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Results: 137
A risk-informed decision support tool for the strategic asset management of railway track infrastructure
The provision of safe, efficient, reliable and affordable railway transport requires the railway track infrastructure to be maintained to an appropriate condition. Given the constrained budgets under which the...
The combination of cardiorespiratory fitness and muscle strength, and mortality risk.
Youngwon Kim, Tom White, Katrien Wijndaele, Kate Westgate, Stephen J Sharp, Jørn W Helge, Nick J Wareham, Soren Brage
May 03, 2018
Little is known about the combined associations of cardiorespiratory fitness (CRF) and hand grip strength (GS) with mortality in general adult populations. The purpose of this study was to compare the relative risk of mortality...
Insight into partial agonism by observing multiple equilibria for ligand-bound and Gs-mimetic nanobody-bound β1-adrenergic receptor.
Andras S Solt, Mark J Bostock, Binesh Shrestha, Prashant Kumar, Tony Warne, Christopher G Tate, Daniel Nietlispach
Jun 08, 2018
A complex conformational energy landscape determines G-protein-coupled receptor (GPCR) signalling via intracellular binding partners (IBPs), e.g., Gs and β-arrestin. Using 13C methyl methionine NMR for the β1-adrenergic...
Gitelman syndrome: consensus and guidance from a Kidney Disease
Anne Blanchard, Detlef Bockenhauer, Davide Bolignano, Lorenzo A Calò, Etienne Cosyns, Olivier Devuyst, David H Ellison, Fiona E Karet Frankl, Nine VAM Knoers, Martin Konrad, Shih-Hua Lin, Rosa Vargas-Poussou
Feb 12, 2019
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the...
SLC12A3 hypokalemic metabolic alkalosis hypomagnesemia salt-losing tubulopathy thiazide-sensitive sodium-chloride cotransporter Angiotensin Receptor Antagonists Angiotensin-Converting Enzyme Inhibitors Anti-Inflammatory Agents Non-Steroidal Bartter Syndrome Calcium Chloride Channels Chondrocalcinosis Consensus Development Conferences as Topic Diagnosis Differential Dietary Supplements Genetic Testing Gitelman syndrome Humans Hypokalemia Magnesium Mutation Phenotype Potassium Practice Guidelines as Topic Quality of life Rare Diseases Sodium Chloride Dietary Solute Carrier Family 12 Member 3 Ultrasonography
Independent and joint associations of grip strength and adiposity with all-cause and cardiovascular disease mortality in 403,199 adults
Youngwon Kim, Katrien Wijndaele, Duck-Chul Lee, Stephen J Sharp, Nick Wareham, Soren Brage
Jul 28, 2017
Background: Higher grip strength (GS) is associated with lower mortality risk. However, whether this association is independent of adiposity is uncertain.Objective: The purpose of this study was to examine the associations...
Making urinary extracellular vesicles a clinically tractable source of biomarkers for inherited tubulopathies using a small volume precipitation method
Biomarkers of inherited tubulopathies would be useful for clarifying diagnoses in patients where genetic screening is not readily available or where disease-attributable mutations are not found. Urinary extracellular vesicles...
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Gross, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
Mar 05, 2022
BACKGROUND: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal...
Griscelli Syndrome Type 2 Sine Albinism
Yuta Ohishi, Sandra Ammann, Vahid Ziaee, Katharina Strege, Miriam Groß, Carla Vazquez Amos, Mohammad Shahrooei, Parisa Ashournia, Anahita Razaghian, Gillian M Griffiths, Stephan Ehl, Mitsunori Fukuda, Nima Parvaneh
Jan 18, 2021
Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by RAB27A mutations that encode RAB27A, a member of the Rab...
Leukocytes Mononuclear Cell Line COS Cells Animals Humans Albinism Piebaldism rab GTP-Binding Proteins Adaptor Proteins Signal Transducing Membrane Proteins Binding Sites Mutation Missense Adolescent Child Child Preschool Infant Infant Newborn Female Male Lymphohistiocytosis Hemophagocytic rab27 GTP-Binding Proteins Primary Immunodeficiency Diseases Chlorocebus aethiops
Modelling water use efficiency in a dynamic environment
S Vialet-Chabrand, JSA Matthews, O Brendel, MR Blatt, Y Wang, A Hills, H Griffiths, S Rogers, T Lawson
May 14, 2018
Intrinsic water use efficiency (Wi), the ratio of net CO2 assimilation (A) over stomatal conductance to water vapour (gs), is a complex trait used to assess plant performance. Improving Wi could lead in theory to higher...
