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3. Dynamic paramagnon-polarons in altermagnets

Author

Steward, Charles R. W., Fernandes, Rafael M., and Schmalian, Joerg

Subjects
Condensed Matter - Strongly Correlated Electrons, Condensed Matter - Mesoscale and Nanoscale Physics
Abstract

The combined rotational and time-reversal symmetry breakings that define an altermagnet lead to an unusual d-wave (or g-wave) magnetization order parameter, which in turn can be modeled in terms of multipolar magnetic moments. Here, we show that such an altermagnetic order parameter couples to the dynamics of the lattice even in the absence of an external magnetic field. This coupling is analogous to the non-dissipative Hall viscosity and describes the stress generated by a time-varying strain under broken time-reversal symmetry. We demonstrate that this effect generates a hybridized paramagnon-polaron mode, which allows one to assess altermagnetic excitations directly from the phonon spectrum. Using a scaling analysis, we also demonstrate that the dynamic strain coupling strongly affects the altermagnetic phase boundary, but in different ways in the thermal and quantum regimes. In the ground state for both 2D and 3D systems, we find that a hardening of the altermagnon mode leads to an extended altermagnetic ordered regime, whereas for non-zero temperatures in 2D, the softening of the phonon modes leads to increased fluctuations that lower the altermagnetic transition temperature. In 3D even at finite temperatures the dominant effect is the suppression of quantum fluctuations. We also discuss the application of these results to standard ferromagnetic systems., Comment: 15 pages, 7 figures. Generalised to two-dimensional systems and corrected one figure, added section on static coupling and gap closing of phonon and magnon spectra

Published
2023
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7. Climate change and epilepsy: Insights from clinical and basic science studies

Author

Gulcebi, Medine I, Bartolini, Emanuele, Lee, Omay, Lisgaras, Christos Panagiotis, Onat, Filiz, Mifsud, Janet, Striano, Pasquale, Vezzani, Annamaria, Hildebrand, Michael S, Jimenez-Jimenez, Diego, Junck, Larry, Lewis-Smith, David, Scheffer, Ingrid E, Thijs, Roland D, Zuberi, Sameer M, Blenkinsop, Stephen, Fowler, Hayley J, Foley, Aideen, Sisodiya, Sanjay M, Consortium, on behalf of the EpilepsyClimateChange, Balestrini, Simona, Berkovic, Samuel, Cavalleri, Gianpiero, Correa, Daniel José, Custodio, Helena Martins, Galovic, Marian, Guerrini, Renzo, Henshall, David, Howard, Olga, Hughes, Kelvin, Katsarou, Anna, Koeleman, Bobby PC, Krause, Roland, Lowenstein, Daniel, Mandelenaki, Despoina, Marini, Carla, O'Brien, Terence J, Pace, Adrian, De Palma, Luca, Perucca, Piero, Pitkänen, Asla, Quinn, Finola, Selmer, Kaja Kristine, Steward, Charles A, Swanborough, Nicola, Thijs, Roland, Tittensor, Phil, Trivisano, Marina, Weckhuysen, Sarah, and Zara, Federico

Subjects
Biomedical and Clinical Sciences, Neurosciences, Epilepsy, Climate-Related Exposures and Conditions, Global Warming Climate Change, Brain Disorders, Climate Change, Sleep Research, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Climate Action, Animals, COVID-19, Death, Sudden, Global Health, Hot Temperature, Humans, Humidity, Public Health, Sleep Deprivation, Weather, Global warming, Emergency, Seizure, Temperature, Extreme weather events, Public health, Epilepsy Climate Change Consortium, Clinical Sciences, Neurology & Neurosurgery, Biological psychology, Clinical and health psychology
Abstract

Climate change is with us. As professionals who place value on evidence-based practice, climate change is something we cannot ignore. The current pandemic of the novel coronavirus, SARS-CoV-2, has demonstrated how global crises can arise suddenly and have a significant impact on public health. Global warming, a chronic process punctuated by acute episodes of extreme weather events, is an insidious global health crisis needing at least as much attention. Many neurological diseases are complex chronic conditions influenced at many levels by changes in the environment. This review aimed to collate and evaluate reports from clinical and basic science about the relationship between climate change and epilepsy. The keywords climate change, seasonal variation, temperature, humidity, thermoregulation, biorhythm, gene, circadian rhythm, heat, and weather were used to search the published evidence. A number of climatic variables are associated with increased seizure frequency in people with epilepsy. Climate change-induced increase in seizure precipitants such as fevers, stress, and sleep deprivation (e.g. as a result of more frequent extreme weather events) or vector-borne infections may trigger or exacerbate seizures, lead to deterioration of seizure control, and affect neurological, cerebrovascular, or cardiovascular comorbidities and risk of sudden unexpected death in epilepsy. Risks are likely to be modified by many factors, ranging from individual genetic variation and temperature-dependent channel function, to housing quality and global supply chains. According to the results of the limited number of experimental studies with animal models of seizures or epilepsy, different seizure types appear to have distinct susceptibility to seasonal influences. Increased body temperature, whether in the context of fever or not, has a critical role in seizure threshold and seizure-related brain damage. Links between climate change and epilepsy are likely to be multifactorial, complex, and often indirect, which makes predictions difficult. We need more data on possible climate-driven altered risks for seizures, epilepsy, and epileptogenesis, to identify underlying mechanisms at systems, cellular, and molecular levels for better understanding of the impact of climate change on epilepsy. Further focussed data would help us to develop evidence for mitigation methods to do more to protect people with epilepsy from the effects of climate change.

Published
2021

9. Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci

Author

Lilue, Jingtao, Doran, Anthony G, Fiddes, Ian T, Abrudan, Monica, Armstrong, Joel, Bennett, Ruth, Chow, William, Collins, Joanna, Collins, Stephan, Czechanski, Anne, Danecek, Petr, Diekhans, Mark, Dolle, Dirk-Dominik, Dunn, Matt, Durbin, Richard, Earl, Dent, Ferguson-Smith, Anne, Flicek, Paul, Flint, Jonathan, Frankish, Adam, Fu, Beiyuan, Gerstein, Mark, Gilbert, James, Goodstadt, Leo, Harrow, Jennifer, Howe, Kerstin, Ibarra-Soria, Ximena, Kolmogorov, Mikhail, Lelliott, Chris J, Logan, Darren W, Loveland, Jane, Mathews, Clayton E, Mott, Richard, Muir, Paul, Nachtweide, Stefanie, Navarro, Fabio CP, Odom, Duncan T, Park, Naomi, Pelan, Sarah, Pham, Son K, Quail, Mike, Reinholdt, Laura, Romoth, Lars, Shirley, Lesley, Sisu, Cristina, Sjoberg-Herrera, Marcela, Stanke, Mario, Steward, Charles, Thomas, Mark, Threadgold, Glen, Thybert, David, Torrance, James, Wong, Kim, Wood, Jonathan, Yalcin, Binnaz, Yang, Fengtang, Adams, David J, Paten, Benedict, and Keane, Thomas M

