908 results on '"Gleeson, J."'
Search Results
2. The interplay between spatial and heliconical orientational order in twist-bend nematic materials
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Saha, R, Feng, C, Welch, C, Mehl, GH, Feng, J, Zhu, C, Gleeson, J, Sprunt, S, and Jákli, A
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Macromolecular and Materials Chemistry ,Chemical Sciences ,Physical Sciences ,Chemical Physics - Abstract
The helical pitch formed by organic molecules, such as the α-helix of proteins, usually requires hydrogen bonding between chiral units and long-range positional order. It was recently found that certain liquid crystal oligomers can have a twist-bend nematic (NTB) phase with nanoscale heliconical structure without hydrogen bonding, molecular chirality or positional order. To understand the nature of this unique structure, here we present hard and resonant tender X-ray scattering studies of two novel sulfur containing dimer materials. We simultaneously measure the temperature dependences of the helical pitch and the correlation length of both the helical and positional order. In addition to an unexpected strong variation of the pitch with the length of the spacer connecting the monomer units, we find that at the transition to the NTB phase the positional correlation length drops. The helical structure was found not only in the NTB phase but observed even in the upper range of a smectic phase that forms just below the NTB state. The coexistence of smectic layering and the heliconical order indicates a layered (SmATB) phase wherein the rigid units of the dimers are tilted with respect to the smectic layer normal in order to accommodate the bent conformation of the dimers and the tilt direction rotates along the heliconical axis.
- Published
- 2021
3. Sparse power-law network model for reliable statistical predictions based on sampled data
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Kartun-Giles, A. P., Krioukov, D., Gleeson, J. P., Moreno, Y., and Bianconi, G.
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Physics - Physics and Society ,Condensed Matter - Disordered Systems and Neural Networks ,Condensed Matter - Statistical Mechanics - Abstract
A projective network model is a model that enables predictions to be made based on a subsample of the network data, with the predictions remaining unchanged if a larger sample is taken into consideration. An exchangeable model is a model that does not depend on the order in which nodes are sampled. Despite a large variety of non-equilibrium (growing) and equilibrium (static) sparse complex network models that are widely used in network science, how to reconcile sparseness (constant average degree) with the desired statistical properties of projectivity and exchangeability is currently an outstanding scientific problem. Here we propose a network process with hidden variables which is projective and can generate sparse power-law networks. Despite the model not being exchangeable, it can be closely related to exchangeable uncorrelated networks as indicated by its information theory characterization and its network entropy. The use of the proposed network process as a null model is here tested on real data, indicating that the model offers a promising avenue for statistical network modelling., Comment: (26 pages 2 figures)
- Published
- 2018
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4. Management of newly diagnosed glioblastoma multiforme: current state of the art and emerging therapeutic approaches
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McMahon, D. J., Gleeson, J. P., O’Reilly, S., and Bambury, R. M.
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- 2022
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5. The effect of the alliance on social recovery outcomes and usage in a moderated online social therapy for first‐episode psychosis
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Stiles, B. J., primary, Halverson, T. F., additional, Stone, A., additional, Still, C., additional, Gleeson, J. F., additional, Alvarez‐Jimenez, M., additional, Perkins, D. O., additional, and Penn, D. L., additional
- Published
- 2024
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6. Light scattering study of the 'pseudo-layer' compression elastic constant in a twist-bend nematic liquid crystal
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Parsouzi, Z., Pardaev, Shokir A., Welch, C., Ahmed, Z., Mehl, G. H., Baldwin, A. R., Gleeson, J. T., Lavrentovich, O. D., Allender, D. W., Selinger, J. V., Jakli, A., and Sprunt, S.
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Condensed Matter - Soft Condensed Matter ,Condensed Matter - Materials Science ,Physics - Optics - Abstract
The nematic twist-bend (TB) phase, exhibited by certain achiral thermotropic liquid crystalline (LC) dimers, features a nanometer-scale, heliconical rotation of the average molecular long axis (director) with equally probable left- and right-handed domains. On meso to macroscopic scales, the TB phase may be considered as a stack of equivalent slabs or "pseudo-layers", each one helical pitch in thickness. The long wavelength fluctuation modes should then be analogous to those of a smectic-A phase, and in particular the hydrodynamic mode combining "layer" compression and bending ought to be characterized by an effective layer compression elastic constant $B_{eff}$ and average director splay constant $K_1^{eff}$. The magnitude of $K_1^{eff}$ is expected to be similar to the splay constant of an ordinary nematic LC, but due to the absence of a true mass density wave, $B_{eff}$ could differ substantially from the typical value of $\sim 10^6$ Pa in a conventional smectic-A. Here we report the results of a dynamic light scattering study, which confirms the "pseudo-layer" structure of the TB phase with $B_{eff}$ in the range $\sim 10^3-10^4$ Pa. We show additionally that the temperature dependence of $B_{eff}$ at the TB to nematic transition is accurately described by a coarse-grained free energy density, which is based on a Landau-deGennes expansion in terms of a heli-polar order parameter that characterizes the TB state and is linearly coupled to bend distortion of the director., Comment: 9 pages, 7 figures
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- 2016
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7. Second harmonic light scattering induced by defects in the twist-bend nematic phase of liquid crystal dimers
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Pardaev, Shokir A., Shamid, S. M., Tamba, M. G., Welch, C., Mehl, G. H., Gleeson, J. T., Allender, D. W., Selinger, J. V., Ellman, B., Jakli, A., and Sprunt, S.