Incidence of surrogacy in the USA and Israel and implications on women's health
PURPOSE: Gestational surrogacy (GS) has been researched in multiple qualitative studies. In contrast, quantitative aspects of the practice are conspicuously understudied. The present article assesses and compares the incidence...
Effector gene birth in plant parasitic nematodes
Catherine J Lilley, Abbas Maqbool, Duqing Wu, Hazijah B Yusup, Laura M Jones, Paul RJ Birch, Mark J Banfield, Peter E Urwin, Sebastian Eves-van den Akker
Oct 10, 2018
Plant pathogens and parasites are a major threat to global food security. Plant parasitism has arisen four times independently within the phylum Nematoda, resulting in at least one parasite of every major food crop in the world....
Using Probabilistic Fault Tree Analysis and Monte Carlo Simulation to Examine the Likelihood of Risks Associated with Ballasted Railway Drainage Failure
Inadequate track drainage can lead to a variety of issues, including flooding, accelerated track degradation, and progressive or sudden failure of railway track, slope, or embankment. These can result in unplanned track...
Kristianto Usman, Michael Peter Nicholas Burrow, Gurmel Singh Ghataora, Manu Sasidharan
Apr 30, 2021
Griscelli Syndrome Type 2 Sine Albinism
Yuta Ohishi, Sandra Ammann, Vahid Ziaee, Katharina Strege, Miriam Groß, Carla Vazquez Amos, Mohammad Shahrooei, Parisa Ashournia, Anahita Razaghian, Gillian M. Griffiths, Stephan Ehl, Mitsunori Fukuda, Nima Parvaneh
Dec 24, 2020
Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by RAB27A mutations that encode RAB27A, a member of the Rab...
Session report
GS Phani Madabhushi
Apr 02, 2015
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9
Amand F. Schmidt, Michael V. Holmes, David Preiss, Daniel I. Swerdlow, Spiros Denaxas, Ghazaleh Fatemifar, Rupert Faraway, Chris Finan, Dennis Valentine, Zammy Fairhurst-Hunter, Fernando Pires Hartwig, Bernardo Lessa Horta, Elina Hypponen, Christine Power, Max Moldovan, Erik van Iperen, Kees Hovingh, Ilja Demuth, Kristina Norman, Elisabeth Steinhagen-Thiessen, Juri Demuth, Lars Bertram, Christina M. Lill, Stefan Coassin, Johann Willeit, Stefan Kiechl, Karin Willeit, Dan Mason, John Wright, Richard Morris, Goya Wanamethee, Peter Whincup, Yoav Ben-Shlomo, Stela McLachlan, Jackie F. Price, Mika Kivimaki, Catherine Welch, Adelaida Sanchez-Galvez, Pedro Marques-Vidal, Andrew Nicolaides, Andrie G. Panayiotou, N. Charlotte Onland-Moret, Yvonne T. van der Schouw, Giuseppe Matullo, Giovanni Fiorito, Simonetta Guarrera, Carlotta Sacerdote, Nicholas J. Wareham, Claudia Langenberg, Robert A. Scott, Jian’an Luan, Martin Bobak, Sofia Malyutina, Andrzej Pająk, Ruzena Kubinova, Abdonas Tamosiunas, Hynek Pikhart, Niels Grarup, Oluf Pedersen, Torben Hansen, Allan Linneberg, Tine Jess, Jackie Cooper, Steve E. Humphries, Murray Brilliant, Terrie Kitchner, Hakon Hakonarson, David S. Carrell, Catherine A. McCarty, Kirchner H. Lester, Eric B. Larson, David R. Crosslin, Mariza de Andrade, Dan M. Roden, Joshua C. Denny, Cara Carty, Stephen Hancock, John Attia, Elizabeth Holliday, Rodney Scott, Peter Schofield, Martin O’Donnell, Salim Yusuf, Michael Chong, Guillaume Pare, Pim van der Harst, M. Abdullah Said, Ruben N. Eppinga, Niek Verweij, Harold Snieder, Tim Christen, D. O. Mook-Kanamori, Stefan Gustafsson, Lars Lind, Erik Ingelsson, Raha Pazoki, Oscar Franco, Albert Hofman, Andre Uitterlinden, Abbas Dehghan, Alexander Teumer, Sebastian Baumeister, Marcus Dörr, Markus M. Lerch, Uwe Völker, Henry Völzke, Joey Ward, Jill P. Pell, Tom Meade, Ingrid E. Christophersen, Anke H. Maitland-van der Zee, Ekaterina V. Baranova, Robin Young, Ian Ford, Archie Campbell, Sandosh Padmanabhan, Michiel L. Bots, Diederick E. Grobbee, Philippe Froguel, Dorothée Thuillier, Ronan Roussel, Amélie Bonnefond, Bertrand Cariou, Melissa Smart, Yanchun Bao, Meena Kumari, Anubha Mahajan, Jemma C. Hopewell, Sudha Seshadri, Caroline Dale, Rui Providencia E. Costa, Paul M. Ridker, Daniel I. Chasman, Alex P. Reiner, Marylyn D. Ritchie, Leslie A. Lange, Alex J. Cornish, Sara E. Dobbins, Kari Hemminki, Ben Kinnersley, Marc Sanson, Karim Labreche, Matthias Simon, Melissa Bondy, Philip Law, Helen Speedy, James Allan, Ni Li, Molly Went, Niels Weinhold, Gareth Morgan, Pieter Sonneveld, Björn Nilsson, Hartmut Goldschmidt, Amit Sud, Andreas Engert, Markus Hansson, Harry Hemingway, Folkert W. Asselbergs, Riyaz S. Patel, Brendan J. Keating, Naveed Sattar, Richard Houlston, Juan P. Casas, Aroon D. Hingorani
Oct 28, 2020
Abstract: Background: We characterised the phenotypic consequence of genetic variation at the PCSK9 locus and compared findings with recent trials of pharmacological inhibitors of PCSK9. Methods: Published and individual...