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Animals, Animals, Laboratory, Chromosome Mapping, Genetic Loci, Genome, Haplotypes, Mice, Mice, Inbred BALB C, Mice, Inbred C3H, Mice, Inbred C57BL, Mice, Inbred CBA, Mice, Inbred DBA, Mice, Inbred NOD, Mice, Inbred Strains, Molecular Sequence Annotation, Phylogeny, Polymorphism, Single Nucleotide, Species Specificity, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involved in pathogen defence and immunity and exhibit enrichment of transposable elements and signatures of recent retrotransposition events. Combinations of alleles and genes unique to an individual strain are commonly observed at these loci, reflecting distinct strain phenotypes. We used these genomes to improve the mouse reference genome, resulting in the completion of 10 new gene structures. Also, 62 new coding loci were added to the reference genome annotation. These genomes identified a large, previously unannotated, gene (Efcab3-like) encoding 5,874 amino acids. Mutant Efcab3-like mice display anomalies in multiple brain regions, suggesting a possible role for this gene in the regulation of brain development.

Published
2018

11. Climate change and epilepsy: Insights from clinical and basic science studies

Author

Balestrini, Simona, Berkovic, Samuel, Cavalleri, Gianpiero, Correa, Daniel José, Martins Custodio, Helena, Galovic, Marian, Guerrini, Renzo, Henshall, David, Howard, Olga, Hughes, Kelvin, Katsarou, Anna, Koeleman, Bobby P.C., Krause, Roland, Lowenstein, Daniel, Mandelenaki, Despoina, Marini, Carla, O’Brien, Terence J., Pace, Adrian, De Palma, Luca, Perucca, Piero, Pitkänen, Asla, Quinn, Finola, Selmer, Kaja Kristine, Steward, Charles A., Swanborough, Nicola, Thijs, Roland, Tittensor, Phil, Trivisano, Marina, Weckhuysen, Sarah, Zara, Federico, Gulcebi, Medine I., Bartolini, Emanuele, Lee, Omay, Lisgaras, Christos Panagiotis, Onat, Filiz, Mifsud, Janet, Striano, Pasquale, Vezzani, Annamaria, Hildebrand, Michael S., Jimenez-Jimenez, Diego, Junck, Larry, Lewis-Smith, David, Scheffer, Ingrid E., Thijs, Roland D., Zuberi, Sameer M., Blenkinsop, Stephen, Fowler, Hayley J., Foley, Aideen, and Sisodiya, Sanjay M.

Published
2021
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12. Central Pulse Wave Velocity and Augmentation Index Are Repeatable and Reproducible Measures of Arterial Function.

Author

Russell, Sophie L., Rahman, Mushidur, Steward, Charles J., Harwood, Amy E., McGregor, Gordon, Banerjee, Prithwish, Okwose, Nduka C., and Jakovljevic, Djordje G.

Subjects
PULSE wave analysis, ARTERIAL diseases, FEMORAL artery, INTRACLASS correlation, CARDIOVASCULAR diseases risk factors
Abstract

Background and Aims: Arterial function (specifically arterial stiffness) is an important cardiovascular risk factor. Pulse wave velocity (PWV) and augmentation index (Alx $x$) are established indicators of arterial function. The present study aimed to evaluate the repeatability and reproducibility of PWV and Alx $x$ in healthy individuals. Methods: Forty healthy participants (age 33 ± 11 years, 17 females) underwent resting supine PWV and Alx $x$ assessments. Measurements were made in triplicate and repeated 1 week apart. Alx $x$ was measured by brachial occlusion and PWV was measured from the carotid artery to the femoral artery via the tonometer‐oscillometric method. Repeatability and reproducibility were assessed using the intraclass correlation coefficient (ICC). Interoperator reproducibility was performed on 10 participants. Results: The average values for week‐to‐week visits for PWV and Alx $x$ were 6.20 ± 0.91 versus 6.13 ± 0.91 ms−1 and 14.0 ± 11.8 versus 16.3 ± 12.2% respectively. For same‐day measurements, both PWV and Alx $x$ showed excellent repeatability (PWV: ICC = 0.96, 95% CI: 0.92–0.98, p < 0.01; Alx $x$: ICC = 0.90, 95% CI: 0.84–0.94, p < 0.01) and interoperator reproducibility (PWV: ICC = 0.98, 95% CI: 0.93–1.00, p < 0.01; Alx $x$: ICC = 0.93, 95% CI: 0.69–0.98, p < 0.01). Measurements were repeated 1 week apart and showed good reproducibility (PWV: ICC = 0.77, 95% CI: 0.61–0.87, p ≤ 0.01; Alx $x$: ICC = 0.73, 95% CI: 0.73–0.86, p < 0.01). Conclusion: PWV and Alx $x$ demonstrate excellent repeatability and good reproducibility. Considering these variables are noninvasive and easy‐to‐measure, arterial function assessment may have a role in routine clinical practice to facilitate risk stratification in cardiovascular diseases. Summary: PWV and Alx $x$ are repeatable and reproducible measures of arterial functionPWV is more repeatable and reproducible than Alx $x$ but requires training before operation [ABSTRACT FROM AUTHOR]

Published
2024
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13. Post‐exercise hot or cold water immersion does not alter perception of effort or neuroendocrine responses during subsequent moderate‐intensity exercise.

Author

Menzies, Campbell, Clarke, Neil D., Pugh, Christopher J. A., Steward, Charles J., Thake, C. Douglas, and Cullen, Tom

Subjects
WATER immersion, RATE of perceived exertion, PHYSICAL mobility, ANAEROBIC threshold, BLOOD flow, ENDURANCE athletes
Abstract