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Condensed Matter - Soft Condensed Matter - Abstract
The nematic twist-bend ($\mathrm{N_{TB}}$) phase, exhibited by certain thermotropic liquid crystalline (LC) dimers, represents a new orientationally ordered mesophase -- the first distinct nematic variant discovered in many years. The $\mathrm{N_{TB}}$ phase is distinguished by a heliconical winding of the average molecular long axis (director) with a remarkably short (nanoscale) pitch and, in systems of achiral dimers, with an equal probability to form right- and left-handed domains. The $\mathrm{N_{TB}}$ structure thus provides another fascinating example of spontaneous chiral symmetry breaking in nature. The order parameter driving the formation of the heliconical state has been theoretically conjectured to be a polarization field, deriving from the bent conformation of the dimers, that rotates helically with the same nanoscale pitch as the director field. It therefore presents a significant challenge for experimental detection. Here we report a second harmonic light scattering (SHLS) study on two achiral, $\mathrm{N_{TB}}$-forming LCs, which is sensitive to the polarization field due to micron-scale distortion of the helical structure associated with naturally-occurring textural defects. These defects are parabolic focal conics of smectic-like "pseudo-layers", defined by planes of equivalent phase in a coarse-grained description of the $\mathrm{N_{TB}}$ state. Our SHLS data are explained by a coarse-grained free energy density that combines a Landau-deGennes expansion of the polarization field, the elastic energy of a nematic, and a linear coupling between the two.
- Published
- 2016
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8. Anomalous increase in nematic-isotropic transition temperature in dimer molecules induced by magnetic field
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Salili, S. M., Tamba, M. G., Sprunt, S. N., Welch, C., Mehl, G. H., Jákli, A., and Gleeson, J. T.
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Condensed Matter - Soft Condensed Matter - Abstract
We have determined the nematic-isotropic transition temperature as a function of applied magnetic field in three different thermotropic liquid crystalline dimers. These molecules are comprised of two rigid calamitic moieties joined end to end by flexible spacers with odd numbers of methylene groups. They show an unprecedented magnetic field enhancement of nematic order in that the transition temperature is increased by up to 15K when subjected to 22T magnetic field. The increase is conjectured to be caused by a magnetic field-induced decrease of the average bend angle in the aliphatic spacers connecting the rigid mesogenic units of the dimers.
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- 2016
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9. Fluctuation modes of a twist-bend nematic liquid crystal
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Sh, Z. Parsouzi. A., Shamid, S. M., Borshch, V., Challa, P. K., Tamba, M. G., Welch, C., Mehl, G. H., Gleeson, J. T., Jakli, A., Lavrentovich, O. D., Allender, D. W., Selinger, J. V., and Sprunt, S.
- Subjects
Condensed Matter - Soft Condensed Matter - Abstract
We report a dynamic light scattering study of the fluctuation modes in a thermotropic liquid crystalline mixture of monomer and dimer compounds that exhibits the twist-bend nematic ($\mathrm{N_{TB}}$) phase. The results reveal a spectrum of overdamped fluctuations that includes two nonhydrodynamic and one hydrodynamic mode in the $\mathrm{N_{TB}}$ phase, and a single nonhydrodynamic plus two hydrodynamic modes (the usual nematic optic axis or director fluctuations) in the higher temperature, uniaxial nematic phase. The properties of these fluctuations and the conditions for their observation are comprehensively explained by a Landau-deGennes expansion of the free energy density in terms of heliconical director and helical polarization fields that characterize the $\mathrm{N_{TB}}$ structure, with the latter serving as the primary order parameter. A "coarse-graining" approximation simplifies the theoretical analysis, and enables us to demonstrate quantitative agreement between the calculated and experimentally determined temperature dependence of the mode relaxation rates., Comment: 14 pages and 8 figures
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- 2015
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10. Bond percolation on multiplex networks
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Hackett, A., Cellai, D., Gómez, S., Arenas, A., and Gleeson, J. P.
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Physics - Physics and Society ,Computer Science - Social and Information Networks - Abstract
We present an analytical approach for bond percolation on multiplex networks and use it to determine the expected size of the giant connected component and the value of the critical bond occupation probability in these networks. We advocate the relevance of these tools to the modeling of multilayer robustness and contribute to the debate on whether any benefit is to be yielded from studying a full multiplex structure as opposed to its monoplex projection, especially in the seemingly irrelevant case of a bond occupation probability that does not depend on the layer. Although we find that in many cases the predictions of our theory for multiplex networks coincide with previously derived results for monoplex networks, we also uncover the remarkable result that for a certain class of multiplex networks, well described by our theory, new critical phenomena occur as multiple percolation phase transitions are present. We provide an instance of this phenomenon in a multipex network constructed from London rail and European air transportation datasets., Comment: 8 pages, 4 figures
- Published
- 2015
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11. A ferroelectric nematic liquid crystal vitrified at room temperature.
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Adaka, A., Guragain, P., Perera, K., Nepal, P., Almatani, B., Sprunt, S., Gleeson, J., Twieg, R. J., and Jákli, A.
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FERROELECTRIC liquid crystals ,LIQUID crystals ,FERROELECTRIC materials ,HIGH temperatures ,POLAR molecules ,NEMATIC liquid crystals - Abstract
Most of the current highly polar rod-shaped molecules that form ferroelectric nematic (N
F ) phase do so only at elevated temperatures and multicomponent mixtures are generally needed to obtain a broad and room temperature range NF phase. In this work, we describe the synthesis, phase characterisation and measurement of various physical properties of a new ferroelectric nematic compound 4-[(4-nitrophenoxy)carbonyl]phenyl 2-isopropoxy-4-methoxybenzoate (RT11165). The molecular structure of RT11165 with a 2-isopropoxy group differs only by a substitution of the 2-methoxy group found in the prototype ferroelectric nematic material 4-[(4-nitrophenoxy)carbonyl]phenyl 2,4-dimethoxybenzoate (RM734). This small structure change produces a rather dramatic change in phase behaviour leading to an NF phase from 63°C down to room temperature. Below about 45°C the rotational viscosity of RT11165 increases critically and the temperature dependence indicates a glass transition at ~19°C. The transparent and polar glassy state of RT11165, which should be also piezoelectric, is a good candidate for energy storage, piezoecatalysis, data storage and other applications. [ABSTRACT FROM AUTHOR]- Published
- 2024
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12. Twist-bend nematic liquid crystals in high magnetic fields
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Challa, P. K., Borshch, V., Parri, O., Imrie, C. T., Sprunt, S. N., Gleeson, J. T., Lavrentovich, O. D., and Jakli, A.
