keyword
https://read.qxmd.com/read/38498110/prenatal-phenotype-of-a-homozygous-nonsense-mpdz-variant-in-a-fetus-with-severe-congenital-hydrocephalus
#21
JOURNAL ARTICLE
Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
The fetal phenotype of MPDZ-associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior...
March 18, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38497053/long-term-continuous-instrumented-insole-based-gait-analyses-in-daily-life-have-advantages-over-longitudinal-gait-analyses-in-the-lab-to-monitor-healing-of-tibial-fractures
#22
JOURNAL ARTICLE
Elke Warmerdam, Christian Wolff, Marcel Orth, Tim Pohlemann, Bergita Ganse
Introduction: Monitoring changes in gait during rehabilitation allows early detection of complications. Laboratory-based gait analyses proved valuable for longitudinal monitoring of lower leg fracture healing. However, continuous gait data recorded in the daily life may be superior due to a higher temporal resolution and differences in behavior. In this study, ground reaction force-based gait data of instrumented insoles from longitudinal intermittent laboratory assessments were compared to monitoring in daily life...
2024: Frontiers in Bioengineering and Biotechnology
https://read.qxmd.com/read/38492237/a-tomato-b-box-protein-regulates-plant-development-and-fruit-quality-through-the-interaction-with-pif4-hy5-and-rin-transcription-factors
#23
JOURNAL ARTICLE
Lumi Shiose, Juliene Dos Reis Moreira, Bruno Silvestre Lira, Gabriel Ponciano, Gabriel Gomez Ocampo, Raquel Tsu Ay Wu, José Laurindo Dos Santos Júnior, Nikolaos Ntelkis, Elke Clicque, Maria José Oliveira, Greice Lubini, Eny Iochevet Segal Floh, Javier Francisco Botto, Marcelo José Pena Ferreira, Alain Goossens, Luciano Freschi, Magdalena Rossi
During the last decade, the knowledge about BBX proteins has abruptly increased. Genome-wide studies identified BBX gene family in several ornamental, industry and food crops; however, the reports regarding the role of these genes as regulators of agronomically important traits are scarce. Here, by phenotyping a knockout mutant, we performed a comprehensive functional characterization of the tomato locus Solyc12g089240, hereafter called SlBBX20. The data revealed the encoded protein as a positive regulator of light signaling affecting several physiological processes during plant lifespan...
March 16, 2024: Journal of Experimental Botany
https://read.qxmd.com/read/38490766/providing-hematopoietic-stem-cell-products-from-unrelated-donors-to-the-world-dkms-donor-centers-and-dkms-registry
#24
REVIEW
Alexander H Schmidt, Jürgen Sauter, Johannes Schetelig, Elke Neujahr, Julia Pingel
Allogeneic hematopoietic stem cell (HSC) transplantation is a curative therapy for many severe blood diseases. As many patients have no suitable family donor, large unrelated donor registries and donor centers have been established in many countries, along with an international system for the provision of unrelated donor HSC products. As an essential part of this system, DKMS operates donor centers in 7 countries with a total of 12.2 million donors and over 114,000 donations so far, and a multinational donor registry...
March 2024: Best Practice & Research. Clinical Haematology
https://read.qxmd.com/read/38490194/first-in-class-mkk4-inhibitors-enhance-liver-regeneration-and-prevent-liver-failure
#25
JOURNAL ARTICLE
Stefan Zwirner, Anan A Abu Rmilah, Sabrina Klotz, Bent Pfaffenroth, Philip Kloevekorn, Athina A Moschopoulou, Svenja Schuette, Mathias Haag, Roland Selig, Kewei Li, Wei Zhou, Erek Nelson, Antti Poso, Harvey Chen, Bruce Amiot, Yao Jia, Anna Minshew, Gregory Michalak, Wei Cui, Elke Rist, Thomas Longerich, Birgit Jung, Philipp Felgendreff, Omelyan Trompak, Prem K Premsrirut, Katharina Gries, Thomas E Muerdter, Georg Heinkele, Torsten Wuestefeld, David Shapiro, Markus Weissbach, Alfred Koenigsrainer, Bence Sipos, Eiso Ab, Magdalena Ortiz Zacarias, Stephan Theisgen, Nicole Gruenheit, Saskia Biskup, Matthias Schwab, Wolfgang Albrecht, Stefan Laufer, Scott Nyberg, Lars Zender
Diminished hepatocyte regeneration is a key feature of acute and chronic liver diseases and after extended liver resections, resulting in the inability to maintain or restore a sufficient functional liver mass. Therapies to restore hepatocyte regeneration are lacking, making liver transplantation the only curative option for end-stage liver disease. Here, we report on the structure-based development and characterization (nuclear magnetic resonance [NMR] spectroscopy) of first-in-class small molecule inhibitors of the dual-specificity kinase MKK4 (MKK4i)...