Post‐exercise hot (HWI) and cold (CWI) water immersion are popular strategies used by athletes in a range of sporting contexts, such as enhancing recovery or adaptation. However, prolonged heating bouts increase neuroendocrine responses that are associated with perceptions of fatigue. Fourteen endurance‐trained runners performed three trials consisting of two 45‐min runs at 95% lactate threshold on a treadmill separated by 6 h of recovery. Following the first run, participants completed one of HWI (30 min, 40°C), CWI (15 min, 14°C) or control (CON, 30 min rest in ambient conditions) in a randomised order. Perceived effort and recovery were measured using ratings of perceived exertion (RPE) and the Acute Recovery and Stress Scale (ARSS), whilst physiological responses including venous concentrations of a range of neuroendocrine markers, superficial femoral blood flow, heart rate and rectal temperature were measured. Exercise increased neuroendocrine responses of interleukin‐6, adrenaline and noradrenaline (all P < 0.001). Additionally, perceptions of overall recovery (P < 0.001), mental performance capacity (P = 0.02), physical performance capability (P = 0.01) and emotional balance (P = 0.03) were reduced prior to the second run. However, there was no effect of condition on these variables (P > 0.05), nor RPE (P = 0.68), despite differences in rectal temperature, superficial femoral blood flow following the first run, and participants' expected recovery prior to the intervention (all P < 0.001). Therefore, athletes may engage in post‐exercise hot or cold‐water immersion without negatively impacting moderate‐intensity training sessions performed later the same day. What is the central question of this study?Does post‐exercise heating or cooling alter recovery and perception of effort during subsequent exercise?What is the main finding and its importance?Neither post‐exercise heating nor post‐exercise cooling altered perceived recovery or perception of effort during subsequent exercise, despite heating inducing large increases in blood flow to the lower limbs. Contrary to our hypotheses, neither heating nor cooling had any impact on inflammatory or neuroendocrine responses in plasma. Post‐exercise heating does not appear to exacerbate fatigue as previously suggested in other studies. [ABSTRACT FROM AUTHOR]

Published
2024
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14. Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis

Author

Carton, Robert J., primary, Doyle, Michael G., additional, Kearney, Hugh, additional, Steward, Charles A., additional, Lench, Nicholas J., additional, Rogers, Anthony, additional, Heinzen, Erin L., additional, McDonald, Seamus, additional, Fay, Joanna, additional, Lacey, Austin, additional, Beausang, Alan, additional, Cryan, Jane, additional, Brett, Francesca, additional, El‐Naggar, Hany, additional, Widdess‐Walsh, Peter, additional, Costello, Daniel, additional, Kilbride, Ronan, additional, Doherty, Colin P., additional, Sweeney, Kieron J., additional, O'Brien, Donncha F., additional, Henshall, David C., additional, Delanty, Norman, additional, Cavalleri, Gianpiero L., additional, and Benson, Katherine A., additional

Published
2024
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16. A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

Author

Benson, Katherine A., White, Maire, Allen, Nicholas M., Byrne, Susan, Carton, Robert, Comerford, Elizabeth, Costello, Daniel, Doherty, Colin, Dunleavey, Brendan, El-Naggar, Hany, Gangadharan, Nisha, Heavin, Sinéad, Kearney, Hugh, Lench, Nicholas J., Lynch, John, McCormack, Mark, Regan, Mary O’, Podesta, Karl, Power, Kevin, Rogers, Anthony S., Steward, Charles A., Sweeney, Brian, Webb, David, Fitzsimons, Mary, Greally, Marie, Delanty, Norman, and Cavalleri, Gianpiero L.

Published
2020
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17. Characterization of an Additional Splice Acceptor Site Introduced into CYP4B1 in Hominoidae during Evolution.

Author

Schmidt, Eva M, Wiek, Constanze, Parkinson, Oliver T, Roellecke, Katharina, Freund, Marcel, Gombert, Michael, Lottmann, Nadine, Steward, Charles A, Kramm, Christof M, Yarov-Yarovoy, Vladimir, Rettie, Allan E, and Hanenberg, Helmut

Subjects
Animals, Rabbits, Humans, Terpenes, Aryl Hydrocarbon Hydroxylases, Serine, RNA Splice Sites, Mutagenesis, Insertional, Enzyme Stability, Cell Death, Alternative Splicing, Models, Molecular, Adult, Hep G2 Cells, Biological Evolution, HEK293 Cells, General Science & Technology
Abstract

CYP4B1 belongs to the cytochrome P450 family 4, one of the oldest P450 families whose members have been highly conserved throughout evolution. The CYP4 monooxygenases typically oxidize fatty acids to both inactive and active lipid mediators, although the endogenous ligand(s) is largely unknown. During evolution, at the transition of great apes to humanoids, the CYP4B1 protein acquired a serine instead of a proline at the canonical position 427 in the meander region. Although this alteration impairs P450 function related to the processing of naturally occurring lung toxins, a study in transgenic mice suggested that an additional serine insertion at position 207 in human CYP4B1 can rescue the enzyme stability and activity. Here, we report that the genomic insertion of a CAG triplet at the intron 5-exon 6 boundary in human CYP4B1 introduced an additional splice acceptor site in frame. During evolution, this change occurred presumably at the stage of Hominoidae and leads to two major isoforms of the CYP4B1 enzymes of humans and great apes, either with or without a serine 207 insertion (insSer207). We further demonstrated that the CYP4B1 enzyme with insSer207 is the dominant isoform (76%) in humans. Importantly, this amino acid insertion did not affect the 4-ipomeanol metabolizing activities or stabilities of the native rabbit or human CYP4B1 enzymes, when introduced as transgenes in human primary cells and cell lines. In our 3D modeling, this functional neutrality of insSer207 is compatible with its predicted location on the exterior surface of CYP4B1 in a flexible side chain. Therefore, the Ser207 insertion does not rescue the P450 functional activity of human CYP4B1 that has been lost during evolution.

Published
2015

19. Presleep Heart-Rate Variability Biofeedback Improves Mood and Sleep Quality in Chinese Winter Olympic Bobsleigh Athletes.

Author

Li, QinLong, Steward, Charles J., Cullen, Tom, Che, Kaixuan, and Zhou, Yue

Subjects
STATURE, AFFECT (Psychology), CONFIDENCE intervals, AUTONOMIC nervous system, BIOFEEDBACK training, SLEEP, RANDOMIZED controlled trials, PRE-tests & post-tests, COMPARATIVE studies, HEART beat, DESCRIPTIVE statistics, MENTAL depression, QUESTIONNAIRES, SPORTS events, BODY mass index, CROSSOVER trials, FATIGUE (Physiology)
Abstract

Purpose: To evaluate the effectiveness of heart-rate variability (HRV) biofeedback in improving autonomic function, mood, and sleep in elite bobsleigh athletes. Methods: Eight Chinese Winter Olympic bobsleigh athletes (age: 24 [2] y, body mass: 89 [15] kg, and height: 184 [5] cm) completed a randomized crossover study with and without HRV biofeedback before a single night's sleep. HRV biofeedback was provided 35 minutes prior to bedtime in the experimental condition. The assessment of HRV took place 45 and 10 minutes before bedtime. The Profile of Mood States questionnaire was completed 50 and 15 minutes prior to bedtime. Sleep duration and quality were measured through an air-mattress sleep-monitoring system. Results: Sleep efficiency (P =.020; F = 7.831; CI, 0.008 to 0.072) and the percentage of deep sleep duration increased (P =.013; F = 10.875; CI, 0.006 to 0.035), while the percentage of light sleep decreased (P =.034; F = 6.893; CI, −0.038 to −0.002). Presleep HRV biofeedback increased parasympathetic and decreased sympathetic activity. Mood states of anger (P =.006, F = 7.573), panic (P =.031, F = 4.288), tension (P =.011, F = 6.284), depression (P =.010, F = 6.016), fatigue (P =.000, F = 16.901), and total mood disturbance (P =.001, F = 11.225) were reduced before sleep. Conclusion: Presleep HRV biofeedback improved some measures of autonomic function, mood, and sleep quality in Chinese Olympic bobsleigh athletes. Presleep HRV biofeedback provides a practical strategy that may help reduce sleep disturbances during periods of training and competition. [ABSTRACT FROM AUTHOR]

Published
2022
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20. Current status and new features of the Consensus Coding Sequence database.