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Condensed Matter - Soft Condensed Matter - Abstract
We present magneto-optic measurements on two materials that form the recently discovered twist-bend nematic (Ntb) phase. This intriguing state of matter represents a new fluid phase that is orientationally anisotropic in three directions and also exhibits translational order with periodicity several times larger than the molecular size. NTB materials may also spontaneously form a visible, macroscopic stripe texture. We show that the optical stripe texture can be persistently inhibited by a magnetic field, and a 25T external magnetic field depresses the N-Ntb phase transition temperature by almost 1 degree C. We propose a quantitative mechanism to account for this shift and suggest a Helfrich-Hurault-type mechanism for the optical stripe formation., Comment: 12 pages, 4 figures
- Published
- 2014
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13. ENgage YOung people earlY (ENYOY): a mixed-method study design for a digital transdiagnostic clinical – and peer- moderated treatment platform for youth with beginning mental health complaints in the Netherlands
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van Doorn, M., Popma, A., van Amelsvoort, T., McEnery, C., Gleeson, J. F., Ory, F. G., M. W. M., Jaspers, Alvarez-Jimenez, M., and Nieman, D. H.
- Published
- 2021
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14. Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration
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Au, K. S., Hebert, L., Hillman, P., Baker, C., Brown, M. R., Kim, D.-K., Soldano, K., Garrett, M., Ashley-Koch, A., Lee, S., Gleeson, J., Hixson, J. E., Morrison, A. C., and Northrup, H.
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- 2021
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15. Is loneliness a feasible treatment target in psychosis?
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Lim, M. H., Penn, D. L., Thomas, N., and Gleeson, J. F. M.
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- 2020
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16. Developing the Characteristic Spirit of Publicly Managed Schools in a More Secular and Pluralist Ireland
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O'Flaherty, J., McCormack, O., Gleeson, J., O'Reilly, B., O'Grady, E., and Kenny, N.
- Abstract
This discussion paper considers the identification and definition of the 'characteristic spirit' of publicly managed schools in the Republic of Ireland. Some international approaches to values in publicly funded schools are introduced along with relevant contextual aspects of Irish education including the cultural diversity and secularisation of modern Irish society. The Irish Education Act (1998) gives ultimate responsibility for school values and 'characteristic spirit' to the school 'patron', a role legally separate from that of school ownership and school management. The underlying values of privately managed faith-based schools are well established. However, the 'characteristic spirit' of publicly managed Education and Training Board schools remains largely undeveloped. Appropriate responses to this challenge are identified and discussed.
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- 2018
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17. Using policy analysis to explore the reciprocal impact of health policy on public health nursing and public health nursing on policy
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Gleeson, J. A.
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610.73 ,Nursing and Midwifery - Abstract
The overall aim of this study was to explore the reciprocal impact of health policy on public health nursing and public health nursing on policy. This study uses a new approach to considering public health nurses’ engagement in policy: one which puts public health nurses, as actors in the policy process, at the centre of the investigation. The overall philosophical lens through which the research was conducted was critical social theory and the methodology was a grounded theory influenced research design. The study adopted a three stage data collection and analysis process: primary data (questionnaires and interviews), detailed policy analyses of two specific White Papers and secondary data (extant documents). The data were collected and analysed through a grounded theory approach in order to answer four research questions: 1. What do public health nurses know about policy, specifically in relation to two English Department of Health White Papers: Creating A Patient-Led NHS (DOH 2005) and Our Health, Our Care, Our Say (DOH 2006)? 2. How do they engage in the policy process? 3. What affects their implementation of policy? 4. Is there a policy-practice gap? A triangulated approach to data collection and analysis was used. Primary data were collected through questionnaires and follow up telephone interviews with public health nurses (health visitors and school nurses) in four PCTs and one social enterprise in five different geographical areas of England. Further data from detailed policy analyses using frameworks by Popple and Leighninger (2008) and Walt and Gilson (1994) were also considered. Finally, secondary data from extant documents including newspapers, websites and organisational documents were reviewed. At the end of the research process, it was possible to answer the four research questions. In addition to this, new knowledge and theory emerged around three main themes: i) A proposal for a new combined framework for policy analysis which leads to a comprehensive and analytical account of policy content and context combined with a detailed consideration of the role of public health nurses as actors in the policy process. ii) Theories as to why and how public health nurses lack influence in the policy process. iii) Analysis of the effect of lack of resources on inhibiting practice innovation in response to policy agendas. Consideration of these theories led to several recommendations for practice. Throughout the research process, there was continued interaction between the three phases of data collection, analysis and theory development.
- Published
- 2013
18. Electric Nusselt number characterization of electroconvection in nematic liquid crystals
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Gleeson, J. T., Gheorghiu, N., and Plaut, E.
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Nonlinear Sciences - Pattern Formation and Solitons - Abstract
We develop a characterization method of electroconvection structures in a planar nematic liquid crystal layer by a study of the electric current transport. Because the applied potential difference has a sinusoidal time dependence, we define two electric Nusselt numbers corresponding to the in-phase and out-of-phase components of the current. These Nusselt numbers are predicted theoretically using a weakly nonlinear analysis of the standard model. Our measurements of the electric current confirm that both numbers vary linearly with the distance from onset until the occurence of secondary instabilities; these instabilities also have a distinct Nusselt number signature. A systematic comparison between our theoretical and experimental results, using no adjusted parameters, demonstrates reasonable agreement. This represents a quantitative test of the standard model completely independent from traditional, optical techniques of studying electroconvection., Comment: 13 pages, 3 figures; submitted to Europhysics Letters, July, 1999
- Published
- 1999
19. A case of spastic paraplegia type 11 with a variation in the SPG11 gene
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Elmas, Muhsin, Gogus, Basak, Değirmenci, Banu, Solak, Mustafa, and Gleeson, J. G.
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- 2020
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20. Doublecortin maintains bipolar shape and nuclear translocation during migration in the adult forebrain
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Koizumi, H, Higginbotham, H, Poon, T, Tanaka, T, Brinkman, B C, and Gleeson, J G
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The ability of the mature mammalian nervous system to continually produce neuronal precursors is of considerable importance, as manipulation of this process might one day permit the replacement of cells lost as a result of injury or disease. In mammals, the anterior subventricular zone (SVZa) region is one of the primary sites of adult neurogenesis. Here we show that doublecortin (DCX), a widely used marker for newly generated neurons, when deleted in mice results in a severe morphological defect in the rostral migratory stream and delayed neuronal migration that is independent of direction or responsiveness to Slit chemorepulsion. DCX is required for nuclear translocation and maintenance of bipolar morphology during migration of these cells. Our data identifies a critical function for DCX in the movement of newly generated neurons in the adult brain.
