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Analysis of Randomised Trials Including Multiple Births When Birth Size Is Informative.
Clustering generalised estimating equations informative cluster size multiple births statistical methodology Adult Female Fetal Growth Retardation Humans Infant Low Birth Weight Infant Newborn Infant Premature Male Population Surveillance Pregnancy Pregnancy Multiple premature birth Randomized Controlled Trials as Topic Reference Standards
A note on obtaining correct marginal predictions from a random intercepts model for binary outcomes.
BACKGROUND: Clustered data with binary outcomes are often analysed using random intercepts models or generalised estimating equations (GEE) resulting in cluster-specific or 'population-average' inference, respectively. METHODS...
Review of methods for handling confounding by cluster and informative cluster size in clustered data.
Clustered data are common in medical research. Typically, one is interested in a regression model for the association between an outcome and covariates. Two complications that can arise when analysing clustered data are...
Estimation of required sample size for external validation of risk models for binary outcomes
Menelaos Pavlou, Chen Qu, Rumana Z Omar, Shaun R Seaman, Ewout W Steyerberg, Ian R White, Gareth Ambler
Oct 13, 2021
Risk-prediction models for health outcomes are used in practice as part of clinical decision-making, and it is essential that their performance be externally validated. An important aspect in the design of a validation study is...
How to develop a more accurate risk prediction model when there are few events.
Menelaos Pavlou, Gareth Ambler, Shaun R Seaman, Oliver Guttmann, Perry Elliott, Michael King, Rumana Z Omar
Jun 14, 2018
When the number of events is low relative to the number of predictors, standard regression could produce overfitted risk models that make inaccurate predictions. Use of penalised regression may improve the accuracy of risk...
Estimation of required sample size for external validation of risk models for binary outcomes.
Menelaos Pavlou, Chen Qu, Rumana Z Omar, Shaun R Seaman, Ewout W Steyerberg, Ian R White, Gareth Ambler
Mar 18, 2021
Risk-prediction models for health outcomes are used in practice as part of clinical decision-making, and it is essential that their performance be externally validated. An important aspect in the design of a validation study is...
Attenuating Diabetic Vascular and Neuronal Defects by Targeting P2rx7.
Sofia Pavlou, Josy Augustine, Rónán Cunning, Kevin Harkin, Alan W Stitt, Heping Xu, Mei Chen
Jul 24, 2019
Retinal vascular and neuronal degeneration are established pathological features of diabetic retinopathy. Data suggest that defects in the neuroglial network precede the clinically recognisable vascular lesions in the retina....
3TC P2rx7 Diabetic Retinopathy retinal function Animals Biomarkers Diabetes mellitus Experimental Diabetic Retinopathy Electroretinography Fluorescent Antibody Technique Gene Expression Immunohistochemistry Lamivudine Male Mice Purinergic P2X Receptor Antagonists Receptors Purinergic P2X7 Retinal Neurons Retinal Vessels Tomography Optical Coherence
EWI-2 Inhibits Cell-Cell Fusion at the HIV-1 Virological Presynapse.
Emily E Whitaker, Nicholas J Matheson, Sarah Perlee, Phillip B Munson, Menelaos Symeonides, Markus Thali
Dec 09, 2019
Cell-to-cell transfer of virus particles at the Env-dependent virological synapse (VS) is a highly efficient mode of HIV-1 transmission. While cell-cell fusion could be triggered at the VS, leading to the formation of syncytia...
IL-33 deficiency causes persistent inflammation and severe neurodegeneration in retinal detachment.
Josy Augustine, Sofia Pavlou, Imran Ali, Kevin Harkin, Ema Ozaki, Matthew Campbell, Alan W Stitt, Heping Xu, Mei Chen
Jan 20, 2020
BACKGROUND: Interleukin-33 (IL-33) belongs to the IL-1 cytokine family and resides in the nuclei of various cell types. In the neural retina, IL-33 is predominately expressed in Müller cells although its role in health and...
Folding of cohesin's coiled coil is important for Scc2/4-induced association with chromosomes.
Naomi J Petela, Andres Gonzalez Llamazares, Sarah Dixon, Bin Hu, Byung-Gil Lee, Jean Metson, Heekyo Seo, Antonio Ferrer-Harding, Menelaos Voulgaris, Thomas Gligoris, James Collier, Byung-Ha Oh, Jan Löwe, Kim A Nasmyth
Jul 28, 2021
Cohesin's association with and translocation along chromosomal DNAs depend on an ATP hydrolysis cycle driving the association and subsequent release of DNA. This involves DNA being 'clamped' by Scc2 and ATP-dependent engagement...
S. cerevisiae Chromosomes cryo-EM Folding Gene Expression molecular biophysics sister chromatid cohesion structural biology Adenosine Triphosphatases Cell Cycle Proteins Chromatids Chromosomal Proteins Non-Histone Chromosomes Cryoelectron Microscopy DNA Dimerization Gene Expression Regulation Fungal Hydrolysis Protein Domains Saccharomyces cerevisiae Saccharomyces cerevisiae Proteins
Transport of DNA within cohesin involves clamping on top of engaged heads by Scc2 and entrapment within the ring by Scc3.