Author

Farrell, Catherine, OLeary, Nuala, Harte, Rachel, Loveland, Jane, Wilming, Laurens, Wallin, Craig, Diekhans, Mark, Barrell, Daniel, Searle, Stephen, Aken, Bronwen, Hiatt, Susan, Frankish, Adam, Suner, Marie-Marthe, Rajput, Bhanu, Steward, Charles, Brown, Garth, Bennett, Ruth, Murphy, Michael, Wu, Wendy, Kay, Mike, Hart, Jennifer, Rajan, Jeena, Weber, Janet, Snow, Catherine, Riddick, Lillian, Hunt, Toby, Webb, David, Thomas, Mark, Tamez, Pamela, Rangwala, Sanjida, McGarvey, Kelly, Pujar, Shashikant, Shkeda, Andrei, Mudge, Jonathan, Gonzalez, Jose, Gilbert, James, Trevanion, Stephen, Baertsch, Robert, Harrow, Jennifer, Hubbard, Tim, Ostell, James, Pruitt, Kim, and Haussler, David

Subjects
Animals, Databases, Genetic, Exons, Genomics, Humans, Internet, Mice, Molecular Sequence Annotation, Proteins, Sequence Analysis
Abstract

The Consensus Coding Sequence (CCDS) project (http://www.ncbi.nlm.nih.gov/CCDS/) is a collaborative effort to maintain a dataset of protein-coding regions that are identically annotated on the human and mouse reference genome assemblies by the National Center for Biotechnology Information (NCBI) and Ensembl genome annotation pipelines. Identical annotations that pass quality assurance tests are tracked with a stable identifier (CCDS ID). Members of the collaboration, who are from NCBI, the Wellcome Trust Sanger Institute and the University of California Santa Cruz, provide coordinated and continuous review of the dataset to ensure high-quality CCDS representations. We describe here the current status and recent growth in the CCDS dataset, as well as recent changes to the CCDS web and FTP sites. These changes include more explicit reporting about the NCBI and Ensembl annotation releases being compared, new search and display options, the addition of biologically descriptive information and our approach to representing genes for which support evidence is incomplete. We also present a summary of recent and future curation targets.

Published
2014

24. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Author

Steward, Charles A., Roovers, Jolien, Suner, Marie-Marthe, Gonzalez, Jose M., Uszczynska-Ratajczak, Barbara, Pervouchine, Dmitri, Fitzgerald, Stephen, Viola, Margarida, Stamberger, Hannah, Hamdan, Fadi F., Ceulemans, Berten, Leroy, Patricia, Nava, Caroline, Lepine, Anne, Tapanari, Electra, Keiller, Don, Abbs, Stephen, Sanchis-Juan, Alba, Grozeva, Detelina, Rogers, Anthony S., Diekhans, Mark, Guigó, Roderic, Petryszak, Robert, Minassian, Berge A., Cavalleri, Gianpiero, Vitsios, Dimitrios, Petrovski, Slavé, Harrow, Jennifer, Flicek, Paul, Lucy Raymond, F., Lench, Nicholas J., Jonghe, Peter De, Mudge, Jonathan M., Weckhuysen, Sarah, Sisodiya, Sanjay M., and Frankish, Adam

Published
2019
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31. Increasing The Supply of Medical Personnel: Needs and Alternatives. Evaluative Studies Series.

Author

American Enterprise Inst. for Public Policy Research, Washington, DC., Steward, Charles T., and Siddayao, Corazon M.

Abstract

This paper considers medical personnel shortages, especially the shortage of physicians, and the different ways to alleviate these shortages. Chapter I gives a brief history (1963-1972) of legislation intended to increase medical manpower supply and Chapter II discusses the causes of the shortage, analyzing the elements affecting demand for medical care in recent years and the elements affecting supply. Chapter III analyzes the possible need for Federal subsidies, pointing out the short-term nature of the problem and the long-term effects of Federal solutions. It also discusses the maldistribution in the supply of medical manpower by geographical area and among specialties. Ways of increasing the productivity of present supply through more efficient utilization are outlined in Chapter IV, while Chapter V questions the priority placed on manpower supply in the struggle to upgrade the level of national health and suggests alternative courses of action. (Author/SB)

Published
1973

32. Genome-wide end-sequenced BAC resources for the NOD/MrkTac☆ and NOD/ShiLtJ☆☆ mouse genomes

Author

Steward, Charles A., Humphray, Sean, Plumb, Bob, Jones, Matthew C., Quail, Michael A., Rice, Stephen, Cox, Tony, Davies, Rob, Bonfield, James, Keane, Thomas M., Nefedov, Michael, de Jong, Pieter J., Lyons, Paul, Wicker, Linda, Todd, John, Hayashizaki, Yoshihide, Gulban, Omid, Danska, Jayne, Harrow, Jen, Hubbard, Tim, Rogers, Jane, and Adams, David J.

Published
2010
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33. Whole-genome sequencing of patients with rare diseases in a national health system

Author

Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska, University of Cambridge [UK] (CAM), John Wyeth & Brother Limited, Medical Research Council (MRC), Wellcome Trust, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, and Project, NIHR BioResource for the 100,000 Genomes

Subjects
0301 basic medicine, Erythrocytes, Internationality, Databases, Factual, National Health Programs, [SDV]Life Sciences [q-bio], Disease, VARIANTS, Genome, State Medicine, NIHR BioResource for the 100,000 Genomes Project, 0302 clinical medicine, Medicine, GATA1 Transcription Factor, Genetics, Multidisciplinary, Translational bioinformatics, ASSOCIATION, 3. Good health, Multidisciplinary Sciences, Phenotype, 030220 oncology & carcinogenesis, disease genetics, Medical genetics, Science & Technology - Other Topics, Receptors, Thrombopoietin, medicine.medical_specialty, General Science & Technology, Quantitative Trait Loci, Genomics, Computational biology, Biology, DIAGNOSIS, computational biology and bioinformatics, Actin-Related Protein 2-3 Complex, Article, LRBA, LINKS, 03 medical and health sciences, Rare Diseases, Humans, Alleles, Adaptor Proteins, Signal Transducing, Whole genome sequencing, National health, Science & Technology, Whole Genome Sequencing, MUTATIONS, business.industry, THROMBOCYTOPENIA, United Kingdom, MACROTHROMBOCYTOPENIA, genetics research, 030104 developmental biology, business, Rare disease
Abstract

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.