- Published
- 2006
21. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
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Valente, E M, Brancat, F, Silhavy, J L, Castori, M, March, S E, Barrano, G, Bertini, E, Boltshauser, E, Zaki, M S, Abdel-Aleem, A, Abdel-Salam, GMH, Bellacchlo, E, Battini, R, Cruse, R P, Dobyns, W B, Krishnamoorthy, K S, Lagier-Tourenne, C, Magee, A, Pascual-Castroviejo, I, Salpietro, C D, Sarco, D, Dallapiccola, B, and Gleeson, J G
- Abstract
Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. Methods: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. Results: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. Interpretation AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.
- Published
- 2006
22. Distinguishing the four genetic causes of Jouberts syndrome-related disorders
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Valente, E M, Marsh, S E, Castori, M, Dixon-Salazar, T, Bertini, E, Al-Gazali, L, Messer, J, Barbot, C, Woods, C G, Boltshauser, E, Al-Tawari, A A, Salpietro, C D, Kayserili, H, Sztriha, L, Gribaa, M, Koenig, M, Dallapiccola, B, and Gleeson, J G
- Abstract
Jouberts syndrome-related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the molar tooth sign of the midbrain-hindbrain junction. Recent analyses have suggested at least three loci, JBTS1 (9q34-3), -2 (11p11.2-q12.3), and -3 (6q23), but the phenotypic spectrum associated with each locus has not been delineated. In addition, deletions of the NPHP1 gene, usually responsible for isolated juvenile nephronophthisis, are occasionally encountered among Jouberts syndrome-related disorder patients. Here, we describe four novel families showing evidence of linkage to two of these loci, provide a 3.6Mb refinement of the JBTS2 locus, and perform a detailed comparison of all linked families identified so far, to define the clinical and radiographical hallmarks for each genetic condition. We find that JBTS1 and -3 primarily show features restricted to the central nervous system, with JBTS1 showing largely pure cerebellar and midbrain-hindbrain junction involvement, and JBTS3 displaying cerebellar, midbrain-hindbrain junction, and cerebral cortical features, most notably polymicrogyria. Conversely, JBTS2 is associated with multiorgan involvement of kidney, retina, and liver, in addition to the central nervous system features, and results in extreme phenotypic variability. This provides a useful framework for genetic testing strategies and prediction of which patients are most likely to experience development of systemic complications.
- Published
- 2005
23. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration
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Tanaka, T, Serneo, F F, Higgins, C, Gambello, M J, Wynshaw-Boris, A, and Gleeson, J G
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migration ,Lis 1 ,doublecortin ,centrosome ,nucleus - Abstract
Humans with mutations in either DCX or LIS1 display nearly identical neuronal migration defects, known as lissencephaly. To define subcellular mechanisms, we have combined in vitro neuronal migration assays with retroviral transduction. Overexpression of wild-type Dcx or Lis1, but not patient-related mutant versions, increased migration rates. Dcx overexpression rescued the migration defect in Lis1(+/-) neurons. Lis1 localized predominantly to the centrosome, and after disruption of microtubules, redistributed to the perinuclear region. Dcx outlined microtubules extending from the perinuclear "cage" to the centrosome. Lis1(+/-) neurons displayed increased and more variable separation between the nucleus and the preceding centrosome during migration. Dynein inhibition resulted in similar defects in both nucleus-centrosome (N-C) coupling and neuronal migration. These N-C coupling defects were rescued by Dcx overexpression, and Dcx was found to complex with dynein. These data indicate Lis1 and Dcx function with dynein to mediate N-C coupling during migration, and suggest defects in this coupling may contribute to migration defects in lissencephaly.
- Published
- 2004
24. The effect of psychological treatment on repetitive negative thinking in youth depression and anxiety: a meta-analysis and meta-regression
- Author
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Bell, IH, Marx, W, Nguyen, K, Grace, S, Gleeson, J, Alvarez-Jimenez, M, Bell, IH, Marx, W, Nguyen, K, Grace, S, Gleeson, J, and Alvarez-Jimenez, M
- Abstract
BACKGROUND: Depression and anxiety are prevalent in youth populations and typically emerge during adolescence. Repetitive negative thinking (RNT) is a putative transdiagnostic mechanism with consistent associations with depression and anxiety. Targeting transdiagnostic processes like RNT for youth depression and anxiety may offer more targeted, personalised and effective treatment. METHODS: A meta-analysis was conducted to examine the effect of psychological treatments on RNT, depression and anxiety symptoms in young people with depression or anxiety, and a meta-regression to examine relationships between outcomes. RESULTS: Twenty-eight randomised controlled trials examining 17 different psychological interventions were included. Effect sizes were small to moderate across all outcomes (Hedge's g depression = -0.47, CI -0.77 to -0.17; anxiety = -0.42, CI -0.65 to -0.20; RNT = -0.45, CI -0.67 to -0.23). RNT-focused and non-RNT focused approaches had comparable effects; however, those focusing on modifying the process of RNT had significantly larger effects on RNT than those focusing on modifying negative thought content. Meta-regression revealed a significant relationship between RNT and depression outcomes only across all intervention types and with both depression and anxiety for RNT focused interventions only. CONCLUSION: Consistent with findings in adults, this review provides evidence that reducing RNT with psychological treatment is associated with improvements in depression and anxiety in youth. Targeting RNT specifically may not lead to better outcomes compared to general approaches; however, focusing on modifying the process of RNT may be more effective than targeting content. Further research is needed to determine causal pathways.
