Publications by authors named "Alasdair Wood"

The N-glycoprotein SCUBE family (Scube1, Scube2, and Scube3) plays diverse roles in vertebrate development and disease, yet many specific functions of the three family members remain unclear. These proteins exhibit broad tissue expression patterns, exist as soluble or membrane-tethered forms, and can form homo- or heteromeric complexes with each other, exerting both short- and long-range effects. Individual functional characterisation proves challenging because overlapping expression patterns and compensatory mechanisms likely obscure specific roles.

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Article Synopsis
  • Diagnostic genomic sequencing is becoming essential in nephrology, with efforts to enhance its national implementation to benefit patient outcomes.
  • A national study established 20 kidney genetics clinics across Australia from 2013 to 2022, offering genomic testing for patients with suspected monogenic kidney diseases and facilitating the collection of data on diagnostic experiences.
  • The initiative successfully integrated a multidisciplinary approach to kidney genetics, optimizing care for patients while adapting to ongoing technological advancements and preparing for broader healthcare funding for genomic testing.
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Article Synopsis
  • About 25% of patients with unexplained kidney failure have a genetic cause, specifically related to monogenic disorders.
  • A study explored the effectiveness of whole genome sequencing (WGS) combined with broad gene panel analysis in diagnosing these cases, finding it to be a viable method for identifying genetic mutations.
  • Among 100 participants aged ≤50 with stage 5 chronic kidney disease, a genetic diagnosis was reached in 25%, with a higher likelihood of positive results in those with a family history of chronic kidney disease.
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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) biosensors have captured more attention than the conventional methodologies for SARS-CoV-2 detection due to having cost-effective platforms and fast detection. However, these reported SARS-CoV-2 biosensors suffer from drawbacks including issues in detection sensitivity, degradation of biomaterials on the sensor's surface, and incapability to reuse the biosensors. To overcome these shortcomings, molecularly imprinted polymer nanoparticles (nanoMIPs) incorporated conductometric biosensor for highly accurate, rapid, and selective detection of two model SARS-CoV-2 proteins: (i) receptor binding domain (RBD) of the spike () glycoprotein and (ii) full length trimeric spike protein are introduced.

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The choices of participants in nephrology research genomics studies about receiving additional findings (AFs) are unclear as are participant factors that might influence those choices. : Participant choices and factors potentially impacting decisions about AFs were examined in an Australian study applying research genomic testing following uninformative diagnostic genetic testing for suspected monogenic kidney disease. : 93% of participants (195/210) chose to receive potential AFs.

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Unlabelled: Early identification of genetic kidney disease allows personalised management, clarification of risk for relatives, and guidance for family planning. Genetic disease is underdiagnosed, and recognition of genetic disease is particularly challenging in patients with kidney failure without distinguishing diagnostic features. To address this challenge, the primary aim of this study is to determine the proportion of genetic diagnoses amongst patients with kidney failure of unknown aetiology, using whole genome sequencing (WGS).

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The recently uncovered role of Fukutin-related protein (FKRP) in fibronectin glycosylation has challenged our understanding of the basis of disease pathogenesis in the muscular dystrophies. FKRP is a Golgi-resident glycosyltransferase implicated in a broad spectrum of muscular dystrophy (MD) pathologies that are not fully attributable to the well-described α-Dystroglycan hypoglycosylation. By revealing a new role for FKRP in the glycosylation of fibronectin, a modification critical for the development of the muscle basement membrane (MBM) and its associated muscle linkages, new possibilities for understanding clinical phenotype arise.

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Skeletal muscle regenerates through the activation of resident stem cells. Termed satellite cells, these normally quiescent cells are induced to proliferate by wound-derived signals. Identifying the source and nature of these cues has been hampered by an inability to visualize the complex cell interactions that occur within the wound.

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Background: Third-generation cephalosporins (3GC) remain the first-choice empiric antibiotic for severe infection in many sub-Saharan African hospitals. In Malawi, the limited availability of alternatives means that strategies to prevent the spread of 3GC resistance are imperative; however, suitable approaches to antimicrobial stewardship (AMS) in low-income settings are not well studied.

Methods: We introduced an AMS intervention to Queen Elizabeth Central Hospital in Blantyre.

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Deficiency of muscle basement membrane (MBM) component laminin-α2 leads to muscular dystrophy congenital type 1A (MDC1A), a currently untreatable myopathy. Laminin--α2 has two main binding partners within the MBM, dystroglycan and integrin. Integrins coordinate both cell adhesion and signalling; however, there is little mechanistic insight into integrin's function at the MBM.

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Muscle fiber detachment from myoseptal boundaries is a common finding in zebrafish models of muscular dystrophies. In some instances, there is a weakening of the interaction between muscle fiber and myosepta, which is yet to manifest as a fiber detachment phenotype. Therefore, to push the fiber detachment of muscle, mutant fish but not their wild-type siblings, beyond their binding threshold, a series of small electrical pulses can be applied to the larvae to create a maximal force contraction and ultimately fiber detachment.

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The Nuclear receptor subfamily 4 group A member 2 (Nr4a2) is crucial for the formation or maintenance of dopaminergic neurons in the central nervous system including the retina, where dopaminergic amacrine cells contribute to visual function. Little is known about which cells express Nr4a2 at which developmental stage. Furthermore, whether Nr4a2 functions in combination with other genes is poorly understood.

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The transition from fins to limbs was an important terrestrial adaptation, but how this crucial evolutionary shift arose developmentally is unknown. Current models focus on the distinct roles of the apical ectodermal ridge (AER) and the signaling molecules that it secretes during limb and fin outgrowth. In contrast to the limb AER, the AER of the fin rapidly transitions into the apical fold and in the process shuts off AER-derived signals that stimulate proliferation of the precursors of the appendicular skeleton.

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Background: Intramuscular diaphragmatic stimulation using an abdominal laparoscopic approach has been proposed as a safer alternative to traditional phrenic nerve stimulation. It has also been suggested that early implementation of diaphragmatic pacing may prevent diaphragm atrophy and lead to earlier ventilator independence. The aim of this study was therefore to systematically review the safety and effectiveness of intramuscular diaphragmatic stimulators in the treatment of patients with traumatic high cervical injuries resulting in long-term ventilator dependence, with particular emphasis on the affect of timing of insertion of such stimulators.

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Fukutin and fukutin-related protein (FKRP) are involved in the glycosylation of α-dystroglycan, a key receptor for basement membrane proteins. Aberrant α-dystroglycan glycosylation leads to a broad spectrum of disorders, ranging from limb girdle muscular dystrophy to Walker-Warburg syndrome. This is the first study investigating a role of fukutin and FKRP-mediated glycosylation in angiogenesis.

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In broiler breeder flocks in one broiler integration in Hungary, a new syndrome appeared in January 2005 with initially four successive post-peak flocks experiencing significant decreases in egg production. Clinically birds became depressed and there was a small increase in the mortality rate. Postmortem examinations revealed enlarged livers in up to 19% of birds dying, and enlarged spleens in some.

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