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Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patients.
Florencia AT Boshier, Juanita Pang, Justin Penner, Matthew Parker, Nele Alders, Alasdair Bamford, Louis Grandjean, Stephanie Grunewald, James Hatcher, Timothy Best, Caroline Dalton, Patricia Dyal Bynoe, Claire Frauenfelder, Jutta Köeglmeier, Phoebe Myerson, Sunando Roy, Rachel Williams, Thushan I de Silva, Richard A Goldstein, Judith Breuer, COVID-19 Genomics UK (COG-UK) Consortium
Sep 05, 2021
SARS-CoV-2 intrahost Remdesivir viral-variants Adenosine Monophosphate Adolescent Alanine Antiviral Agents covid-19 Child Child Preschool Drug Resistance Viral evolution Molecular Female Haplotypes Humans Infant Lung Male Phylogeny RNA Viral SARS-CoV-2 Viral Load Virus Replication COVID-19 Drug Treatment
Signal strength controls the rate of polarization within CTLs during killing.
Gordon L Frazer, Christian M Gawden-Bone, Nele MG Dieckmann, Yukako Asano, Gillian M Griffiths
Jun 23, 2021
Cytotoxic T lymphocytes (CTLs) are key effector cells in the immune response against viruses and cancers, killing targets with high precision. Target cell recognition by CTL triggers rapid polarization of intracellular...
Fas Ligand localizes to intraluminal vesicles within NK cell cytolytic granules and is enriched at the immune synapse.
INTRODUCTION: T cell and NK cell cytotoxicity can be mediated via the perforin/granzyme system and Fas Ligand (FasL, CD178). FasL is synthesized as a type II transmembrane protein that binds its cognate receptor Fas (CD95)....
Symptom appraisal in uncertainty
Lauren C. Heathcote, Nele Loecher, Pamela Simon, Sheri Spunt, Abbie Jordan, Perri Tutelman, Sarah Cunningham, Lidia Schapira, Laura Simons
Dec 31, 2021
Objective: Somatic symptoms capture attention, demand interpretation, and promote health behaviors. Symptom appraisal is particularly impactful within uncertain health contexts such as cancer survivorship. Yet, little is known...
The cytotoxic T lymphocyte immune synapse at a glance.
Nele MG Dieckmann, Gordon L Frazer, Yukako Asano, Jane C Stinchcombe, Gillian M Griffiths
Sep 26, 2018
The immune synapse provides an important structure for communication with immune cells. Studies on immune synapses formed by cytotoxic T lymphocytes (CTLs) highlight the dynamic changes and specialised mechanisms required to...
Symptom appraisal in uncertainty
Lauren C. Heathcote, Nele Loecher, Pamela Simon, Sheri Spunt, Abbie Jordan, Perri Tutelman, Sarah Cunningham, Lidia Schapira, Laura Simons
Dec 31, 2021
Objective: Somatic symptoms capture attention, demand interpretation, and promote health behaviors. Symptom appraisal is particularly impactful within uncertain health contexts such as cancer survivorship. Yet, little is known...
“You don’t accept he’s completely ok”
Nele Loecher, Abbie Jordan, Sheri L. Spunt, Pamela Simon, Laura E. Simons, Gary Dahl, Kristin Kosyluk, Lauren Heathcote
Jun 30, 2024
Objectives/purpose: Childhood cancer survival brings continued mental and physical health challenges both for the child and for the family. In this study, we investigated how parents viewed their roles in their child’s health...
Adolescents and young adult Childhood Cancer Parent perspectives Survivorship /dk/atira/pure/subjectarea/asjc/2900/2917 name=Oncology(nursing) /dk/atira/pure/subjectarea/asjc/2700/2730 name=Oncology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
“You don’t accept he’s completely ok”
Nele Loecher, Abbie Jordan, Sheri L. Spunt, Pamela Simon, Laura E. Simons, Gary Dahl, Kristin Kosyluk, Lauren Heathcote
Jun 30, 2024
Objectives/purpose: Childhood cancer survival brings continued mental and physical health challenges both for the child and for the family. In this study, we investigated how parents viewed their roles in their child’s health...
Adolescents and young adult Childhood Cancer Parent perspectives Survivorship /dk/atira/pure/subjectarea/asjc/2900/2917 name=Oncology(nursing) /dk/atira/pure/subjectarea/asjc/2700/2730 name=Oncology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
Comprehensive metabolic profiling of chronic low-grade inflammation among generally healthy individuals.