- Published
- 2023
25. Pervasive effects of RNA degradation on Nanopore direct RNA sequencing
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Prawer, YDJ, Gleeson, J, De Paoli-Iseppi, R, Clark, MB, Prawer, YDJ, Gleeson, J, De Paoli-Iseppi, R, and Clark, MB
- Abstract
Oxford Nanopore direct RNA sequencing (DRS) is capable of sequencing complete RNA molecules and accurately measuring gene and isoform expression. However, as DRS is designed to profile intact RNA, expression quantification may be more heavily dependent upon RNA integrity than alternative RNA sequencing methodologies. It is currently unclear how RNA degradation impacts DRS or whether it can be corrected for. To assess the impact of RNA integrity on DRS, we performed a degradation time series using SH-SY5Y neuroblastoma cells. Our results demonstrate that degradation is a significant and pervasive factor that can bias DRS measurements, including a reduction in library complexity resulting in an overrepresentation of short genes and isoforms. Degradation also biases differential expression analyses; however, we find that explicit correction can almost fully recover meaningful biological signal. In addition, DRS provided less biased profiling of partially degraded samples than Nanopore PCR-cDNA sequencing. Overall, we find that samples with RNA integrity number (RIN) > 9.5 can be treated as undegraded and samples with RIN > 7 can be utilized for DRS with appropriate correction. These results establish the suitability of DRS for a wide range of samples, including partially degraded in vivo clinical and post-mortem samples, while limiting the confounding effect of degradation on expression quantification.
- Published
- 2023
26. The teacher as moral educator: comparative study of secondary teachers in Catholic schools in Australia and Ireland
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Gleeson, J. and O'Flaherty, J.
- Published
- 2016
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27. Student Teachers, Socialisation, School Placement and Schizophrenia: The Case of Curriculum Change
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Gleeson, J., O'Flaherty, J., Galvin, T., and Hennessy, J.
- Abstract
The dissonance between the socialisation experiences of student teachers during their own schooling and practicums and university-based teacher education programmes is indicative of the broader theory/practice dichotomy in education. While this dichotomy is of considerable interest to all teacher educators, studies of students' pre- and post-placement professional beliefs are rare. The authors availed of the publication of alternative curriculum pathways for Ireland to investigate the curriculum beliefs of student teachers immediately before and after their final school placement. Important contextual aspects of the study including school and teacher culture and the proposed curriculum pathways are introduced. The stark contrast between student teachers' preferences and their views regarding the feasibility of the various pathways and their commitment to pupil-centred learning are among the main findings of the current study. A positive relationship emerged between respondents' curriculum preferences and their grades in curriculum studies. These emerging themes are considered from the perspectives of student teachers' beliefs about pupil learning, the theory/practice dichotomy and the importance of developing school--university partnerships.
- Published
- 2015
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28. Integrated Refrigeration and Storage of LNG for Compositional Stability
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Rose, L, Swanger, A. M, Notardonato, W. U, Fesmire, J. E, Gleeson, J, and Carro, R
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Fluid Mechanics And Thermodynamics ,Mechanical Engineering - Abstract
Growing interest in liquefied natural gas (LNG) as a rocket fuel necessitates a greater technical understanding of the compositional changes due to preferential boil-off (or weathering) that occurs during long duration storage. The purity of methane in LNG can range from 90 to 98%, and is subject to preferential boil-off due to its low boiling point compared to other constituents despite the use of high-performance thermal insulation systems. Active heat extraction (i.e. refrigeration) is required to completely eliminate weathering. For future operational safety and reliability, and to better understand the quality and efficiency of the LNG as a cryofuel, a 400-liter Cryostat vessel was designed and constructed to measure the composition and temperatures of the LNG at a number of different liquid levels over long durations. The vessel is the centerpiece of a custom-designed lab-scale integrated refrigeration and storage (IRaS) system employing a pulse tube cryocooler capable of roughly 50 W of lift at 100 K. Instrumentation includes ten temperature sensors mounted on a vertical rake and five liquid sample tubes corresponding to five liquid levels. Two modes of operation are studied. The first is without refrigeration in order to determine a baseline in the change in composition, and to study stratification of the LNG. The second is performed with the cryocooler active to determine the operational parameters of the IRaS system for eliminating the weathering as well as stratification effects in the bulk liquid. The apparatus design and test method, as well as preliminary test results are presented in this paper. As a bonus in cost-saving and operational efficiency, the capability of the IRaS system to provide zero-loss capabilities such as zero boil-off (ZBO) keeping of the LNG and zero-loss filling/transfer operations are also discussed.
- Published
- 2019
29. Synchronous diffuse large B cell lymphomas of the endometrium and breast: a staging dilemma
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Gleeson, J. P., Woods, G. B., Watson, G. A., Ryan, J., Doyle, E., Quinn, F., O’Keane, J. C., and McCaffrey, J. A.
- Published
- 2017
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30. Longitudinal Study of Levels of Moral Reasoning of Undergraduate Students in an Irish University: The Influence of Contextual Factors
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O'Flaherty, J. and Gleeson, J.
- Abstract
This paper reports a longitudinal study of levels of moral reasoning in a convenience sample of Irish undergraduate university students, using the Defining Issues Test 2 (DIT2). The study was timely, as higher education institutions are becoming increasingly interested in the promotion of social capital and the development of the whole person. A total of 259 students completed the DIT2 at the beginning, mid-point and conclusion of their degree course. As with similar international studies, increases in levels of moral reasoning over time were statistically significant. However, Irish students' DIT2 scores were markedly lower than their international peers with 62% of graduating students at the pre-conventional and conventional stages. The paper suggests some context-related explanations for the under-performance of Irish students including the instrumentalist nature of Irish post-primary education, the prevailing culture of consensualism, authoritarianism and anti-intellectualism, the conflation of religious and moral education and the emphasis on economic outputs and contractual accountability.
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- 2014
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31. Throsby Creek Stormwater Harvesting for Potable Reuse
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Hydrology and Water Resources Symposium (32nd : 2009 : Newcastle, Australia), McArdle, P, Gleeson, J, Hammond, T, Heslop, E, Holden, R, and Kuczera, G
- Published
- 2009
32. Get the GIST? An overview of gastrointestinal stromal tumours
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Watson, G. A., Kelly, D., Melland-Smith, M., Gleeson, J., McEntee, G., Kelly, C. M., and McCaffrey, J. A.
