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  1. Article: mTORC2 Steals the Spotlight.

    Jansen, Laura A

    Epilepsy currents

    2020  Volume 20, Issue 2, Page(s) 116–117

    Abstract: Box: see text]. ...

    Abstract [Box: see text].
    Language English
    Publishing date 2020-02-26
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/1535759720905835
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Effect of Magnetic Resonance Image Quality on Structural and Functional Brain Connectivity: The Maastricht Study.

    de Jong, Joost J A / Jansen, Jacobus F A / Vergoossen, Laura W M / Schram, Miranda T / Stehouwer, Coen D A / Wildberger, Joachim E / Linden, David E J / Backes, Walter H

    Brain sciences

    2024  Volume 14, Issue 1

    Abstract: In population-based cohort studies, magnetic resonance imaging (MRI) is vital for examining brain structure and function. Advanced MRI techniques, such as diffusion-weighted MRI (dMRI) and resting-state functional MRI (rs-fMRI), provide insights into ... ...

    Abstract In population-based cohort studies, magnetic resonance imaging (MRI) is vital for examining brain structure and function. Advanced MRI techniques, such as diffusion-weighted MRI (dMRI) and resting-state functional MRI (rs-fMRI), provide insights into brain connectivity. However, biases in MRI data acquisition and processing can impact brain connectivity measures and their associations with demographic and clinical variables. This study, conducted with 5110 participants from The Maastricht Study, explored the relationship between brain connectivity and various image quality metrics (e.g., signal-to-noise ratio, head motion, and atlas-template mismatches) that were obtained from dMRI and rs-fMRI scans. Results revealed that in particular increased head motion (R
    Language English
    Publishing date 2024-01-08
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci14010062
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: The Space-Time Continuum of Cortical Dysplasia.

    Jansen, Laura A

    Epilepsy currents

    2019  Volume 19, Issue 1, Page(s) 54–56

    Abstract: Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, ... ...

    Abstract Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA. Cell Rep. 2017;21:3754-3766. Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep sequencing of these genes in FCD/HME brain tissue identified an etiology in 27 (41%) of 66 cases. Radiographically indistinguishable lesions are caused by somatic activating mutations in AKT3, MTOR, and PIK3CA and germline loss-of-function mutations in DEPDC5, NPRL2, and TSC1/2, including TSC2 mutations in isolated HME demonstrating a "two-hit" model. Mutations in the same gene cause a disease continuum from FCD to HME to bilateral brain overgrowth, reflecting the progenitor cell and developmental time when the mutation occurred. Single-cell sequencing demonstrated mTOR activation in neurons in all lesions. Conditional Pik3ca activation in the mouse cortex showed that mTOR activation in excitatory neurons and glia, but not interneurons, is sufficient for abnormal cortical overgrowth. These data suggest that mTOR activation in dorsal telencephalic progenitors, in some cases specifically the excitatory neuron lineage, causes cortical dysplasia.
    Language English
    Publishing date 2019-01-30
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/1535759718822039
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  4. Article ; Online: GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.

    Venhuizen, Jeron / van Bergen, Maaike G J M / Bergevoet, Saskia M / Gilissen, Daan / Spruijt, Cornelia G / Wingens, Laura / van den Akker, Emile / Vermeulen, Michiel / Jansen, Joop H / Martens, Joost H A / van der Reijden, Bert A

    Communications biology

    2024  Volume 7, Issue 1, Page(s) 374

    Abstract: The transcription factor Growth Factor Independence 1B (GFI1B) recruits Lysine Specific Demethylase 1 A (LSD1/KDM1A) to stimulate gene programs relevant for megakaryocyte and platelet biology. Inherited pathogenic GFI1B variants result in ... ...

    Abstract The transcription factor Growth Factor Independence 1B (GFI1B) recruits Lysine Specific Demethylase 1 A (LSD1/KDM1A) to stimulate gene programs relevant for megakaryocyte and platelet biology. Inherited pathogenic GFI1B variants result in thrombocytopenia and bleeding propensities with varying intensity. Whether these affect similar gene programs is unknow. Here we studied transcriptomic effects of four patient-derived GFI1B variants (GFI1B
    MeSH term(s) Humans ; Megakaryocytes/metabolism ; Cell Differentiation/genetics ; Hematopoiesis/genetics ; Histone Demethylases/genetics ; Histone Demethylases/metabolism ; Gene Expression Regulation ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins/metabolism ; Repressor Proteins/metabolism
    Chemical Substances Histone Demethylases (EC 1.14.11.-) ; GFI1B protein, human ; Proto-Oncogene Proteins ; Repressor Proteins ; KDM1A protein, human (EC 1.5.-)
    Language English
    Publishing date 2024-03-28
    Publishing country England
    Document type Journal Article
    ISSN 2399-3642
    ISSN (online) 2399-3642
    DOI 10.1038/s42003-024-06090-z
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  5. Article ; Online: The protective effect of COVID-19 vaccines on developing multisystem inflammatory syndrome in children (MIS-C): a systematic literature review and meta-analysis.