Maik Pietzner, Anne Kaul, Ann-Kristin Henning, Gabi Kastenmüller, Anna Artati, Markus M Lerch, Jerzy Adamski, Matthias Nauck, Nele Friedrich
Nov 16, 2020
BACKGROUND: Inflammation occurs as an immediate protective response of the immune system to a harmful stimulus, whether locally confined or systemic. In contrast, a persisting, i.e., chronic, inflammatory state, even at a...
C-Reactive Protein Fibrinogen Inflammation Mass Spectrometry Metabolomics nuclear magnetic resonance spectroscopy White blood cell count Adult Atherosclerosis Biomarkers C-Reactive Protein Cardiovascular Diseases Female Humans Inflammation Inflammation Mediators Male Mass Spectrometry Metabolomics Middle Aged Nuclear Magnetic Resonance Biomolecular Risk Factors
Addressing the need for standardization of test methods for self-healing concrete
Tim Van Mullem, Giovanni Anglani, Marta Dudek, Hanne Vanoutrive, Girts Bumanis, Chrysoula Litina, Arkadiusz Kwiecień, Abir Al-Tabbaa, Diana Bajare, Teresa Stryszewska, Robby Caspeele, Kim Van Tittelboom, Tulliani Jean-Marc, Elke Gruyaert, Paola Antonaci, Nele De Belie
Jul 21, 2021
Development and commercialization of self-healing concrete is hampered due to a lack of standardized test methods. Six inter-laboratory testing programs are being executed by the EU COST action SARCOS, each focusing on test...
Reducing Uncertainties in Carbonate Clumped Isotope Analysis Through Consistent Carbonate-Based Standardization.
Acute procedural efficacy and safety of a novel cryoballoon for the treatment of paroxysmal atrial fibrillation
Claire A Martin, Roland RR Tilz, Ante Anic, Pascal Defaye, Armin Luik, Carlo de Asmundis, Laure Champ-Rigot, Saverio Iacopino, Philipp Sommer, Elizabeth M Albrecht, Jonathan D Raybuck, Elizabeth Richards, Nele Cielen, Sing-Chien Yap, POLAR ICE Investigators
Feb 23, 2023
INTRODUCTION: Pulmonary vein isolation (PVI) is well established as a primary treatment for atrial fibrillation (AF). The POLAR ICE study was designed to collect prospective real world data on the safety and effectiveness of the...
A Thyroid Hormone-Independent Molecular Fingerprint of 3,5-Diiodothyronine Suggests a Strong Relationship with Coffee Metabolism in Humans.
Maik Pietzner, Josef Köhrle, Ina Lehmphul, Kathrin Budde, Gabi Kastenmüller, Georg Brabant, Henry Völzke, Anna Artati, Jerzy Adamski, Uwe Völker, Matthias Nauck, Nele Friedrich, Georg Homuth
Jan 10, 2020
Background: In numerous studies based predominantly on rodent models, administration of 3,5-diiodo-L-thyronine (3,5-T2), a metabolite of the thyroid hormones (TH) thyroxine (T4) and triiodo-L-thyronine (T3), was reported to...
3 5-diiodothyronine caffeine metabolism Metabolomics Thyroid thyrotoxicosis Adult caffeine Coffee DNA Fingerprinting Diiodothyronines Female Healthy Volunteers Humans Magnetic Resonance Spectroscopy Male Mass Spectrometry Metabolomics Middle Aged Reference Values Thyroid Function Tests Thyroid Hormones Thyrotoxicosis Thyrotropin Thyroxine
Metabolomic profiling identifies novel associations with Electrolyte and Acid-Base Homeostatic patterns.
Cristina Menni, Linsay McCallum, Maik Pietzner, Jonas Zierer, Alisha Aman, Karsten Suhre, Robert P Mohney, Massimo Mangino, Nele Friedrich, Tim D Spector, Sandosh Padmanabhan
Feb 18, 2020
The tubercular badger and the uncertain curve
Carmel Mothersill, Michael Abend, Francois Bréchignac, David Copplestone, Stanislav Geras'kin, Jessica Goodman, Nele Horemans, Penny Jeggo, William McBride, Timothy A Mousseau, Anthony O'Hare, Rao VL Papineni, Gibin Powathil, Paul N Schofield, Colin Seymour, Jill Sutcliffe, Brian Austin
Nov 20, 2018
Plasma proteome and metabolome characterization of an experimental human thyrotoxicosis model.