March 8, 2024: Cell
https://read.qxmd.com/read/38489031/editorial-to-special-issue-the-power-of-immunoprofiling-supported-by-computational-data-integration-and-machine-learning
#26
EDITORIAL
Elke Bergmann-Leitner
No abstract text is available yet for this article.
December 31, 2024: Human Vaccines & Immunotherapeutics
https://read.qxmd.com/read/38487018/distinct-gabaergic-modulation-of-timing-dependent-ltp-in-ca1-pyramidal-neurons-along-the-longitudinal-axis-of-the-mouse-hippocampus
#27
JOURNAL ARTICLE
Babak Khodaie, Elke Edelmann, Volkmar Leßmann
Synaptic plasticity in the hippocampus underlies episodic memory formation, with dorsal hippocampus being instrumental for spatial memory whereas ventral hippocampus is crucial for emotional learning. Here, we studied how GABAergic inhibition regulates physiologically relevant low repeat spike timing-dependent LTP (t-LTP) at Schaffer collateral-CA1 synapses along the dorsoventral hippocampal axis. We used two t-LTP protocols relying on only 6 repeats of paired spike-firing in pre- and postsynaptic cells within 10 s that differ in postsynaptic firing patterns...
March 15, 2024: IScience
https://read.qxmd.com/read/38486289/advancing-material-property-prediction-using-physics-informed-machine-learning-models-for-viscosity
#28
JOURNAL ARTICLE
Alex K Chew, Matthew Sender, Zachary Kaplan, Anand Chandrasekaran, Jackson Chief Elk, Andrea R Browning, H Shaun Kwak, Mathew D Halls, Mohammad Atif Faiz Afzal
In materials science, accurately computing properties like viscosity, melting point, and glass transition temperatures solely through physics-based models is challenging. Data-driven machine learning (ML) also poses challenges in constructing ML models, especially in the material science domain where data is limited. To address this, we integrate physics-informed descriptors from molecular dynamics (MD) simulations to enhance the accuracy and interpretability of ML models. Our current study focuses on accurately predicting viscosity in liquid systems using MD descriptors...
March 14, 2024: Journal of Cheminformatics
https://read.qxmd.com/read/38485849/science-and-risk-based-stability-strategies-to-support-product-lifecycle-changes
#29
JOURNAL ARTICLE
Lori McCaig, Steven Nowak, Alexander Abbott, Jenny Carhart, Megan E McMahon, Elke Debie, Hanlin Li, Francis Maina, Andrea J Ji, Mingkun Fu, Yan Wu, Andrew Lennard, Tony Mazzeo, Chad Wolfe, Robert Timpano, Yelizaveta Babayan, Lars Gruenig
ICH Q12 asserts that science- and risk-based approaches are applicable to stability studies supporting Chemistry, Manufacturing and Controls (CMC) post-approval changes (PAC) to enable more timely implementation; however, no guidance or specific examples are provided to demonstrate how prior knowledge of the product can inform the risk assessment for the proposed change(s). Ten diverse case studies are presented in this manuscript to demonstrate how science- and risk-based stability strategies were used to support drug substance and product CMC PAC and lifecycle management activities...
