Publications by authors named "O'Neill R"

The marsupial moles are arguably Australia's most enigmatic marsupials. Almost indistinguishable from placental (eutherian) moles, they provide a striking example of convergent evolution. Exploring the genome of the southern marsupial mole, we provide insights into its unusual biology.

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Background: Patients with clear cell renal cell carcinoma (ccRCC) metastases face poor prognoses, even with adjuvant therapies. Tumor-infiltrating T-cells and macrophages are critical in targeting tumor cells within the renal microenvironment. Beyond VHL mutations, loss-of-function mutations in SWI/SNF complex genes, including PBRM1, BAP1, ARID1A, SETD2, SMARCA4 (BRG1), and SMARCA2 (BRM), have been implicated in ccRCC progression.

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Background: Several organizations including the Environmental Protection Agency, World Health Organization and American Academy of Pediatrics recommend that hospital sound levels not exceed 45 decibels. Yet, several studies across multiple age groups have observed higher than recommended levels in the intensive care setting. Elevated sound levels in hospitals have been associated with disturbances in sleep, patient discomfort, delayed recovery, and delirium.

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  • - Mucosa-associated lymphoid tissue (MALT) lymphoma is a rare B-cell lymphoma that can affect various organs, and patients with Sjögren's syndrome (SjS) have significantly higher risks of developing it.
  • - A case study is presented of primary thymic MALT lymphoma found incidentally during routine chest imaging, alongside cystic lung disease, primarily observed in women with SjS.
  • - Imaging techniques revealed a large mass in the mediastinum and numerous pulmonary cysts; the diagnosis was confirmed via biopsy, and treatment improved lung function, emphasizing the link between SjS and MALT lymphoma's lung manifestations.
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  • Centromeres rely on the histone variant CENP-A and the role of surrounding DNA repeats is not fully understood, while retroelements are abundant in centromeres and may help with transcription and CENP-A integration.* -
  • This study focuses on the retroelement Jockey-3 in Drosophila melanogaster, showing it is a significant part of the centromeric transcriptome and that its RNA localizes to centromeres during cell division.* -
  • The research suggests that Jockey-3 inserts itself at centromeres to aid its own replication, while also supporting transcription in these areas, which could provide insights into similar mechanisms in other species.*
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Background: The number of women entering pregnancy with overweight or obesity is increasing. This can increase the risk for excessive gestational weight gain (GWG) which is associated with health complications for mother and baby. There are limited evidence-based interventions within antenatal care settings to encourage healthy eating and physical activity behaviours and support women with managing GWG.

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Background: Vaccination against 5 prominent meningococcal serogroups (A/B/C/W/Y) is necessary for broad disease protection. We report immunopersistence through 4 years after a 2-dose (6-month interval) pentavalent MenABCWY primary vaccine series and safety and immunogenicity of a booster administered 4 years after primary vaccination.

Methods: This randomized, active-controlled, observer-blinded study was conducted in the United States and Europe.

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Objective: Cutaneous head and neck surgery can safely and effectively be performed using local anesthetic (LA). However, optimizing pain management during LA administration is paramount for patient comfort and procedural efficacy. The primary objective of this study was to investigate the comparative effectiveness of EMLA cream and ethyl chloride (EC) spray in mitigating pain associated with LA administration in cutaneous head and neck surgery.

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  • The MAPK genes are important for gonadal differentiation in eutherian mammals, and this study investigates their role in marsupials, specifically the tammar wallaby.
  • The researchers used a MAPK inhibitor, SB202190, to study its effects on gonads and found it reduced levels of key genes SOX9 and AMH in XY gonads.
  • The study concludes that the MAPK pathway is involved in testis differentiation in marsupials, similar to its role in eutherian mammals.
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Acute liver failure secondary to metastatic melanoma is exceedingly rare with the literature limited to case reports. The disease itself presents with vague symptoms making diagnosis difficult without a high clinical suspicion. Further to this, the prognosis of acute liver failure secondary to metastatic melanoma is dismal.

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T cell receptor (TCR) sensitivity to peptide-major histocompatibility complex (MHC) dictates T cell fate. Canonical models of TCR sensitivity cannot be fully explained by transcriptional regulation. In this work, we identify a posttranscriptional regulatory mechanism of TCR sensitivity that guides alternative splicing of TCR signaling transcripts through an evolutionarily ultraconserved poison exon (PE) in the RNA-binding protein (RBP) TRA2β in mouse and human.