Published
2021
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35. Validity and reliability of short‐term heart‐rate variability from disposable electrocardiography leads.

Author

Okwose, Nduka C., Russell, Sophie L., Rahman, Mushidur, Steward, Charles J., Harwood, Amy E., McGregor, Gordon, Ninkovic, Srdjan, Maddock, Helen, Banerjee, Prithwish, and Jakovljevic, Djordje G.

Subjects
HEART beat, INTRACLASS correlation, ROOT-mean-squares, ELECTROCARDIOGRAPHY
Abstract

Background and Aims: Single‐use electrocardiography (ECG) leads have been developed to reduce healthcare‐associated infection. This study compared the validity and reliability of short‐term heart rate variability (HRV) obtained from single‐use disposable ECG leads. Methods: Thirty healthy subjects (33 ± 10 years; 9 females) underwent 5‐min resting HRV assessments using disposable (single use) ECG cable and wire system (Kendall DL™ Cardinal Health) and a standard, reusable ECG leads (CardioExpress, Spacelabs Healthcare). Results: Intraclass correlation coefficient (ICC) with 95% confidence interval (CI) between disposable and reusable ECG leads was for the time domain [R‐R interval (ms); 0.99 (0.91, 1.00)], the root mean square of successive normal R‐R interval differences (RMSSD) (ms); 0.91 (0.76, 0.96), the SD of normal‐to‐normal R‐R intervals (SDNN) (ms); 0.91 (0.68, 0.97) and frequency domain [low‐frequency (LF) normalized units (nu); 0.90 (0.79, 0.95), high frequency (HF) nu; 0.91 (0.80, 0.96), LF power (ms2); 0.89 (0.62, 0.96), HF power (ms2); 0.90 (0.72, 0.96)] variables. The mean difference and upper and lower limits of agreement between disposable and reusable leads for time‐ and frequency‐domain variables were acceptable. Analysis of repeated measures using disposable leads demonstrated excellent reproducibility (ICC 95% CI) for R‐R interval (ms); 0.93 (0.85, 0.97), RMSSD (ms); 0.93 (0.85, 0.97), SDNN (ms); 0.88 (0.75, 0.95), LF power (ms2); 0.87 (0.72, 0.94), and HF power (ms2); 0.88 (0.73, 0.94) with coefficient of variation ranging from 2.2% to 5% (p > 0.37 for all variables). Conclusion: Single‐use Kendall DL™ ECG leads demonstrate a valid and reproducible tool for the assessment of HRV. [ABSTRACT FROM AUTHOR]

Published
2023
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38. The future of genomics in Ireland – focus on genomics for health [version 1; peer review: 2 approved]

Author

Seoighe, Cathal, Bracken, Adrian P, Buckley, Patrick, Doran, Peter, Green, Robert, Healy, Sandra, Kavanagh, David, Kenny, Elaine, Lawler, Mark, Lowery, Maeve, Morris, Derek, Morrissey, Darrin, O'Byrne, James J, Shields, Denis, Smith, Owen, Steward, Charles A, Sweeney, Brian, and Kolch, Walter

Subjects
patient involvement, genome research, health-economic assessment of clinical genomics, lcsh:R, precision/personalized medicine, lcsh:Medicine, Genomics, societal and economic aspects of genome research, ethics of genome research, national genomics strategy
Abstract

Genomics is revolutionizing biomedical research, medicine and healthcare globally in academic, public and industry sectors alike. Concrete examples around the world show that huge benefits for patients, society and economy can be accrued through effective and responsible genomic research and clinical applications. Unfortunately, Ireland has fallen behind and needs to act now in order to catch up. Here, we identify key issues that have resulted in Ireland lagging behind, describe how genomics can benefit Ireland and its people and outline the measures needed to make genomics work for Ireland and Irish patients. There is now an urgent need for a national genomics strategy that enables an effective, collaborative, responsible, well-regulated, and patient centred environment where genome research and clinical genomics can thrive. We present eight recommendations that could be the pillars of a national genomics health strategy.

Published
2020
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39. Climate change and epilepsy: Insights from clinical and basic science studies

Author

Gulcebi, Medine I., Bartolini, Emanuele, Lee, Omay, Lisgaras, Christos Panagiotis, Onat, Filiz, Mifsud, Janet, Striano, Pasquale, Vezzani, Annamaria, Hildebrand, Michael S., Jimenez-Jimenez, Diego, Junck, Larry, Lewis-Smith, David, Scheffer, Ingrid E., Thijs, Roland D., Zuberi, Sameer M., Blenkinsop, Stephen, Fowler, Hayley J., Foley, Aideen, Balestrini, Simona, Berkovic, Samuel, Cavalleri, Gianpiero, Correa, Daniel José, Custodio, Helena Martins, Galovic, Marian, Guerrini, Renzo, Henshall, David, Howard, Olga, Hughes, Kelvin, Katsarou, Anna, Koeleman, Bobby P. C., Krause, Roland, Lowenstein, Daniel, Mandelenaki, Despoina, Marini, Carla, O'Brien, Terence J., Pace, Adrian, Palma, Luca De, Perucca, Piero, Pitkänen, Asla, Quinn, Finola, Selmer, Kaja Kristine, Steward, Charles A., Swanborough, Nicola, Thijs, Roland, Tittensor, Phil, Trivisano, Marina, Weckhuysen, Sarah, Zara, Federico, Sisodiya, Sanjay M., Gulcebi, Medine I., Bartolini, Emanuele, Lee, Omay, Lisgaras, Christos Panagiotis, Onat, Filiz, Mifsud, Janet, Striano, Pasquale, Vezzani, Annamaria, Hildebrand, Michael S., Jimenez-Jimenez, Diego, Junck, Larry, Lewis-Smith, David, Scheffer, Ingrid E., Thijs, Roland D., Zuberi, Sameer M., Blenkinsop, Stephen, Fowler, Hayley J., Foley, Aideen, Balestrini, Simona, Berkovic, Samuel, Cavalleri, Gianpiero, Correa, Daniel José, Custodio, Helena Martins, Galovic, Marian, Guerrini, Renzo, Henshall, David, Howard, Olga, Hughes, Kelvin, Katsarou, Anna, Koeleman, Bobby P. C., Krause, Roland, Lowenstein, Daniel, Mandelenaki, Despoina, Marini, Carla, O'Brien, Terence J., Pace, Adrian, Palma, Luca De, Perucca, Piero, Pitkänen, Asla, Quinn, Finola, Selmer, Kaja Kristine, Steward, Charles A., Swanborough, Nicola, Thijs, Roland, Tittensor, Phil, Trivisano, Marina, Weckhuysen, Sarah, Zara, Federico, and Sisodiya, Sanjay M.