March 14, 2024: AAPS Journal
https://read.qxmd.com/read/38481963/modifying-tacrolimus-related-toxicity-after-liver-transplantation-comparing-life-cycle-pharma-tacrolimus-versus-extended-released-tacrolimus-a-multicenter-randomized-controlled-trial
#30
JOURNAL ARTICLE
Midas B Mulder, Bart van Hoek, Wojtek G Polak, Ian P J Alwayn, Brenda C M de Winter, Sarwa Darwish Murad, Elke Verhey-Hart, Lara Elshove, Nicole S Erler, Dennis A Hesselink, Caroline M den Hoed, Herold J Metselaar
BACKGROUND: The aim of this open-label, multicenter, randomized controlled study was to investigate whether the life cycle pharma (LCP)-tacrolimus compared with the extended-release (ER)-tacrolimus formulation results in a difference in the prevalence of posttransplant diabetes, hypertension and chronic kidney disease (CKD) at 12 mo after liver transplantation. METHODS: Patients were 1:1 randomized to either of the 2 tacrolimus formulations. The primary endpoint was defined as a composite endpoint of any of 3 events: sustained (>3 mo postrandomization) posttransplant diabetes, new-onset hypertension, and/or CKD, defined as estimated glomerular filtration rate <60 mL/min/1...
April 2024: Transplantation Direct
https://read.qxmd.com/read/38478227/isolation-of-murine-adipose-derived-stromal-stem-cells-for-adipogenic-and-osteogenic-differentiation-or-flow-cytometry-based-analysis
#31
JOURNAL ARTICLE
Matthew C Scott, Chul-Hong Park, Marilyn Dietrich, Xiying Wu, Jeffrey M Gimble, Carrie M Elks, Ji Suk Chang, Z Elizabeth Floyd
Murine models of obesity or reduced adiposity are a valuable resource for understanding the role of adipocyte dysfunction in metabolic disorders. Adipose tissue stromal vascular cells or primary adipocytes derived from murine adipose tissue and grown in culture are essential tools for studying the mechanisms underlying adipocyte development and function. Herein, we describe methods for the isolation, expansion, and long-term storage of murine adipose-derived stromal/stem cells, along with protocols for inducing adipogenesis to white or beige adipocytes in this cell population and osteogenic differentiation...
2024: Methods in Molecular Biology
https://read.qxmd.com/read/38472833/quantitative-nmr-spectrometry-of-phenylpropanoids-including-isoeugenol-in-herbs-spices-and-essential-oils
#32
JOURNAL ARTICLE
Pascal Fabry, Sandra Weber, Jan Teipel, Elke Richling, Stephan G Walch, Dirk W Lachenmeier
Isoeugenol (2-methoxy-4-(1-propenyl)phenol) has been recently classified as possibly carcinogenic to humans (Group 2B) by the International Agency for Research on Cancer (IARC). This study conducted an analysis of isoeugenol in common herbs and spices, including basil, cinnamon, ginger, and nutmeg, using 1 H nuclear magnetic resonance (NMR) spectrometry. Additionally, over 1300 coffee samples were analysed by 1 H-NMR for isoeugenol, but it was not detected in any of the analysed samples. Various essential oils, including nutmeg, basil, clove, sweet flag, and ylang-ylang oils, were examined for isoeugenol content...
February 27, 2024: Foods (Basel, Switzerland)
https://read.qxmd.com/read/38472649/liprin-%C3%AE-proteins-are-master-regulators-of-human-presynapse-assembly
#33
JOURNAL ARTICLE
Berta Marcó de la Cruz, Joaquín Campos, Angela Molinaro, Xingqiao Xie, Gaowei Jin, Zhiyi Wei, Claudio Acuna, Fredrik H Sterky
The formation of mammalian synapses entails the precise alignment of presynaptic release sites with postsynaptic receptors but how nascent cell-cell contacts translate into assembly of presynaptic specializations remains unclear. Guided by pioneering work in invertebrates, we hypothesized that in mammalian synapses, liprin-α proteins directly link trans-synaptic initial contacts to downstream steps. Here we show that, in human neurons lacking all four liprin-α isoforms, nascent synaptic contacts are formed but recruitment of active zone components and accumulation of synaptic vesicles is blocked, resulting in 'empty' boutons and loss of synaptic transmission...