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- 2016
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33. Beyond Clinical Remission in First Episode Psychosis: Thoughts on Antipsychotic Maintenance vs. Guided Discontinuation in the Functional Recovery Era
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Alvarez-Jimenez, M., O’Donoghue, B., Thompson, A., Gleeson, J. F., Bendall, S., Gonzalez-Blanch, C., Killackey, E., Wunderink, L., and McGorry, P. D.
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- 2016
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34. P-89 Real-world utility of full staging with 18-fluorodeoxyglucose positron emission tomography (18FDG-PET) in addition to standard imaging in patients with non-metastatic non-resectable pancreatic ductal adenocarcinoma (PDAC)
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Wheatley, R., primary, McNamara, M., additional, Gleeson, J., additional, Hubner, R., additional, Manoharan, P., additional, Valle, J., additional, and Lamarca, A., additional
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- 2022
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35. Groundwater-derived dissolved inorganic and organic carbon exports from a mangrove tidal creek : The missing mangrove carbon sink?
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Maher, D. T., Santos, I. R., Golsby-Smith, L., Gleeson, J., and Eyre, B. D.
- Published
- 2013
36. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
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De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa., University of Lausanne (UNIL), University College of London [London] (UCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Children's Hospital [Lahore], Institute of Child Health [Lahore], Children's Hospital [Multan], Institute of Child Health [Multan], National Research Centre - NRC (EGYPT), Howard Hughes Medical Institute (HHMI), Shahid Chamran University of Ahvaz (SCU), Ahvaz Jundishapur University of Medical Sciences (AJUMS), National Institutes of Health [Bethesda] (NIH), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne = University of Lausanne (UNIL), Herrada, Anthony, P., De Nitti, S., Efthymiou, A., Sarre, N., Guex, J., Chrast, A., Putoux, T., Sultan, J., Raza Alvi, Z., Ur Rahman, F., Zafar, N., Rana, F., Rahman, N., Anwar, S., Maqbool, M. S., Zaki, J. G., Gleeson, D., Murphy, H., Galehdari, G., Shariati, N., Mazaheri, A., Sedaghat, G., Lesca, N., Chatron, V., Salpietro, M., Christoforou, H., Houlden, W. F., Simond, T., Pedrazzini, R., Maroofian, A., Reymond, STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Synap, Marinova Karashova, Blagovesta, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, S Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Monteagudo Sanchez, Benigno, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, and Sherifa., Hamed
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Male ,0301 basic medicine ,Developmental Disabilities ,Batecs cardíacs ,0302 clinical medicine ,Neurodevelopmental disorder ,Heart Rate ,Medicine ,Child ,Genetics (clinical) ,Mice, Knockout ,Gnb5-null mouse models ,GTP-Binding Protein beta Subunits ,Cardiac muscle ,Heart ,Syndrome ,IDDCA ,Functional Genomics ,Pedigree ,[SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,cardiac conduction anomalies ,Gnb5 -null mouse models ,GNB5 variants ,medicine.anatomical_structure ,Child, Preschool ,[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Female ,medicine.symptom ,Signal Transduction ,Bradycardia ,Cardiac function curve ,Gnb5 -null mouse model ,medicine.medical_specialty ,Adolescent ,[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics ,Contractility ,Young Adult ,Brain damage ,03 medical and health sciences ,[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system ,GNB5variants ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,Internal medicine ,Exome Sequencing ,Heart rate ,Genetics ,Animals ,Humans ,business.industry ,Gene Expression Profiling ,Heart beat ,Proteins ,Cardiac arrhythmia ,Arrhythmias, Cardiac ,GNB5 variant ,medicine.disease ,Mice, Inbred C57BL ,Autonomic nervous system ,030104 developmental biology ,Endocrinology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Mutation ,Lesions cerebrals ,cardiac conduction anomalie ,business ,Proteïnes ,030217 neurology & neurosurgery - Abstract
BackgroundPathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia.MethodsWe used echocardiography and telemetric ECG recordings to investigate consequences of Gnb5 loss in mouse.ResultsWe delineated a key role of Gnb5 in heart sinus conduction and showed that Gnb5-inhibitory signalling is essential for parasympathetic control of heart rate (HR) and maintenance of the sympathovagal balance. Gnb5−/− mice were smaller and had a smaller heart than Gnb5+/+ and Gnb5+/−, but exhibited better cardiac function. Lower autonomic nervous system modulation through diminished parasympathetic control and greater sympathetic regulation resulted in a higher baseline HR in Gnb5−/− mice. In contrast, Gnb5−/− mice exhibited profound bradycardia on treatment with carbachol, while sympathetic modulation of the cardiac stimulation was not altered. Concordantly, transcriptome study pinpointed altered expression of genes involved in cardiac muscle contractility in atria and ventricles of knocked-out mice. Homozygous Gnb5 loss resulted in significantly higher frequencies of sinus arrhythmias. Moreover, we described 13 affected individuals, increasing the IDDCA cohort to 44 patients.ConclusionsOur data demonstrate that loss of negative regulation of the inhibitory G-protein signalling causes HR perturbations in Gnb5−/− mice, an effect mainly driven by impaired parasympathetic activity. We anticipate that unravelling the mechanism of Gnb5 signalling in the autonomic control of the heart will pave the way for future drug screening.