Abstract

Climate change is with us. As professionals who place value on evidence-based practice, climate change is something we cannot ignore. The current pandemic of the novel coronavirus, SARS-CoV-2, has demonstrated how global crises can arise suddenly and have a significant impact on public health. Global warming, a chronic process punctuated by acute episodes of extreme weather events, is an insidious global health crisis needing at least as much attention. Many neurological diseases are complex chronic conditions influenced at many levels by changes in the environment. This review aimed to collate and evaluate reports from clinical and basic science about the relationship between climate change and epilepsy. The keywords climate change, seasonal variation, temperature, humidity, thermoregulation, biorhythm, gene, circadian rhythm, heat, and weather were used to search the published evidence. A number of climatic variables are associated with increased seizure frequency in people with epilepsy. Climate change-induced increase in seizure precipitants such as fevers, stress, and sleep deprivation (e.g. as a result of more frequent extreme weather events) or vector-borne infections may trigger or exacerbate seizures, lead to deterioration of seizure control, and affect neurological, cerebrovascular, or cardiovascular comorbidities and risk of sudden unexpected death in epilepsy. Risks are likely to be modified by many factors, ranging from individual genetic variation and temperature-dependent channel function, to housing quality and global supply chains. According to the results of the limited number of experimental studies with animal models of seizures or epilepsy, different seizure types appear to have distinct susceptibility to seasonal influences. Increased body temperature, whether in the context of fever or not, has a critical role in seizure threshold and seizure-related brain damage. Links between climate change and epilepsy are likely to be multifactorial, compl

Published
2021

40. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

Author

Zody, Michael C., Garber, Manuel, Adams, David J., Sharpe, Ted, Harrow, Jennifer, Lupski, James R., Nicholson, Christine, Searle, Steven M., Wilming, Laurens, Young, Sarah K., Abouelleil, Amr, Allen, Nicole R., Bi, Weimin, Bloom, Toby, Borowsky, Mark L., Bugalter, Boris E., Butler, Jonathan, Chang, Jean L., Chen, Chao-Kung, Cook, April, Corum, Benjamin, Cuomo, Christina A., de Jong, Pieter J., DeCaprio, David, Dewar, Ken, FitzGerald, Michael, Gilbert, James, Gibson, Richard, Gnerre, Sante, Goldstein, Steven, Grafham, Darren V., Grocock, Russell, Hafez, Nabil, Hagopian, Daniel S., Hart, Elizabeth, Norman, Catherine Hosage, Humphray, Sean, Jaffe, David B., Jones, Matt, Kamal, Michael, Khodiyar, Varsha K., LaButti, Kurt, Laird, Gavin, Lehoczky, Jessica, Liu, Xiaohong, Lokyitsang, Tashi, Loveland, Jane, Lui, Annie, Macdonald, Pendexter, Major, John E., Matthews, Lucy, Mauceli, Evan, McCarroll, Steven A., Mihalev, Atanas H., Mudge, Jonathan, Nguyen, Cindy, Nicol, Robert, O'Leary, Sinéad B., Osoegawa, Kazutoyo, Schwartz, David C., Shaw-Smith, Charles, Stankiewicz, Pawel, Steward, Charles, Swarbreck, David, Venkataraman, Vijay, Whittaker, Charles A., Yang, Xiaoping, Zimmer, Andrew R., Bradley, Allan, Hubbard, Tim, Birren, Bruce W., Rogers, Jane, Lander, Eric S., and Nusbaum, Chad

Published
2006
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41. Climate change and epilepsy: Insights from clinical and basic science studies

Author

Gulcebi, Medine I., primary, Bartolini, Emanuele, additional, Lee, Omay, additional, Lisgaras, Christos Panagiotis, additional, Onat, Filiz, additional, Mifsud, Janet, additional, Striano, Pasquale, additional, Vezzani, Annamaria, additional, Hildebrand, Michael S., additional, Jimenez-Jimenez, Diego, additional, Junck, Larry, additional, Lewis-Smith, David, additional, Scheffer, Ingrid E., additional, Thijs, Roland D., additional, Zuberi, Sameer M., additional, Blenkinsop, Stephen, additional, Fowler, Hayley J., additional, Foley, Aideen, additional, Sisodiya, Sanjay M., additional, Balestrini, Simona, additional, Berkovic, Samuel, additional, Cavalleri, Gianpiero, additional, Correa, Daniel José, additional, Martins Custodio, Helena, additional, Galovic, Marian, additional, Guerrini, Renzo, additional, Henshall, David, additional, Howard, Olga, additional, Hughes, Kelvin, additional, Katsarou, Anna, additional, Koeleman, Bobby P.C., additional, Krause, Roland, additional, Lowenstein, Daniel, additional, Mandelenaki, Despoina, additional, Marini, Carla, additional, O’Brien, Terence J., additional, Pace, Adrian, additional, De Palma, Luca, additional, Perucca, Piero, additional, Pitkänen, Asla, additional, Quinn, Finola, additional, Selmer, Kaja Kristine, additional, Steward, Charles A., additional, Swanborough, Nicola, additional, Thijs, Roland, additional, Tittensor, Phil, additional, Trivisano, Marina, additional, Weckhuysen, Sarah, additional, and Zara, Federico, additional

Published
2021
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42. The DNA sequence of the human X chromosome

