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Results: 224
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak
Jul 28, 2021
Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the...
ATP6V1A Golgi Apparatus autosomal recessive cutis laxa hypotonia progeroid features V-ATPase Adolescent Alleles Case-Control Studies cutis laxa FIBROBLASTS Golgi Apparatus Humans Infant Infant Newborn Intellectual Disability Male Mutation Missense Pedigree Phenotype Vacuolar Proton-Translocating ATPases
Co-Production of Assessment Rubrics in an Online Education Context
Marking rubrics is hailed as a transparent and effective way of supporting student success; enhancing their ability to understand and use their learning environment to achieve their goals. Rubrics also enable staff to mark...
classroom management Education Learning Assessment and Measurement Social Sciences and Humanities Library and Information Science
Published by: IGI Global Scientific Publishing
Risk of cardiovascular disease for women with polycystic ovary syndrome
Polycystic Ovary Syndrome (PCOS) is an endocrinological condition affecting up to 18% of reproductive-age women1. Diagnosis requires two or more of the following: (1) menstrual irregularity, (2) hyperandrogenism (excess male...
Personalised adherence support for maintenance treatment of inflammatory bowel disease:
Sarah Chapman, Alice Sibeli, Anja St Clair-Jones, Angel Chater, Alistair Forbes, Rob Horne
May 07, 2020
Background and Aims Interventions to improve adherence to medication may be more effective if tailored to the individual, addressing adherence-related beliefs about treatment and overcoming practical barriers to daily use. We...
Reactivity of Amorphous Carbon Surfaces
Systematic atomistic studies of surface reactivity for amorphous materials have not been possible in the past because of the complexity of these materials and the lack of the computer power necessary to draw representative...
Automated optimisation of solubility and conformational stability of antibodies and proteins
Angelo Rosace, Anja Bennett, Marc Oeller, Mie M Mortensen, Laila Sakhnini, Nikolai Lorenzen, Christian Poulsen, Pietro Sormanni
Apr 07, 2023
Volcanic effects on climate
Lauren Marshall, Elena Maters, Anja Schmidt, Claudia Timmreck, Alan Robock, Matthew Toohey
May 09, 2022
Volcanic eruptions have long been studied for their wide range of climatic effects. Although global-scale climatic impacts following the formation of stratospheric sulfate aerosol are well understood, many aspects of the...
Father-child attachment in adoptive gay father families.
Anja L McConnachie, Nadia Ayed, Vasanti Jadva, Michael Lamb, Fiona Tasker, Susan Golombok
Apr 03, 2019
The attachment security of children in 30 gay father families, 29 lesbian mother families and 38 heterosexual parent families was investigated using the Friends and Family Interview (FFI) at the second phase of a longitudinal...
Personalised adherence support for maintenance treatment of inflammatory bowel disease:
Sarah Chapman, Alice Sibeli, Anja St Clair-Jones, Angel Chater, Alistair Forbes, Rob Horne
May 07, 2020
Background and Aims Interventions to improve adherence to medication may be more effective if tailored to the individual, addressing adherence-related beliefs about treatment and overcoming practical barriers to daily use. We...
Adoptive Gay Father Families
Anja L McConnachie, Nadia Ayed, Sarah Foley, Michael E Lamb, Vasanti Jadva, Fiona Tasker, Susan Golombok
Jul 21, 2020
Findings are presented from the second phase of a UK longitudinal study of 33 gay father, 35 lesbian mother, and 43 heterosexual parent families when their adopted children reached early adolescence. Participants predominantly...
Plasmodium falciparum variant erythrocyte surface antigens
Elise Schieck, E Jane Poole, Anja Rippert, Judy Peshu, Philip Sasi, Steffen Borrmann, Peter Bull
Feb 07, 2018
Erythrocytes Humans Plasmodium falciparum Malaria Falciparum Antigens Protozoan Antigens surface Fluorescent Antibody Technique Pilot Projects antigenic variation Child Preschool Infant Female Male
Published by: Malaria journal
Metabolic adaptations during extreme anoxia in the turtle heart and their implications for ischemia-reperfusion injury.