Optimized pharmacological control over the AAV-Gene-Switch vector for regulable gene therapy.
Shi Cheng, Marcel M van Gaalen, Mathias Bähr, Enrique Garea-Rodriguez, Sebastian Kügler
Oct 26, 2021
Gene therapy in its current design is an irreversible process. It cannot be stopped in case of unwanted side effects, nor can expression levels of therapeutics be adjusted to individual patient's needs. Thus, the Gene-Switch...
Milky Way's Eccentric Constituents with Gaia, APOGEE, and GALAH
Abstract
We report the results of an unsupervised decomposition of the local stellar halo in the chemodynamical space spanned by the abundance measurements from APOGEE DR17 and...
Time of day is associated with paradoxical reductions in global signal fluctuation and functional connectivity.
The brain exhibits substantial diurnal variation in physiology and function, but neuroscience studies rarely report or consider the effects of time of day. Here, we examined variation in resting-state functional MRI (fMRI) in...
Long-range dispersal, stochasticity and the broken accelerating wave of advance.
Rare long distance dispersal events are thought to have a disproportionate impact on the spread of invasive species. Modelling using integrodifference equations suggests that, when long distance contacts are represented by a...
Nonequivalence of updating rules in evolutionary games under high mutation rates.
Moran processes are often used to model selection in evolutionary simulations. The updating rule in Moran processes is a birth-death process, i. e., selection according to fitness of an individual to give birth, followed by the...
Ligand recognition and G-protein coupling selectivity of cholecystokinin A receptor.
Qiufeng Liu, Dehua Yang, Youwen Zhuang, Tristan I Croll, Xiaoqing Cai, Antao Dai, Xinheng He, Jia Duan, Wanchao Yin, Chenyu Ye, Fulai Zhou, Beili Wu, Qiang Zhao, H Eric Xu, Ming-Wei Wang, Yi Jiang
Nov 22, 2021
Cholecystokinin A receptor (CCKAR) belongs to family A G-protein-coupled receptors and regulates nutrient homeostasis upon stimulation by cholecystokinin (CCK). It is an attractive drug target for gastrointestinal and metabolic...
Processes Underlying Glycemic Deterioration in Type 2 Diabetes
OBJECTIVE: We investigated the processes underlying glycemic deterioration in type 2 diabetes (T2D). RESEARCH DESIGN AND METHODS: A total of 732 recently diagnosed patients with T2D from the Innovative Medicines Initiative...
/dk/atira/pure/subjectarea/asjc/2700/2724 name=Internal Medicine /dk/atira/pure/subjectarea/asjc/2700/2712 name=Endocrinology, Diabetes and Metabolism /dk/atira/pure/subjectarea/asjc/2900/2902 name=Advanced and Specialised Nursing /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy Establishes NECAP1 as a Novel Candidate Gene for Retinal Degeneration.
Rebekkah J Hitti, James AC Oliver, Ellen C Schofield, Anina Bauer, Maria Kaukonen, Oliver P Forman, Tosso Leeb, Hannes Lohi, Louise M Burmeister, David Sargan, Cathryn S Mellersh
Aug 21, 2019
Canine progressive retinal atrophies (PRA) are genetically heterogeneous diseases characterized by retinal degeneration and subsequent blindness. PRAs are untreatable and affect multiple dog breeds, significantly impacting...
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