Author

Ross, Mark T., Grafham, Darren V., Coffey, Alison J., Scherer, Steven, McLay, Kirsten, Muzny, Donna, Platzer, Matthias, Howell, Gareth R., Burrows, Christine, Bird, Christine P., Frankish, Adam, Lovell, Frances L., Howe, Kevin L., Ashurst, Jennifer L., Fulton, Robert S., Sudbrak, Ralf, Wen, Gaiping, Jones, Matthew C., Hurles, Matthew E., Andrews, T. Daniel, Scott, Carol E., Searle, Stephen, Ramser, Juliane, Whittaker, Adam, Deadman, Rebecca, Carter, Nigel P., Hunt, Sarah E., Chen, Rui, Cree, Andrew, Gunaratne, Preethi, Havlak, Paul, Hodgson, Anne, Metzker, Michael L., Richards, Stephen, Scott, Graham, Steffen, David, Sodergren, Erica, Wheeler, David A., Worley, Kim C., Ainscough, Rachael, Ambrose, Kerrie D., Ansari-Lari, M. Ali, Aradhya, Swaroop, Ashwell, Robert I. S., Babbage, Anne K., Bagguley, Claire L., Ballabio, Andrea, Banerjee, Ruby, Barker, Gary E., Barlow, Karen F., Barrett, Ian P., Bates, Karen N., Beare, David M., Beasley, Helen, Beasley, Oliver, Beck, Alfred, Bethel, Graeme, Blechschmidt, Karin, Brady, Nicola, Bray-Allen, Sarah, Bridgeman, Anne M., Brown, Andrew J., Brown, Mary J., Bonnin, David, Bruford, Elspeth A., Buhay, Christian, Burch, Paula, Burford, Deborah, Burgess, Joanne, Burrill, Wayne, Burton, John, Bye, Jackie M., Carder, Carol, Carrel, Laura, Chako, Joseph, Chapman, Joanne C., Chavez, Dean, Chen, Ellson, Chen, Guan, Chen, Yuan, Chen, Zhijian, Chinault, Craig, Ciccodicola, Alfredo, Clark, Sue Y., Clarke, Graham, Clee, Chris M., Clegg, Sheila, Clerc-Blankenburg, Kerstin, Clifford, Karen, Cobley, Vicky, Cole, Charlotte G., Conquer, Jen S., Corby, Nicole, Connor, Richard E., David, Robert, Davies, Joy, Davis, Clay, Davis, John, Delgado, Oliver, DeShazo, Denise, Dhami, Pawandeep, Ding, Yan, Dinh, Huyen, Dodsworth, Steve, Draper, Heather, Dugan-Rocha, Shannon, Dunham, Andrew, Dunn, Matthew, Durbin, K. James, Dutta, Ireena, Eades, Tamsin, Ellwood, Matthew, Emery-Cohen, Alexandra, Errington, Helen, Evans, Kathryn L., Faulkner, Louisa, Francis, Fiona, Frankland, John, Fraser, Audrey E., Galgoczy, Petra, Gilbert, James, Gill, Rachel, Glockner, Gernot, Gregory, Simon G., Gribble, Susan, Griffiths, Coline, Grocock, Russell, Gu, Yanghong, Gwilliam, Rhian, Hamilton, Cerissa, Hart, Elizabeth A., Hawes, Alicia, Heath, Paul D., Heitmann, Katja, Hennig, Steffen, Hernandez, Judith, Hinzmann, Bernd, Ho, Sarah, Hoffs, Michael, Howden, Phillip J., Huckle, Elizabeth J., Hume, Jennifer, Hunt, Paul J., Hunt, Adrienne R., Isherwood, Judith, Jacob, Leni, Johnson, David, Jones, Sally, de Jong, Pieter J., Joseph, Shirin S., Keenan, Stephen, Kelly, Susan, Kershaw, Joanne K., Khan, Ziad, Kioschis, Petra, Klages, Sven, Knights, Andrew J., Kosiura, Anna, Kovar-Smith, Christie, Laird, Gavin K., Langford, Cordelia, Lawlor, Stephanie, Leversha, Margaret, Lewis, Lora, Liu, Wen, Lloyd, Christine, Lloyd, David M., Loulseged, Hermela, Loveland, Jane E., Lovell, Jamieson D., Lozado, Ryan, Lu, Jing, Lyne, Rachael, Ma, Jie, Maheshwari, Manjula, Matthews, Lucy H., McDowall, Jennifer, McLaren, Stuart, McMurray, Amanda, Meidl, Patrick, Meitinger, Thomas, Milne, Sarah, Miner, George, Mistry, Shailesh L., Morgan, Margaret, Morris, Sidney, Muller, Ines, Mullikin, James C., Nguyen, Ngoc, Nordsiek, Gabriele, Nyakatura, Gerald, O'Dell, Christopher N., Okwuonu, Geoffery, Palmer, Sophie, Pandian, Richard, Parker, David, Parrish, Julia, Pasternak, Shiran, Patel, Dina, Pearce, Alex V., Pearson, Danita M., Pelan, Sarah E., Perez, Lesette, Porter, Keith M., Ramsey, Yvonne, Reichwald, Kathrin, Rhodes, Susan, Ridler, Kerry A., Schlessinger, David, Schueler, Mary G., Sehra, Harminder K., Shaw-Smith, Charles, Shen, Hua, Sheridan, Elizabeth M., Shownkeen, Ratna, Skuce, Carl D., Smith, Michelle L., Sotheran, Elizabeth C., Steingruber, Helen E., Steward, Charles A., Storey, Roy, Swann, R. Mark, Swarbreck, David, Tabor, Paul E., Taudien, Stefan, Taylor, Tineace, Teague, Brian, Thomas, Karen, Thorpe, Andrea, Timms, Kirsten, Tracey, Alan, Trevanion, Steve, Tromans, Anthony C., d'Urso, Michele, Verduzco, Daniel, Villasana, Donna, Waldron, Lenee, Wall, Melanie, Wang, Qiaoyan, Warren, James, Warry, Georgina L., Wei, Xuehong, West, Anthony, Whitehead, Siobhan L., Whiteley, Mathew N., Wilkinson, Jane E., Willey, David L., Williams, Gabrielle, Williams, Leanne, Williamson, Angela, Williamson, Helen, Wilming, Laurens, Woodmansey, Rebecca L., Wray, Paul W., Yen, Jennifer, Zhang, Jingkun, Zhou, Jianling, Zoghbi, Huda, Zorilla, Sara, Buck, David, Reinhardt, Richard, Poustka, Annemarie, Rosenthal, Andre, Lehrach, Hans, Meindl, Alfons, Minx, Patrick J., Hillier, LaDeana W., Willard, Huntington F., Wilson, Richard K., Waterston, Robert H., Rice, Catherine M., Vaudin, Mark, Coulson, Alan, Nelson, David L., Weinstock, George, Sulston, John E., Durbin, Richard, Hubbard, Tim, Gibbs, Richard A., Beck, Stephan, Rogers, Jane, and Bentley, David R.

Subjects
Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Mark T. Ross (corresponding author) [1]; Darren V. Grafham [1]; Alison J. Coffey [1]; Steven Scherer [2]; Kirsten McLay [1]; Donna Muzny [2]; Matthias Platzer [3]; Gareth R. Howell [...]

Published
2005
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45. Mouse genomic variation and its effect on phenotypes and gene regulation

Author

Keane, Thomas M., Goodstadt, Leo, Danecek, Petr, White, Michael A., Wong, Kim, Yalcin, Binnaz, Heger, Andreas, Agam, Avigail, Slater, Guy, Goodson, Martin, Furlotte, Nicholas A., Eskin, Eleazar, Nellåker, Christoffer, Whitley, Helen, Cleak, James, Janowitz, Deborah, Hernandez-Pliego, Polinka, Edwards, Andrew, Belgard, Grant T., Oliver, Peter L., McIntyre, Rebecca E., Bhomra, Amarjit, Nicod, Jérôme, Gan, Xiangchao, Yuan, Wei, van der Weyden, Louise, Steward, Charles A., Bala, Sendu, Stalker, Jim, Mott, Richard, Durbin, Richard, Jackson, Ian J., Czechanski, Anne, Guerra-Assunção, José Afonso, Donahue, Leah Rae, Reinholdt, Laura G., Payseur, Bret A., Ponting, Chris P., Birney, Ewan, Flint, Jonathan, and Adams, David J.