    Hamad Saied, Mohamad / van der Griend, Laura / van Straalen, Joeri W / Wulffraat, Nico M / Vastert, Sebastiaan / Jansen, Marc H A

    Pediatric rheumatology online journal

    2023  Volume 21, Issue 1, Page(s) 80

    Abstract: Objective: To review whether the current COVID-19 vaccines can prevent the occurrence of multisystem inflammatory syndrome in children (MIS-C) and adolescents.: Methods: A systematic literature review and meta-analysis were performed. The data were ... ...

    Abstract Objective: To review whether the current COVID-19 vaccines can prevent the occurrence of multisystem inflammatory syndrome in children (MIS-C) and adolescents.
    Methods: A systematic literature review and meta-analysis were performed. The data were abstracted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Primary outcome was the efficacy of COVID-19 vaccination in preventing MIS-C development. The search was performed in PubMed and Embase.
    Results: The review yielded 13 studies, which were included for critical appraisal and data extraction. The available studies showed a reduced incidence of MIS-C after mRNA COVID-19 vaccination in children aged 12-18 years. Four studies were eligible for meta-analysis and the pooled odds ratio for MIS-C in vaccinated children compared to unvaccinated children was 0.04 (95% confidence interval: 0.03-0.06). Additionally, the risk of MIS-C as an adverse effect of vaccination was much lower compared to the risk of MIS-C post-infection.
    Conclusions: Our systematic review highlights the current available evidence on the efficacy of COVID-19 vaccination in preventing MIS-C. The published studies so far - mainly conducted during the Delta wave - indicate that (original strain) COVID-19 mRNA vaccines in children are safe and associated with significantly less development of MIS-C. These findings further reinforce the recommendation for COVID-19 vaccination in children, which should be promoted and largely supported.
    MeSH term(s) Adolescent ; Child ; Humans ; COVID-19 Vaccines/adverse effects ; COVID-19/prevention & control ; Systemic Inflammatory Response Syndrome/prevention & control ; Child Development
    Chemical Substances COVID-19 Vaccines
    Language English
    Publishing date 2023-08-07
    Publishing country England
    Document type Systematic Review ; Meta-Analysis ; Journal Article ; Review
    ZDB-ID 2279468-2
    ISSN 1546-0096 ; 1546-0096
    ISSN (online) 1546-0096
    ISSN 1546-0096
    DOI 10.1186/s12969-023-00848-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Neonatal Seizures: Is the Remedy Worse Than the Disease?

    Jansen, Laura A

    Epilepsy currents

    2018  Volume 18, Issue 1, Page(s) 51–52

    Language English
    Publishing date 2018-05-22
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.5698/1535-7597.18.1.51
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  7. Article: Delving Deeper into

    Jansen, Laura A

    Epilepsy currents

    2018  Volume 18, Issue 3, Page(s) 197–199

    Language English
    Publishing date 2018-02-13
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.5698/1535-7597.18.3.197
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  8. Article: Making Connections With GABA.

    Jansen, Laura A

    Epilepsy currents

    2017  Volume 17, Issue 6, Page(s) 377–378

    Language English
    Publishing date 2017-11-29
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.5698/1535-7597.17.6.377
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  9. Article ; Online: DEcreased Cognitive functiON, NEurovascular CorrelaTes and myocardial changes in women with a history of pre-eclampsia (DECONNECT): research protocol for a cross-sectional pilot study.

    Brandt, Yentl / Alers, Robert-Jan / Canjels, Lisanne P W / Jorissen, Laura M / Jansen, Gwyneth / Janssen, Emma B N J / van Kuijk, Sander / Went, Tamara Michelle / Koehn, Dennis / Gerretsen, Suzanne C / Jansen, Jacobus / Backes, Walter / Hurks, Petra P M / van de Ven, Vincent / Kooi, M Eline / Spaanderman, Marc E A / Ghossein-Doha, Chahinda

    BMJ open

    2024  Volume 14, Issue 3, Page(s) e077534

    Abstract: Introduction: Pre-eclampsia is a hypertensive disorder affecting up to 8% of pregnancies. After pre-eclampsia, women are at increased risk of cognitive problems, and cerebrovascular and cardiovascular disorders. These sequelae could result from ... ...