March 12, 2024: Nature Neuroscience
https://read.qxmd.com/read/38472610/when-will-the-glomerular-filtration-rate-in-former-preterm-neonates-catch-up-with-their-term-peers
#34
JOURNAL ARTICLE
Yunjiao Wu, Karel Allegaert, Robert B Flint, Sebastiaan C Goulooze, Pyry A J Välitalo, Matthijs de Hoog, Hussain Mulla, Catherine M T Sherwin, Sinno H P Simons, Elke H J Krekels, Catherijne A J Knibbe, Swantje Völler
AIMS: Whether and when glomerular filtration rate (GFR) in preterms catches up with term peers is unknown. This study aims to develop a GFR maturation model for (pre)term-born individuals from birth to 18 years of age. Secondarily, the function is applied to data of different renally excreted drugs. METHODS: We combined published inulin clearance values and serum creatinine (Scr) concentrations in (pre)term born individuals throughout childhood. Inulin clearance was assumed to be equal to GFR, and Scr to reflect creatinine synthesis rate/GFR...
March 12, 2024: Pharmaceutical Research
https://read.qxmd.com/read/38471626/what-can-we-learn-about-fish-neutrophil-and-macrophage-response-to-immune-challenge-from-studies-in-zebrafish
#35
JOURNAL ARTICLE
Zoë C Speirs, Catherine A Loynes, Heidi Mathiessen, Philip M Elks, Stephen A Renshaw, Louise von Gersdorff Jørgensen
Fish rely, to a high degree, on the innate immune system to protect them against the constant exposure to potential pathogenic invasion from the surrounding water during homeostasis and injury. Zebrafish larvae have emerged as an outstanding model organism for immunity. The cellular component of zebrafish innate immunity is similar to the mammalian innate immune system and has a high degree of sophistication due to the needs of living in an aquatic environment from early embryonic stages of life. Innate immune cells (leukocytes), including neutrophils and macrophages, have major roles in protecting zebrafish against pathogens, as well as being essential for proper wound healing and regeneration...
March 10, 2024: Fish & Shellfish Immunology
https://read.qxmd.com/read/38470272/nasal-delivery-of-haemophilus-haemolyticus-is-safe-reduces-influenza-severity-and-prevents-development-of-otitis-media-in-mice
#36
JOURNAL ARTICLE
Naomi Scott, Kelly M Martinovich, Caitlyn M Granland, Elke J Seppanen, M Christian Tjiam, Camilla de Gier, Edison Foo, Kirsty R Short, Keng Yih Chew, Alma Fulurija, Deborah H Strickland, Peter C Richmond, Lea-Ann S Kirkham
BACKGROUND: Despite vaccination, influenza and otitis media (OM) remain leading causes of illness. We previously found that the human respiratory commensal Haemophilus haemolyticus prevents bacterial infection in vitro and that the related murine commensal Muribacter muris delays OM development in mice. The observation that M muris pretreatment reduced lung influenza titer and inflammation suggests that these bacteria could be exploited for protection against influenza/OM. METHODS: Safety and efficacy of intranasal H haemolyticus at 5 × 107 colony-forming units (CFU) was tested in female BALB/cARC mice using an influenza model and influenza-driven nontypeable Haemophilus influenzae (NTHi) OM model...
March 12, 2024: Journal of Infectious Diseases
https://read.qxmd.com/read/38469793/biallelic-usp14-variants-cause-a-syndromic-neurodevelopmental-disorder
#37
JOURNAL ARTICLE
Frédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, Miguel A Prado, Byung-Hoon Lee, Sophie Möller, Martin Wendlandt, Barbara A Zieba, Laëtitia Florenceau, Virginie Vignard, Léa Poirier, Bérénice Toutain, Isabella Moroni, Charlotte Dubucs, Nicolas Chassaing, Judit Horvath, Holger Prokisch, Sébastien Küry, Stéphane Bézieau, Joao A Paulo, Daniel Finley, Elke Krüger, Daniele Ghezzi, Bertrand Isidor
PURPOSE: Imbalances in protein homeostasis affect human brain development, with the ubiquitin-proteasome system (UPS) and autophagy playing crucial roles in neurodevelopmental disorders (NDD). This study explores the impact of biallelic USP14 variants on neurodevelopment, focusing on its role as a key hub connecting UPS and autophagy. METHODS: Here, we identified biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease...