Published
2011
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47. Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Author

Steward, Charles A., primary, Roovers, Jolien, additional, Suner, Marie-Marthe, additional, Gonzalez, Jose M., additional, Uszczynska-Ratajczak, Barbara, additional, Pervouchine, Dmitri, additional, Fitzgerald, Stephen, additional, Viola, Margarida, additional, Stamberger, Hannah, additional, Hamdan, Fadi F., additional, Ceulemans, Berten, additional, Leroy, Patricia, additional, Nava, Caroline, additional, Lepine, Anne, additional, Tapanari, Electra, additional, Keiller, Don, additional, Abbs, Stephen, additional, Sanchis-Juan, Alba, additional, Grozeva, Detelina, additional, Rogers, Anthony S., additional, Wright, James, additional, Choudhary, Jyoti, additional, Diekhans, Mark, additional, Guigó, Roderic, additional, Petryszak, Robert, additional, Minassian, Berge A., additional, Cavalleri, Gianpiero, additional, Vitsios, Dimitrios, additional, Petrovski, Slavé, additional, Harrow, Jennifer, additional, Flicek, Paul, additional, Raymond, F. Lucy, additional, Lench, Nicholas J., additional, De Jonghe, Peter, additional, Mudge, Jonathan M., additional, Weckhuysen, Sarah, additional, Sisodiya, Sanjay M., additional, and Frankish, Adam, additional

Published
2019
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48. Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic Mice

Author

Fraser, Heather I, Howlett, Sarah, Clark, Jan, Rainbow, Daniel B, Stanford, Stephanie M, Wu, Dennis J, Hsieh, Yi-Wen, Maine, Christian J, Christensen, Mikkel, Kuchroo, Vijay, Sherman, Linda A, Podolin, Patricia L, Todd, John A, Steward, Charles A, Peterson, Laurence B, Bottini, Nunzio, Wicker, Linda S, and Apollo - University of Cambridge Repository

Subjects
B-Lymphocytes, T-Lymphocytes, Molecular Sequence Data, CD2 Antigens, Mice, Transgenic, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Chromosomes, Mammalian, Polymorphism, Single Nucleotide, Mice, Diabetes Mellitus, Type 1, Gene Expression Regulation, Genetic Loci, Mice, Inbred NOD, Immunogenetics, Animals, Humans, Genetic Predisposition to Disease, Alleles, Signal Transduction
Abstract

By congenic strain mapping using autoimmune NOD.C57BL/6J congenic mice, we demonstrated previously that the type 1 diabetes (T1D) protection associated with the insulin-dependent diabetes (Idd)10 locus on chromosome 3, originally identified by linkage analysis, was in fact due to three closely linked Idd loci: Idd10, Idd18.1, and Idd18.3. In this study, we define two additional Idd loci--Idd18.2 and Idd18.4--within the boundaries of this cluster of disease-associated genes. Idd18.2 is 1.31 Mb and contains 18 genes, including Ptpn22, which encodes a phosphatase that negatively regulates T and B cell signaling. The human ortholog of Ptpn22, PTPN22, is associated with numerous autoimmune diseases, including T1D. We, therefore, assessed Ptpn22 as a candidate for Idd18.2; resequencing of the NOD Ptpn22 allele revealed 183 single nucleotide polymorphisms with the C57BL/6J (B6) allele--6 exonic and 177 intronic. Functional studies showed higher expression of full-length Ptpn22 RNA and protein, and decreased TCR signaling in congenic strains with B6-derived Idd18.2 susceptibility alleles. The 953-kb Idd18.4 locus contains eight genes, including the candidate Cd2. The CD2 pathway is associated with the human autoimmune disease, multiple sclerosis, and mice with NOD-derived susceptibility alleles at Idd18.4 have lower CD2 expression on B cells. Furthermore, we observed that susceptibility alleles at Idd18.2 can mask the protection provided by Idd10/Cd101 or Idd18.1/Vav3 and Idd18.3. In summary, we describe two new T1D loci, Idd18.2 and Idd18.4, candidate genes within each region, and demonstrate the complex nature of genetic interactions underlying the development of T1D in the NOD mouse model.

Published
2015

49. Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy

Author

Schoeler, Natasha E., primary, Leu, Costin, additional, Balestrini, Simona, additional, Mudge, Jonathan M., additional, Steward, Charles A., additional, Frankish, Adam, additional, Leung, Mary-Anne, additional, Mackay, Mark, additional, Scheffer, Ingrid, additional, Williams, Ruth, additional, Sander, Josemir W., additional, Cross, J. Helen, additional, and Sisodiya, Sanjay M., additional

Published
2018
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50. Fire Potential in Arkansas through the Lens of the Keetch-Byram Drought Index

Author

Steward, Charles Daly

Subjects
Keetch-Byram Drought Index, Vegetation fires, climate-fire relationship, Geographic Information Sciences, Geography, Remote Sensing, Social and Behavioral Sciences
Abstract

Vegetation fires are a complicated phenomenon to predict both the occurrence and intensity. In the United States, fire behavior has been widely studied in high-risk regions such as in the American West, but fires also occur regularly in states that receive greater levels of precipitation, such as Arkansas. Fires are an expensive and dangerous environmental problem. As climate trends caused by global warming continue to progress, quantifying the extent to which climate factors influence their occurrence in Arkansas would be useful for land management, public safety, public health, agriculture, urban development, and to advance the science of fire-climate dynamics in the American South. In this study, fires are evaluated using the Visible Infrared Imaging Radiometer (VIIRS) monthly active fires dataset, which is used to determine fire season peak. Land use/land cover (LULC) classifications in the state of Arkansas are analyzed to determine whether the climate-fire relationship varies according to predominant land covers. Finally, this study will explore the relationships between fire occurrence and climate variables using the Keetch-Byram Drought Index (KBDI) that incorporates temperature and precipitation to provide an outlook of fire risk. KBDI is commonly used for fire risk assessment in the US, but it’s unclear if the index can be relied on to assess fire risk in Arkansas or whether it provides different levels of reliability according to predominant landscape. KBDI in this study was calculated using Google Earth Engine in JavaScript, which facilitates consultation of daily KBDI estimates for Arkansas to the public.

Published
2024

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