Maik Pietzner, Beatrice Engelmann, Tim Kacprowski, Janine Golchert, Anna-Luise Dirk, Elke Hammer, K Alexander Iwen, Matthias Nauck, Henri Wallaschofski, Dagmar Führer, Thomas F Münte, Nele Friedrich, Uwe Völker, Georg Homuth, Georg Brabant
Nov 16, 2020
BACKGROUND: Determinations of thyrotropin (TSH) and free thyroxine (FT4) represent the gold standard in evaluation of thyroid function. To screen for novel peripheral biomarkers of thyroid function and to characterize...
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
Amelia Lane, Katarina Jovanovic, Ciara Shortall, Daniele Ottaviani, Anna Brugulat-Panes, Nele Schwarz, Rosellina Guarascio, Matthew J Hayes, Arpad Palfi, Naomi Chadderton, G Jane Farrar, Alison J Hardcastle, Michael E Cheetham
Jul 07, 2020
RP2 mutations cause a severe form of X-linked retinitis pigmentosa (XLRP). The mechanism of RP2-associated retinal degeneration in humans is unclear, and animal models of RP2 XLRP do not recapitulate this severe phenotype. Here...
AAV CRISPR gene editing Cell Death Disease Modeling gene therapy Genetic inherited disease Retinal Degeneration retinal organoid stem cell Cell Death Cell Survival Dependovirus GTP-Binding Proteins Gene Expression Regulation Gene Knockdown Techniques Humans Induced Pluripotent Stem Cells Membrane Proteins Models Biological Organoids Retina Retinal Rod Photoreceptor Cells Retinitis Pigmentosa
Using genetic variation to disentangle the complex relationship between food intake and health outcomes.
Nicola Pirastu, Ciara McDonnell, Eryk J Grzeszkowiak, Ninon Mounier, Fumiaki Imamura, Jordi Merino, Felix Day, Jie Zheng, Nele Taba, Maria Pina Concas, Linda Repetto, Katherine Kentistou, Antonietta Robino, Tõnu Esko, Peter K Joshi, Krista Fischer, Kenneth Ong, Tom R Gaunt, Zoltán Kutalik, John RB Perry, James F Wilson
Jun 07, 2022
Diet is considered as one of the most important modifiable factors influencing human health, but efforts to identify foods or dietary patterns associated with health outcomes often suffer from biases, confounding, and reverse...
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Anna R Duncan, Antonio Vitobello, Stephan C Collins, Valerie E Vancollie, Christopher J Lelliott, Lance Rodan, Jiahai Shi, Ann R Seman, Emanuele Agolini, Antonio Novelli, Paolo Prontera, Maria J Guillen Sacoto, Teresa Santiago-Sim, Aurélien Trimouille, Cyril Goizet, Mathilde Nizon, Ange-Line Bruel, Christophe Philippe, Patricia E Grant, Monica H Wojcik, Joan Stoler, Casie A Genetti, Marieke F van Dooren, Saskia M Maas, Marielle Alders, Laurence Faivre, Arthur Sorlin, Grace Yoon, Binnaz Yalcin, Pankaj B Agrawal
Feb 10, 2021
KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene...
JMJD2B KDM4B Agenesis of the corpus callosum dysmorphic hippocampi global developmental delay heterozygous variant Intellectual Disability neurodevelopmental disorder Animals Brain Developmental Disabilities Epigenesis Genetic Female genetic variation Heterozygote Hippocampus Histones Humans Jumonji Domain-Containing Histone Demethylases Magnetic Resonance Imaging Male Methylation Mice Nervous System Malformations Protein Processing Post-Translational Seizures Signal Transduction
Using genetic variation to disentangle the complex relationship between food intake and health outcomes.
Nicola Pirastu, Ciara McDonnell, Eryk J Grzeszkowiak, Ninon Mounier, Fumiaki Imamura, Jordi Merino, Felix R Day, Jie Zheng, Nele Taba, Maria Pina Concas, Linda Repetto, Katherine A Kentistou, Antonietta Robino, Tõnu Esko, Peter K Joshi, Krista Fischer, Ken K Ong, Tom R Gaunt, Zoltán Kutalik, John RB Perry, James F Wilson
Jul 03, 2022
Diet is considered as one of the most important modifiable factors influencing human health, but efforts to identify foods or dietary patterns associated with health outcomes often suffer from biases, confounding, and reverse...