March 9, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38466087/challenges-limitations-and-pitfalls-of-pet-and-advanced-mri-in-patients-with-brain-tumors-a-report-of-the-pet-rano-group
#38
JOURNAL ARTICLE
Norbert Galldiks, Timothy J Kaufmann, Philipp Vollmuth, Philipp Lohmann, Marion Smits, Michael C Veronesi, Karl-Josef Langen, Roberta Rudá, Nathalie L Albert, Elke Hattingen, Ian Law, Markus Hutterer, Riccardo Soffietti, Michael A Vogelbaum, Patrick Y Wen, Michael Weller, Joerg-Christian Tonn
Brain tumor diagnostics have significantly evolved with the use of PET and advanced MRI techniques. In addition to anatomical MRI, these modalities may provide valuable information for several clinical applications such as differential diagnosis, delineation of tumor extent, prognostication, differentiation between tumor relapse and treatment-related changes, and the evaluation of response to anticancer therapy. In particular, joint recommendations of the RANO group, the EANO, and major European and American Nuclear Medicine societies highlighted that the additional clinical value of radiolabeled amino acids compared to anatomical MRI alone is outstanding and that its widespread clinical use should be supported...
March 11, 2024: Neuro-oncology
https://read.qxmd.com/read/38465576/a-recurrent-missense-variant-in-the-e3-ubiquitin-ligase-substrate-recognition-subunit-fem1b-causes-a-rare-syndromic-neurodevelopmental-disorder
#39
JOURNAL ARTICLE
François Lecoquierre, A Mattijs Punt, Frédéric Ebstein, Ilse Wallaard, Rob Verhagen, Maja Studencka-Turski, Yannis Duffourd, Sébastien Moutton, Frédédic Tran Mau-Them, Christophe Philippe, John Dean, Stephen Tennant, Alice S Brooks, Marjon A van Slegtenhorst, Julie A Jurgens, Brenda J Barry, Wai-Man Chan, Eleina M England, Mayra Martinez Ojeda, Elizabeth C Engle, Caroline D Robson, Michelle Morrow, A Micheil Innes, Ryan Lamont, Matthea Sanderson, Elke Krüger, Christel Thauvin, Ben Distel, Laurence Faivre, Ype Elgersma, Antonio Vitobello
PURPOSE: FEM1B acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CRL2 E3 family. Several biological functions have been proposed for FEM1B, including a structurally resolved function as a sensor for redox cell status by controlling mitochondrial activity, but its implication in human disease remains elusive. METHODS: To understand the involvement of FEM1B in human disease, we made use of Matchmaker exchange platforms to identify individuals with de novo variants in FEM1B and performed their clinical evaluation...
March 7, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38464513/immunogenicity-at-delivery-after-tdap-vaccination-in-successive-pregnancies
#40
JOURNAL ARTICLE
Louise De Weerdt, Anaïs Thiriard, Elke Leuridan, Arnaud Marchant, Kirsten Maertens
BACKGROUND: Tetanus, diphtheria, acellular pertussis (Tdap) vaccination is recommended to be administered in every pregnancy. Although the safety of this strategy has been confirmed, the immunogenicity of Tdap vaccination in two successive pregnancies has not yet been described. This study investigated Tdap-specific immunity levels and transplacental transfer in two successive pregnancies after repeated Tdap-vaccination. METHODS: Women enrolled in prior studies on Tdap vaccination during pregnancy were invited to participate in a follow-up study if they became pregnant again...
2024: Frontiers in Immunology
keyword
keyword
170545
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.