James E Collier, Byung-Gil Lee, Maurici Brunet Roig, Stanislav Yatskevich, Naomi J Petela, Jean Metson, Menelaos Voulgaris, Andres Gonzalez Llamazares, Jan Löwe, Kim A Nasmyth
Sep 16, 2020
In addition to extruding DNA loops, cohesin entraps within its SMC-kleisin ring (S-K) individual DNAs during G1 and sister DNAs during S-phase. All three activities require related hook-shaped proteins called Scc2 and Scc3....
CRISPR-Cas9 genetic screen leads to the discovery of L-Moses, a KAT2B inhibitor that attenuates Tunicamycin-mediated neuronal cell death.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly
Mar 12, 2020
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause...
Chronic Cough Sensory Neuropathy Rfc1 Repeat Expansion Cerebellar Ataxia neuropathy Vestibular Areflexia Syndrome (Canvas)
Published by: Brain : a journal of neurology
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Pereon, Cecile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curro, Pedro J Tomaselli, Gilbert Thomas-Black, Roisin Sullivan, Stephanie Efthymiou, Alexander M Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James Polke, Diego Kaski, Rita Horvath, Patrick F Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel Laing, Richard H Roxburgh, Henry Houlden, Mary M Reilly
Apr 21, 2020
Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause...
Rfc1 Cerebellar Ataxia neuropathy Vestibular Areflexia Syndrome (Canvas) Chronic Cough Repeat Expansion Sensory Neuropathy Aged Aged 80 and over ataxia Cerebellar Ataxia cerebellum Female Humans Male Middle Aged Neurologic Examination Peripheral Nervous System Diseases Reflex abnormal Sensation Disorders Syndrome Vestibular Neuronitis
Characterization Factors to Assess Land Use Impacts on Pollinator Abundance in Life Cycle Assessment.
Elizabeth M Alejandre, Laura Scherer, Jeroen B Guinée, Marcelo A Aizen, Matthias Albrecht, Mario V Balzan, Ignasi Bartomeus, Danilo Bevk, Laura A Burkle, Yann Clough, Lorna J Cole, Casey M Delphia, Lynn V Dicks, Michael PD Garratt, David Kleijn, Anikó Kovács-Hostyánszki, Yael Mandelik, Robert J Paxton, Theodora Petanidou, Simon Potts, Miklós Sárospataki, Catharina JE Schulp, Menelaos Stavrinides, Katharina Stein, Jane C Stout, Hajnalka Szentgyörgyi, Androulla I Varnava, Ben A Woodcock, Peter M van Bodegom
Mar 16, 2023
A critical analysis of the potential for EU Common Agricultural Policy measures to support wild pollinators on farmland.
Lorna J Cole, David Kleijn, Lynn V Dicks, Jane C Stout, Simon G Potts, Matthias Albrecht, Mario V Balzan, Ignasi Bartomeus, Penelope J Bebeli, Danilo Bevk, Jacobus C Biesmeijer, Róbert Chlebo, Anželika Dautartė, Nikolaos Emmanouil, Chris Hartfield, John M Holland, Andrea Holzschuh, Nieke TJ Knoben, Anikó Kovács-Hostyánszki, Yael Mandelik, Heleni Panou, Robert J Paxton, Theodora Petanidou, Miguel AA Pinheiro de Carvalho, Maj Rundlöf, Jean-Pierre Sarthou, Menelaos C Stavrinides, Maria Jose Suso, Hajnalka Szentgyörgyi, Bernard E Vaissière, Androulla Varnava, Montserrat Vilà, Romualdas Zemeckis, Jeroen Scheper
Mar 13, 2020
Agricultural intensification and associated loss of high-quality habitats are key drivers of insect pollinator declines. With the aim of decreasing the environmental impact of agriculture, the 2014 EU Common Agricultural Policy...
Natural history of Charcot-Marie-Tooth disease type 2A
Menelaos Pipis, Shawna ME Feely, James M Polke, Mariola Skorupinska, Laura Perez, Rosemary R Shy, Matilde Laura, Jasper M Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujovic, Thomas E Lloyd, Gyula Acsadi, Sabrina W Yum, Richard A Lewis, Richard S Finkel, David N Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horvath, Nicholas E Johnson, Stephan Züchner, Davide Pareyson, Steven S Scherer, Alexander M Rossor, Michael E Shy, Mary M Reilly, Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN)
Oct 15, 2020
Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in MFN2 (most commonly autosomal dominant) cause Charcot-Marie-Tooth...
Charcot-Marie-Tooth Examination Score v2.0 Charcot-Marie-Tooth disease type 2A genotype-phenotype correlations mitofusin-2 standardized response mean Adolescent Adult Age of Onset Charcot-Marie-Tooth disease Child Child Preschool Cohort Studies Disease Progression Female GTP Phosphohydrolases Genes Dominant Genes Recessive Genetic Association Studies Genetic Markers Humans Infant Longitudinal Studies Male Mitochondrial Proteins Neurologic Examination Orthotic Devices Prognosis Prospective Studies Wheelchairs Young Adult