Amanda Bundgaard, Andrew M James, Anja V Gruszczyk, Jack Martin, Michael P Murphy, Angela Fago
May 01, 2019
ATP depletion and succinate accumulation during ischemia lead to oxidative damage to mammalian organs upon reperfusion. In contrast, freshwater turtles survive weeks of anoxia at low temperatures without suffering from oxidative...
Global climate disruption and regional climate shelters after the Toba supereruption.
Benjamin A Black, Jean-François Lamarque, Daniel R Marsh, Anja Schmidt, Charles G Bardeen
Jul 14, 2021
The Toba eruption ∼74,000 y ago was the largest volcanic eruption since the start of the Pleistocene and represents an important test case for understanding the effects of large explosive eruptions on climate and ecosystems....
Practical implementation of the partial ordering continual reassessment method in a Phase I combination-schedule dose-finding trial.
Pavel Mozgunov, Thomas Jaki, Ioannis Gounaris, Thomas Goddemeier, Anja Victor, Marianna Grinberg
Nov 26, 2022
Genetic architecture of repeated phenotypic divergence in Littorina saxatilis ecotype evolution.
Chromosomal inversions have been shown to play a major role in a local adaptation by suppressing recombination between alternative arrangements and maintaining beneficial allele combinations. However, so far, their importance...
Climate change modulates the stratospheric volcanic sulfate aerosol lifecycle and radiative forcing from tropical eruptions.
Thomas J Aubry, John Staunton-Sykes, Lauren R Marshall, Jim Haywood, Nathan Luke Abraham, Anja Schmidt
Sep 13, 2021
Explosive volcanic eruptions affect climate, but how climate change affects the stratospheric volcanic sulfate aerosol lifecycle and radiative forcing remains unexplored. We combine an eruptive column model with an...
Published by: Nature Communications
Greater accordance with the Dietary Approaches to Stop Hypertension dietary pattern is associated with lower diet-related greenhouse gas production but higher dietary costs in the United Kingdom.
Pablo Monsivais, Peter Scarborough, Tina Lloyd, Anja Mizdrak, Robert Luben, Angela A Mulligan, Nicholas J Wareham, James Woodcock
May 29, 2015
climate diet quality food prices Prevention Public Health Adult Aged agriculture Carbon Dioxide Carbon Footprint Conservation of Natural Resources Cross-Sectional Studies Diet Female Greenhouse Effect Health Behavior Humans Hypertension Male methane Middle Aged Nitrous Oxide Prospective Studies Socioeconomic Factors United Kingdom
The influence of time on the sensitivity of SARS-CoV-2 serological testing.
Arturo Torres Ortiz, Fernanda Fenn Torrente, Adam Twigg, James Hatcher, Anja Saso, Tanya Lam, Marina Johnson, Helen Wagstaffe, Rishi Dhillon, Anabelle Lea Mai, David Goldblatt, Rachel Still, Matthew Buckland, Kimberly Gilmour, Louis Grandjean
Jul 23, 2022
Sensitive serological testing is essential to estimate the proportion of the population exposed or infected with SARS-CoV-2, to guide booster vaccination and to select patients for treatment with anti-SARS-CoV-2 antibodies. The...
Mitochondrial mechanisms and therapeutics in ischaemia reperfusion injury.
Acute kidney injury (AKI) remains a major problem in critically unwell children and young adults. Ischaemia reperfusion (IR) injury is a major contributor to the development of AKI in a significant proportion of these cases and...
DJ-1
Federica De Lazzari, Hiran A Prag, Anja V Gruszczyk, Alexander J Whitworth, Marco Bisaglia
Apr 16, 2021
DJ-1 is a multifaceted protein with pleiotropic functions that has been implicated in multiple diseases, ranging from neurodegeneration to cancer and ischemia-reperfusion injury. Ischemia is a complex pathological state arising...
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