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The RUDY study platform – a novel approach to patient driven research in rare musculoskeletal diseases

Background Research into rare diseases is becoming more common, with recognition of the significant diagnostic and therapeutic care gaps. Registries are considered a key research methodology to address rare diseases. This report describes the structure of the Rare UK Diseases Study (RUDY) platform that aims to improve research processes and address many of the challenges of ...

Discharge Competence and Pattern Formation in Peatlands: A Meta-Ecosystem Model of the Everglades Ridge-Slough Landscape

Regular landscape patterning arises from spatially-dependent feedbacks, and can undergo catastrophic loss in response to changing landscape drivers. The central Everglades (Florida, USA) historically exhibited regular, linear, flow-parallel orientation of high-elevation sawgrass ridges and low-elevation sloughs that has degraded due to hydrologic modification. In this study, we use ...

Unveiling Interactions among Mitochondria, Caspase-Like Proteases, and the Actin Cytoskeleton during Plant Programmed Cell Death (PCD)

Aponogeton madagascariensis produces perforations over its leaf surface via programmed cell death (PCD). PCD begins between longitudinal and transverse veins at the center of spaces regarded as areoles, and continues outward, stopping several cells from these veins. The gradient of PCD that exists within a single areole of leaves in an early stage of development was used as a model ...

Ignition latitude and the shape of Type I X-ray bursts

The shape of the light curve during the rising phase of Type I X-ray bursts is determined by many factors including the ignition latitude, the accretion rate, and the rotation rate of the star. We develop a phenomenological model of the burst rise process and show that simple measures of the burst morphology can be robust diagnostics of ignition latitude and burning regime. We ...

The Role of Nuclear Receptor NHR-64 in Fat Storage Regulation in Caenorhabditis elegans

Nuclear hormone receptors (NHRs) play vital roles in the regulation of metabolism, reproduction, and development. We found that inactivation of a C. elegans HNF4 homologue nhr-64 by RNA interference (RNAi) suppresses low fat stores in stearoyl-CoA desaturase-deficient fat-6;fat-7 double mutants and sterol regulatory element binding protein (SREBP) sbp-1 mutants. Furthermore, ...

Spheramine for treatment of Parkinson’s disease

Spheramine (Bayer Schering Pharma AG, Berlin, Germany) is currently being tested as a new approach for the treatment of Parkinson’s disease (PD). It consists of an active component of cultured human retinal pigment epithelial (hRPE) cells, attached to an excipient part of crosslinked porcine gelatin microcarrriers. Spheramine is administered by stereotactic implantation into the ...

The Influence of Bacterial Diet on Fat Storage in C. elegans

Background The nematode Caenorhabditis elegans has emerged as an important model for studies of the regulation of fat storage. C. elegans feed on bacteria, and various strains of E. coli are commonly used in research settings. However, it is not known whether particular bacterial diets affect fat storage and metabolism. Methodology/Principal Findings Fat staining of fixed ...

The energy dependence of burst oscillations from the accreting millisecond pulsar XTE J1814−338

Anna L. Watts 1 Tod E. Strohmayer 0 0 Astrophysics Science Division, NASA Goddard Space Flight Centre , Greenbelt, MD 20771, USA 1 Max Planck Institut fur Astrophysik , Karl-Schwarzschild-Str.1

Detecting gravitational wave emission from the known accreting neutron stars

Detection of gravitational waves from accreting neutron stars (NSs) in our Galaxy, due to ellipticity or internal oscillation, would be a breakthrough in our understanding of compact objects and explain the absence of NSs rotating near the break-up limit. Direct detection, however, poses a formidable challenge. Using the current data available on the properties of the accreting NSs ...

ETS-4 Is a Transcriptional Regulator of Life Span in Caenorhabditis elegans

Aging is a complex phenotype responsive to a plethora of environmental inputs; yet only a limited number of transcriptional regulators are known to influence life span. How the downstream expression programs mediated by these factors (or others) are coordinated into common or distinct set of aging effectors is an addressable question in model organisms, such as C. elegans. Here, we ...

The spin evolution of nascent neutron stars

The loss of angular momentum owing to unstable r-modes in hot young neutron stars has been proposed as a mechanism for achieving the spin rates inferred for young pulsars. One factor that could have a significant effect on the action of the r-mode instability is fallback of supernova remnant material. The associated accretion torque could potentially counteract any ...

Genetic Regulation of Unsaturated Fatty Acid Composition in C. elegans

Delta-9 desaturases, also known as stearoyl-CoA desaturases, are lipogenic enzymes responsible for the generation of vital components of membranes and energy storage molecules. We have identified a novel nuclear hormone receptor, NHR-80, that regulates delta-9 desaturase gene expression in Caenorhabditis elegans. Here we describe fatty acid compositions, lifespans, and gene ...

Modelling the spin equilibrium of neutron stars in low-mass X-ray binaries without gravitational radiation

In this paper we discuss the spin equilibrium of accreting neutron stars in low-mass X-ray binaries (LMXBs). We demonstrate that, when combined with a naive spin-up torque, the observed data lead to inferred magnetic fields which are at variance with those of Galactic millisecond radio pulsars. This indicates the need for either additional spin-down torques (e.g. gravitational ...

The oscillation and stability of differentially rotating spherical shells: the initial-value problem

An understanding of the oscillations of differentially rotating systems is key to many areas of astrophysics. It is of particular relevance to the emission of gravitational waves from oscillating neutron stars, which are expected to possess significant differential rotation immediately after birth or binary merger. In a previous paper we analysed the normal modes of a simple system ...

The oscillation and stability of differentially rotating spherical shells: the normal-mode problem

An understanding of the dynamics of differentially rotating systems is key to many areas of astrophysics. We investigate the oscillations of a simple system exhibiting differential rotation, and discuss issues concerning the role of corotation points and the emergence of dynamical instabilities. This problem is of particular relevance to the emission of gravitational waves from ...

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

Lawrence I Golbe Margery H Mark John H Growdon G Frederick Wooten Ray L Watts Mark Guttman Brad A Racette Joel S Perlmutter Anwar Ahmed Holly A Shill Carlos Singer Stefano Goldwurm Gianni Pezzoli

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease

Yi-Ju Li 9 Sofia A. Oliveira 9 Puting Xu 9 Eden R. Martin 9 Judith E. Stenger 9 Clemens R. Scherzer 8 Michael A. Hauser 9 William K. Scott 9 Gary W. Small 7 Martha A. Nance 14 Ray L. Watts 13 Jean P