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- 2020
37. The EMPOWER blended digital intervention for relapse prevention in schizophrenia: a feasibility cluster randomised controlled trial in Scotland and Australia
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Gumley, A, Bradstreet, S, Ainsworth, J, Allan, S, Alvarez-Jimenez, M, Aucott, L, Birchwood, M, Briggs, A, Bucci, S, Cotton, SM, Engel, L, French, P, Lederman, R, Lewis, S, Machin, M, MacLennan, G, McLeod, H, McMeekin, N, Mihalopoulos, C, Morton, E, Norrie, J, Schwannauer, M, Singh, SP, Sundram, S, Thompson, A, Williams, C, Yung, AR, Farhall, J, Gleeson, J, Gumley, A, Bradstreet, S, Ainsworth, J, Allan, S, Alvarez-Jimenez, M, Aucott, L, Birchwood, M, Briggs, A, Bucci, S, Cotton, SM, Engel, L, French, P, Lederman, R, Lewis, S, Machin, M, MacLennan, G, McLeod, H, McMeekin, N, Mihalopoulos, C, Morton, E, Norrie, J, Schwannauer, M, Singh, SP, Sundram, S, Thompson, A, Williams, C, Yung, AR, Farhall, J, and Gleeson, J
- Abstract
BACKGROUND: Early warning signs monitoring by service users with schizophrenia has shown promise in preventing relapse but the quality of evidence is low. We aimed to establish the feasibility of undertaking a definitive randomised controlled trial to determine the effectiveness of a blended digital intervention for relapse prevention in schizophrenia. METHODS: This multicentre, feasibility, cluster randomised controlled trial aimed to compare Early signs Monitoring to Prevent relapse in psychosis and prOmote Well-being, Engagement, and Recovery (EMPOWER) with treatment as usual in community mental health services (CMHS) in Glasgow and Melbourne. CMHS were the unit of randomisation, selected on the basis of those that probably had five or more care coordinators willing to participate. Participants were eligible if they were older than 16 years, had a schizophrenia or related diagnosis confirmed via case records, were able to provide informed consent, had contact with CMHS, and had had a relapse within the previous 2 years. Participants were randomised within stratified clusters to EMPOWER or to continue their usual approach to care. EMPOWER blended a smartphone for active monitoring of early warning signs with peer support to promote self-management and clinical triage to promote access to relapse prevention. Main outcomes were feasibility, acceptability, usability, and safety, which was assessed through face-to-face interviews. App usage was assessed via the smartphone and self-report. Primary end point was 12 months. Participants, research assistants and other team members involved in delivering the intervention were not masked to treatment conditions. Assessment of relapse was done by an independent adjudication panel masked to randomisation group. The study is registered at ISRCTN (99559262). FINDINGS: We identified and randomised eight CMHS (six in Glasgow and two in Melbourne) comprising 47 care coordinators. We recruited 86 service users between Jan 19 and Au
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- 2022
38. Long-Read RNA Sequencing Identifies Polyadenylation Elongation and Differential Transcript Usage of Host Transcripts During SARS-CoV-2 In Vitro Infection
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Chang, JJ-Y, Gleeson, J, Rawlinson, D, De Paoli-Iseppi, R, Zhou, C, Mordant, FL, Londrigan, SL, Clark, MB, Subbarao, K, Stinear, TP, Coin, LJM, Pitt, ME, Chang, JJ-Y, Gleeson, J, Rawlinson, D, De Paoli-Iseppi, R, Zhou, C, Mordant, FL, Londrigan, SL, Clark, MB, Subbarao, K, Stinear, TP, Coin, LJM, and Pitt, ME
- Abstract
Better methods to interrogate host-pathogen interactions during Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infections are imperative to help understand and prevent this disease. Here we implemented RNA-sequencing (RNA-seq) using Oxford Nanopore Technologies (ONT) long-reads to measure differential host gene expression, transcript polyadenylation and isoform usage within various epithelial cell lines permissive and non-permissive for SARS-CoV-2 infection. SARS-CoV-2-infected and mock-infected Vero (African green monkey kidney epithelial cells), Calu-3 (human lung adenocarcinoma epithelial cells), Caco-2 (human colorectal adenocarcinoma epithelial cells) and A549 (human lung carcinoma epithelial cells) were analyzed over time (0, 2, 24, 48 hours). Differential polyadenylation was found to occur in both infected Calu-3 and Vero cells during a late time point (48 hpi), with Gene Ontology (GO) terms such as viral transcription and translation shown to be significantly enriched in Calu-3 data. Poly(A) tails showed increased lengths in the majority of the differentially polyadenylated transcripts in Calu-3 and Vero cell lines (up to ~101 nt in mean poly(A) length, padj = 0.029). Of these genes, ribosomal protein genes such as RPS4X and RPS6 also showed downregulation in expression levels, suggesting the importance of ribosomal protein genes during infection. Furthermore, differential transcript usage was identified in Caco-2, Calu-3 and Vero cells, including transcripts of genes such as GSDMB and KPNA2, which have previously been implicated in SARS-CoV-2 infections. Overall, these results highlight the potential role of differential polyadenylation and transcript usage in host immune response or viral manipulation of host mechanisms during infection, and therefore, showcase the value of long-read sequencing in identifying less-explored host responses to disease.
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- 2022
39. The experience of young people receiving cognitive behavioural therapy for major depression: A qualitative study
- Author
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Ferguson, N, Rice, S, Gleeson, J, Davey, CG, Hetrick, SE, Ferguson, N, Rice, S, Gleeson, J, Davey, CG, and Hetrick, SE
- Abstract
AIM: Major depressive disorder (MDD) has far reaching impacts for young people, their families and society. Cognitive behavioural therapy (CBT) is one of the first-line treatments for young people experiencing MDD; however, there is limited research examining how young people with MDD experience CBT. The aim of this study was to explore their experience and their views of this intervention. METHODS: We employed a qualitative research design, with semi-structured interviews and thematic analysis. Eight participants aged between 17 and 24 years who received CBT for MDD in a randomized controlled trial were recruited. RESULTS: Five themes were identified: the importance of relationship with clinician; the range of useful components within CBT; the ability for CBT to accommodate different techniques and presenting issues; the importance of checking in with clients during the process of therapy; and the impacts of MDD on therapy. CONCLUSIONS: The findings highlight the importance of clinicians having a youth friendly and collaborative approach that allows a modular delivery of a range of CBT techniques to suit the client's presenting issue and formulation. There is a need to continually check how young people are responding to interventions, and to be aware of potential cognitive deficits and adjust therapy accordingly. This is a small study that provides insight into how young people with MDD experience CBT and avenues to explore for tailoring provision of CBT to enhance the therapeutic experience for this population.
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- 2022
40. Moderated digital social therapy for young people with emerging mental health problems: A user-centered mixed-method design and usability study.