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud PJ Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire LS Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Mar 22, 2023
Association of alcohol consumption with allergic disease and asthma
Tea Skaaby, Tuomas O Kilpeläinen, Amy E Taylor, Yuvaraj Mahendran, Andrew Wong, Tarunveer S Ahluwalia, Lavinia Paternoster, Stella Trompet, David J Stott, Claudia Flexeder, Ang Zhou, Guy Brusselle, Ayesha Sajjad, Lies Lahousse, Henning Tiemeier, Christian Theil Have, Betina H Thuesen, Line Lund Kårhus, Line Tang Møllehave, Katja Biering Leth-Møller, Daniel Mønsted Shabanzadeh, Arturo Gonzalez-Quintela, Chris Power, Elina Hyppönen, Diana Kuh, Rebecca Hardy, Thomas Meitinger, J Wouter Jukema, Uwe Völker, Matthias Nauck, Henry Völzke, Nele Friedrich, Tobias N Bonten, Raymond Noordam, Dennis O Mook-Kanamori, Janne S Tolstrup, Christian Taube, Annette Peters, Harald Grallert, Konstantin Strauch, Holger Schulz, Niels Grarup, Torben Hansen, Oluf Pedersen, Stephen Burgess, Marcus R Munafò, Allan Linneberg
Nov 19, 2018
AIMS: To use the rs1229984 variant associated with alcohol consumption as an instrument for alcohol consumption to test the causality of the association of alcohol consumption with hay fever, asthma, allergic sensitization and...
Alcohol allergic disease allergic sensitization Asthma hay fever Mendelian randomization Adolescent Aged 80 and over Alcohol Dehydrogenase Alcohol Drinking Asthma Denmark Female Genotype Humans Hypersensitivity Immunoglobulin E Male Mendelian Randomization Analysis Respiratory Function Tests Rhinitis Allergic Seasonal Young Adult
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Daniel Greene, Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo Masuno, Takako Ohata, Helen Stewart, Khalid Taibah, Claire L S Turner, Faiqa Imtiaz, Saima Riazuddin, Takayuki Morisaki, Pia Ostergaard, Bart L Loeys, Hiroko Morisaki, Zubair M Ahmed, Graeme M Birdsey, Kathleen Freson, Andrew Mumford, Ernest Turro
Apr 17, 2023
The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an opportunity for discovering the unknown etiologies, but this depends on...
Humans Rare Diseases Membrane Proteins Bayes Theorem Genotype Phenotype Genome-Wide Association Study
Published by: Nature medicine
Psycho-social factors associated with mental resilience in the Corona lockdown.
Ilya M Veer, Antje Riepenhausen, Matthias Zerban, Carolin Wackerhagen, Lara MC Puhlmann, Haakon Engen, Göran Köber, Sophie A Bögemann, Jeroen Weermeijer, Aleksandra Uściłko, Netali Mor, Marta A Marciniak, Adrian Dahl Askelund, Abbas Al-Kamel, Sarah Ayash, Giulia Barsuola, Vaida Bartkute-Norkuniene, Simone Battaglia, Yaryna Bobko, Sven Bölte, Paolo Cardone, Edita Chvojková, Kaja Damnjanović, Joana De Calheiros Velozo, Lena de Thurah, Yacila I Deza-Araujo, Annika Dimitrov, Kinga Farkas, Clémence Feller, Mary Gazea, Donya Gilan, Vedrana Gnjidić, Michal Hajduk, Anu P Hiekkaranta, Live S Hofgaard, Laura Ilen, Zuzana Kasanova, Mohsen Khanpour, Bobo Hi Po Lau, Dionne B Lenferink, Thomas B Lindhardt, Dávid Á Magas, Julian Mituniewicz, Laura Moreno-López, Sofiia Muzychka, Maria Ntafouli, Aet O'Leary, Ilenia Paparella, Nele Põldver, Aki Rintala, Natalia Robak, Anna M Rosická, Espen Røysamb, Siavash Sadeghi, Maude Schneider, Roma Siugzdaite, Mirta Stantić, Ana Teixeira, Ana Todorovic, Wendy WN Wan, Rolf van Dick, Klaus Lieb, Birgit Kleim, Erno J Hermans, Dorota Kobylińska, Talma Hendler, Harald Binder, Inez Myin-Germeys, Judith MC van Leeuwen, Oliver Tüscher, Kenneth SL Yuen, Henrik Walter, Raffael Kalisch
Feb 05, 2021
The SARS-CoV-2 pandemic is not only a threat to physical health but is also having severe impacts on mental health. Although increases in stress-related symptomatology and other adverse psycho-social outcomes, as well as their...
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