Alzheimer Disease?
AJNR. American journal of neuroradiology, 2019

Cell loss within the nucleus basalis of Meynert is an early event in Alzheimer disease. The thickness of the nucleus basalis of Meynert (NBM) can be measured on structural MR imaging. We investigated NBM thickness in relation to cognitive state and biochemical markers.