    Abstract Introduction: Pre-eclampsia is a hypertensive disorder affecting up to 8% of pregnancies. After pre-eclampsia, women are at increased risk of cognitive problems, and cerebrovascular and cardiovascular disorders. These sequelae could result from microvascular dysfunction persisting after pre-eclampsia. This study will explore differences in cerebral and myocardial microvascular function between women after pre-eclampsia and women after normotensive gestation. We hypothesise that pre-eclampsia alters cerebral and myocardial microvascular functions, which in turn are related to diminished cognitive and cardiac performance.
    Methods and analysis: The cross-sectional 'DEcreased Cognitive functiON, NEurovascular CorrelaTes and myocardial changes in women with a history of pre-eclampsia' (DECONNECT) pilot study includes women after pre-eclampsia and controls after normotensive pregnancy between 6 months and 20 years after gestation. We recruit women from the Queen of Hearts study, a study investigating subclinical heart failure after pre-eclampsia. Neuropsychological tests are employed to assess different cognitive domains, including attention, processing speed, and cognitive control. Cerebral images are recorded using a 7 Tesla MRI to assess blood-brain barrier integrity, perfusion, blood flow, functional and structural networks, and anatomical dimensions. Cardiac images are recorded using a 3 Tesla MRI to assess cardiac perfusion, strain, dimensions, mass, and degree of fibrosis. We assess the effect of a history of pre-eclampsia using multivariable regression analyses.
    Ethics and dissemination: This study is approved by the Ethics Committee of Maastricht University Medical Centre (METC azM/UM, NL47252.068.14). Knowledge dissemination will include scientific publications, presentations at conferences and public forums, and social media.
    Trial registration number: NCT02347540.
    MeSH term(s) Female ; Humans ; Pregnancy ; Cognition ; Cross-Sectional Studies ; Myocardium ; Pilot Projects ; Pre-Eclampsia
    Language English
    Publishing date 2024-03-04
    Publishing country England
    Document type Clinical Trial Protocol ; Journal Article
    ZDB-ID 2599832-8
    ISSN 2044-6055 ; 2044-6055
    ISSN (online) 2044-6055
    ISSN 2044-6055
    DOI 10.1136/bmjopen-2023-077534
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Faecal metabolome and its determinants in inflammatory bowel disease.

    Vich Vila, Arnau / Hu, Shixian / Andreu-Sánchez, Sergio / Collij, Valerie / Jansen, Bernadien H / Augustijn, Hannah E / Bolte, Laura A / Ruigrok, Renate A A A / Abu-Ali, Galeb / Giallourakis, Cosmas / Schneider, Jessica / Parkinson, John / Al-Garawi, Amal / Zhernakova, Alexandra / Gacesa, Ranko / Fu, Jingyuan / Weersma, Rinse K

    Gut

    2023  Volume 72, Issue 8, Page(s) 1472–1485

    Abstract: Objective: Inflammatory bowel disease (IBD) is a multifactorial immune-mediated inflammatory disease of the intestine, comprising Crohn's disease and ulcerative colitis. By characterising metabolites in faeces, combined with faecal metagenomics, host ... ...

    Abstract Objective: Inflammatory bowel disease (IBD) is a multifactorial immune-mediated inflammatory disease of the intestine, comprising Crohn's disease and ulcerative colitis. By characterising metabolites in faeces, combined with faecal metagenomics, host genetics and clinical characteristics, we aimed to unravel metabolic alterations in IBD.
    Design: We measured 1684 different faecal metabolites and 8 short-chain and branched-chain fatty acids in stool samples of 424 patients with IBD and 255 non-IBD controls. Regression analyses were used to compare concentrations of metabolites between cases and controls and determine the relationship between metabolites and each participant's lifestyle, clinical characteristics and gut microbiota composition. Moreover, genome-wide association analysis was conducted on faecal metabolite levels.
    Results: We identified over 300 molecules that were differentially abundant in the faeces of patients with IBD. The ratio between a sphingolipid and L-urobilin could discriminate between IBD and non-IBD samples (AUC=0.85). We found changes in the bile acid pool in patients with dysbiotic microbial communities and a strong association between faecal metabolome and gut microbiota. For example, the abundance of
    Conclusion: In this large-scale analysis, we identified alterations in the metabolome of patients with IBD that are independent of commonly overlooked confounders such as diet and surgical history. Considering the influence of the microbiome on faecal metabolites, our results pave the way for future interventions targeting intestinal inflammation.
    MeSH term(s) Humans ; Genome-Wide Association Study ; Inflammatory Bowel Diseases/metabolism ; Colitis, Ulcerative/metabolism ; Metabolome ; Feces ; Arylamine N-Acetyltransferase/metabolism
    Chemical Substances NAT2 protein, human (EC 2.3.1.5) ; Arylamine N-Acetyltransferase (EC 2.3.1.5)
    Language English
    Publishing date 2023-03-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 80128-8
    ISSN 1468-3288 ; 0017-5749
    ISSN (online) 1468-3288
    ISSN 0017-5749
    DOI 10.1136/gutjnl-2022-328048
    Database MEDical Literature Analysis and Retrieval System OnLINE

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