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van Doorn, M, Monsanto, A, Boeschoten, CM, van Amelsvoort, T, Popma, A, Öry, FG, Alvarez-Jimenez, M, Gleeson, J, Jaspers, MWM, Nieman, DH, van Doorn, M, Monsanto, A, Boeschoten, CM, van Amelsvoort, T, Popma, A, Öry, FG, Alvarez-Jimenez, M, Gleeson, J, Jaspers, MWM, and Nieman, DH
- Abstract
INTRODUCTION: Over 25% of Dutch young people are psychologically unhealthy. Individual and societal consequences that follow from having mental health complaints at this age are substantial. Young people need care which is often unavailable. ENgage YOung people earlY (ENYOY) is a moderated digital social therapy-platform that aims to help youngsters with emerging mental health complaints. Comprehensive research is being conducted into the effects and to optimize and implement the ENYOY-platform throughout the Netherlands. The aim of this study is to explore the usability and user experience of the ENYOY-platform. METHODS: A user-centered mixed-method design was chosen. 26 young people aged 16-25 with emerging mental health complaints participated. Semi-structured interviews were conducted to explore usability, user-friendliness, impact, accessibility, inclusivity, and connection (Phase 1). Phase 2 assessed usability problems using the concurrent and retrospective Think Aloud-method. User experience and perceived helpfulness were assessed using a 10-point rating scale and semi-structured interviews (Phase 3). The Health Information Technology Usability Evaluation Scale (Health-ITUES; Phase 1) and System Usability Scale (SUS; Phase 2 and 3) were administered. Qualitative data was analyzed using thematic analysis. Task completion rate and time were tracked and usability problems were categorized using the Nielsen's rating scale (Phase 2). RESULTS: Adequate to high usability was found (Phase 1 Health-ITUES 4.0(0.34); Phase 2 SUS 69,5(13,70); Phase 3 SUS 71,6(5,63)). Findings from Phase 1 (N = 10) indicated that users viewed ENYOY as a user-friendly, safe, accessible, and inclusive initiative which helped them reduce their mental health complaints and improve quality of life. Phase 2 (N = 10) uncovered 18 usability problems of which 5 of major severity (e.g. troubles accessing the platform). Findings from Phase 3 (N = 6) suggested that users perceived the coaching calls
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- 2022
41. The dam that Zihni built
- Author
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Australian Engineering Heritage Conference (18th : 2015 : Newcastle, N.S.W.), Lindsay, J, and Gleeson, J
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- 2015
42. Erratum: Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome (The American Journal of Human Genetics (2018) 103(3) (431–439), (S0002929718302374), (10.1016/j.ajhg.2018.07.010))
- Author
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Ghosh, S. G., Becker, K., Huang, H., Salazar, T. D., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmuller, J., Weixler, L., Nurnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., Gleeson, J. G., Human genetics, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, and Amsterdam Reproduction & Development (AR&D)
- Abstract
(The American Journal of Human Genetics 103, 431–439; September 6, 2018) Lisa Weixler has been added to the author list for her experimental and scientific contributions to the biophysical analysis of wild-type and mutant proteins. Her contributions were already mentioned in the acknowledgments. The authors apologize for initially only listing her in the acknowledgments and for the inconvenience. The author list has been corrected online and appears correctly here, and Lisa Weixler's affiliation is indicated as footnote 3: Center for Molecular Medicine Cologne, Cologne, Germany.
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- 2021
43. New Genetic Insights into Cerebral Cortical Development
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Gleeson, J. G., Walsh, C. A., Christen, Yves, editor, Galaburda, A. M., editor, and Christen, Y., editor
- Published
- 1997
- Full Text
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44. New Instabilities in Directional Solidification of Succinonitrile
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Cladis, P. E., Gleeson, J. T., Finn, P. L., Walgraef, D., editor, and Ghoniem, N. M., editor
- Published
- 1990
- Full Text
- View/download PDF
45. Routes to Cell Formation and Hidden Ramps in Directional Solidification
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Cladis, P. E., Finn, P. L., Gleeson, J. T., Busse, F. H., editor, and Kramer, L., editor
- Published
- 1990
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46. Wavelength Selection and Hidden Ramps in Directional Solidification
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Cladis, P. E., Gleeson, J. T., Finn, P. L., Lam, Lui, editor, and Morris, Hedley C., editor
- Published
- 1990
- Full Text
- View/download PDF
47. Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene
- Author
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Conti, V., Pantaleo, M., Barba, C., Baroni, G., Mei, D., Buccoliero, A. M., Giglio, S., Giordano, F., Baek, S. T., Gleeson, J. G., and Guerrini, R.
- Published
- 2015
- Full Text
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48. Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis
- Author
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Zaki, M. S., Selim, L., Mansour, L., Mahmoud, I. G., Fenstermaker, A. G., Gabriel, S. B., and Gleeson, J. G.
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- 2015
- Full Text
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49. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
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Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), and Innes, A. M. (A. Micheil)
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genetic heterogeneity ,genome sequencing ,Dubowitz syndrome ,exome sequencing ,microarray - Abstract
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a “Dubowitz-like” condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.
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- 2021
50. The Horyzons project: a randomized controlled trial of a novel online social therapy to maintain treatment effects from specialist first-episode psychosis services
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Alvarez-Jimenez, M, Koval, P, Schmaal, L, Bendall, S, O'Sullivan, S, Cagliarini, D, D'Alfonso, S, Rice, S, Valentine, L, Penn, D L, Miles, C, Russon, P, Phillips, J, McEnery, C, Lederman, R, Killackey, E, Mihalopoulos, Cathrine, Gonzalez-Blanch, C, Gilbertson, T, Lal, S, Cotton, S M, Herrman, H, McGorry, P D, Gleeson, J F M, Alvarez-Jimenez, M, Koval, P, Schmaal, L, Bendall, S, O'Sullivan, S, Cagliarini, D, D'Alfonso, S, Rice, S, Valentine, L, Penn, D L, Miles, C, Russon, P, Phillips, J, McEnery, C, Lederman, R, Killackey, E, Mihalopoulos, Cathrine, Gonzalez-Blanch, C, Gilbertson, T, Lal, S, Cotton, S M, Herrman, H, McGorry, P D, and Gleeson, J F M
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- 2021
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