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Great apes have maintained a stable karyotype with few large-scale rearrangements; in contrast, gibbons have undergone a high rate of chromosomal rearrangements coincident with rapid centromere turnover. Here we characterize assembled centromeres in the Eastern hoolock gibbon, (HLE), finding a diverse group of transposable elements (TEs) that differ from the canonical alpha satellites found across centromeres of other apes. We find that HLE centromeres contain a CpG methylation centromere dip region, providing evidence this epigenetic feature is conserved in the absence of satellite arrays; nevertheless, we report a variety of atypical centromeric features, including protein-coding genes and mismatched replication timing.

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Edaravone is one of two main drugs for treating motor neurone disease (MND). This review proposes a specific quality target product profile (QTPP) for edaravone following an appraisal of the issues accounting for the poor clinical uptake of the approved IV and oral liquid edaravone formulations. This is followed by a review of the alternative oral formulations of edaravone described in the published patent and journal literature against the QTPP.

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  • X chromosome inactivation (XCI) is an epigenetic phenomenon where one X chromosome in females is silenced, differing between eutherian (random silencing) and marsupial mammals (always paternal silencing).
  • In eutherians, the inactive X shows high DNA methylation at key sites, while marsupials have lower methylation levels on the paternal X.
  • The study focused on the tammar wallaby's X chromosome during sperm development, finding that the paternal X has a DNA methylation profile similar to the inactive X in female tissues, suggesting it may serve as an imprint for paternal XCI in marsupials.
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  • The study presents detailed genomes of six ape species, achieving high accuracy and complete sequencing of all their chromosomes.
  • It addresses complex genomic regions, leading to enhanced understanding of evolutionary relationships among these species.
  • The findings will serve as a crucial resource for future research on human evolution and our closest ape relatives.
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Telomere-to-telomere (T2T) assemblies reveal new insights into the structure and function of the previously 'invisible' parts of the genome and allow comparative analyses of complete genomes across entire clades. We present here an open collaborative effort, termed the 'Ruminant T2T Consortium' (RT2T), that aims to generate complete diploid assemblies for numerous species of the Artiodactyla suborder Ruminantia to examine chromosomal evolution in the context of natural selection and domestication of species used as livestock.

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  • Apes have two sex chromosomes: the essential Y chromosome for male reproduction and the X chromosome necessary for both reproduction and cognition, with differences in mating patterns affecting their function.
  • Studying these chromosomes is challenging due to their repetitive structures, but researchers created gapless assemblies for five great apes and one lesser ape to explore their evolutionary complexities.
  • The Y chromosomes are highly variable and undergo significant changes compared to the more stable X chromosomes, and this research can provide insights into human evolution and aid in the conservation of endangered ape species.
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  • - The eastern quoll, an endangered marsupial from Australia, has lost its mainland populations and now only exists on two islands, leading to efforts for captive breeding and re-establishment on the mainland.
  • - Researchers created a high-quality reference genome for the eastern quoll, aiding in genetic management and providing insight into its demographic history, which shows signs of long-term decline starting in the late Pleistocene.
  • - The study also discovered a genetic deletion at the ASIP locus that may explain the color differences in fur between the eastern quoll and the closely related Tasmanian devil.
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  • Scorpions are an ancient group of arachnids, over 400 million years old, and one of the first land-dwelling animals, but research on their evolution is limited due to the lack of genomic data.
  • This study used advanced sequencing techniques to create the first detailed chromosome-level genome assembly for the desert hairy scorpion, Hadrurus arizonensis, yielding a genome size of 2.23 Gb and reorganizing the data into nine chromosomes.
  • The assembly identified a high number of protein-coding genes and complete arthropod orthologs, making it a valuable resource for understanding scorpion evolution, arachnid relationships, and for future genomic studies.
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The migratory behavior of Atlantic salmon (Salmo salar) post-smolts in coastal waters is poorly understood. In this collaborative study, 1914 smolts, from 25 rivers, in four countries were tagged with acoustic transmitters during a single seasonal migration. In total, 1105 post-smolts entered the marine study areas and 438 (39.

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