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1. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Author

Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, and Andreas Rump

Subjects
TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470
Abstract

Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new and previously published individuals established that ARED14 is primarily characterized by dental anomalies such as conical tooth cusps and hypodontia, like those seen in individuals with WNT10A-related odontoonychodermal dysplasia. AlphaFold-predicted structure-based analysis showed that most of the pathogenic TSPEAR missense variants likely destabilize the β-propeller of the protein. Analysis of 100000 Genomes Project (100KGP) data revealed multiple founder TSPEAR variants across different populations. Mutational and recombination clock analyses demonstrated that non-Finnish European founder variants likely originated around the end of the last ice age, a period of major climatic transition. Analysis of gnomAD data showed that the non-Finnish European population TSPEAR gene-carrier rate is ∼1/140, making it one of the commonest AREDs. Phylogenetic and AlphaFold structural analyses showed that TSPEAR is an ortholog of drosophila Closca, an extracellular matrix-dependent signaling regulator. We, therefore, hypothesized that TSPEAR could have a role in enamel knot, a structure that coordinates patterning of developing tooth cusps. Analysis of mouse single-cell RNA sequencing (scRNA-seq) data revealed highly restricted expression of Tspear in clusters representing enamel knots. A tspeara−/−;tspearb−/− double-knockout zebrafish model recapitulated the clinical features of ARED14 and fin regeneration abnormalities of wnt10a knockout fish, thus suggesting interaction between tspear and wnt10a. In summary, we provide insights into the role of TSPEAR in ectodermal development and the evolutionary history, epidemiology, mechanisms, and consequences of its loss of function variants.

Published
2023
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15. Proteomic profiling reveals ACSS2 facilitating metabolic support in acute myeloid leukemia

Author

Mochmann, Liliana H., Treue, Denise, Bockmayr, Michael, Silva, Patricia, Zasada, Christin, Mastrobuoni, Guido, Bayram, Safak, Forbes, Martin, Jurmeister, Philipp, Liebig, Sven, Blau, Olga, Schleich, Konstanze, Splettstoesser, Bianca, Nordmann, Thierry M., von der Heide, Eva K., Isaakidis, Konstandina, Schulze, Veronika, Busch, Caroline, Siddiq, Hafsa, Schlee, Cornelia, Hester, Svenja, Fransecky, Lars, Neumann, Martin, Kempa, Stefan, Klauschen, Frederick, and Baldus, Claudia D.

Published
2024
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25. Multiscale mapping of transcriptomic signatures for cardiotoxic drugs

Author

Hansen, Jens, Xiong, Yuguang, Siddiq, Mustafa M., Dhanan, Priyanka, Hu, Bin, Shewale, Bhavana, Yadaw, Arjun S., Jayaraman, Gomathi, Tolentino, Rosa E., Chen, Yibang, Martinez, Pedro, Beaumont, Kristin G., Sebra, Robert, Vidovic, Dusica, Schürer, Stephan C., Goldfarb, Joseph, Gallo, James M., Birtwistle, Marc R., Sobie, Eric A., Azeloglu, Evren U., Berger, Seth I., Chan, Angel, Schaniel, Christoph, Dubois, Nicole C., and Iyengar, Ravi

Published
2024
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37. Behaviour of muslim consumer towards halal food products: a review and bibliometric analysis

Author

Abdul Khader A.A Aneesh and Abbokar Siddiq

Subjects
Food processing and manufacture, TP368-456
Abstract

This study reviews factors affecting Muslim consumer behavior towards halal food products, using bibliometric analysis to identify key research trends and influential works in the field. A bibliometric analysis was conducted on 613 peer-reviewed articles from the Scopus database (2015-2024), using VOSviewer to visualize co-citation, keyword clusters, and research themes. The analysis reveals that religious beliefs, halal certification trust, and perceived product quality are key drivers of halal food purchasing behavior. Interest in halal products is growing globally, appealing to both Muslim and non-Muslim consumers due to perceived ethical and safety standards. The study identifies top contributors, influential journals, and leading countries in halal food research. Insights suggest further exploration into halal certification for alternative proteins, sustainability, and comparative studies across diverse regions. The findings are useful for researchers and businesses targeting the global halal market. This study provides a comprehensive bibliometric review of halal consumer behavior, highlighting trends and research gaps. It is essential for those seeking to understand the evolving dynamics of the halal food sector. Keywords: Halal Food, Consumer Behavior, Halal Certification, Bibliometric Analysis, VOSviewer

Published
2024
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38. Herbal extracts in orofacial pain: a systematic review and direct and indirect meta-analysis

Author

Sara Delgadillo Barrera, Lilia Jadith Bernal Cepeda, David Augusto Díaz Báez, Jennifer Kwon, Abdelmonem Siddiq, Jaime Eduardo Castellanos Parra, Anand Marya, and Akhilanand Chaurasia

Subjects
Herbal, Pain, Orofacial, Oral, Non-pharmacological, Medicine, Science
Abstract

Abstract The pharmaceutical industry has been primarily focused on developing synthetic drugs to address orofacial pain (OFP)-related conditions. There is limited knowledge regarding the efficacy of the use of herbal extracts in treating OFP. A systematic review and a meta-analysis of 62 randomized controlled trials assessing the analgesic effects of herbal extracts on pain intensity in various orofacial conditions was conducted. The intervention comprised the use of herbal extracts compared with a placebo and/or standard treatment. The primary outcome was pain intensity assessed before and after the intervention. The pain scores were compared with the baseline scores in each treatment. When compared with standard therapy, the pooled results of the patients who received herbal extracts revealed lower pain intensity in periodontal pain (MD = -0.92[-6.69, 4.85]), oral surgery pain (MD = 18.80[8.80, 28.79]), oral neuropathic pain (MD = 20.34[6.16, 34.52]), endodontic pain (MD = -8.04[-11.72, -4.37]), oral mucosal pain (MD = 8.74[2.76, 14.73]), and temporomandibular pain (MD = 30.94[6.04, 55.83]). The findings indicated a pain-attenuating effect of herbal extracts such as cannabis, turmeric, capsaicin, licorice, ginger, chamomile, clove, Hypericum perforatum, and Arnica montana. These findings revindicate that herbal extracts may be valuable alternatives to traditional pain medications and promising source for the development of new active ingredients for pharmaceuticals.

Published
2024
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39. Tricuspid valve replacement with mechanical versus biological prostheses: a systematic review and meta-analysis

Author

Muhammad Abdul Qadeer, Ali Abdullah, Amber Noorani, Abdul Hadi Khan, Muhammad Saqlain Mustafa, Zain Ali Nadeem, Shahzaib Samad, Muhammad Usama Siddiq, Rabeeya Qutub Uddin Siddiqui, and Sameh M. Said

Subjects
Tricuspid valve replacement, Mechanical valve, Bioprosthetic valve, Clinical outcomes, Meta-analysis, Long term survival, Surgery, RD1-811, Anesthesiology, RD78.3-87.3
Abstract

Abstract Background and objective Tricuspid valve replacement (TVR) is required when repair is not feasible, and it continues to be a relatively high-risk procedure owing to the complex medical and/or surgical profile of patients. The choice between mechanical and biological prostheses for TVR remains a subject of debate owing to their distinct advantages and disadvantages. This study aimed to analyse and compare the clinical outcomes of these two types of prostheses in the tricuspid position. Methods PubMed, EMBASE, Web of Science, and the COCHRANE library were searched from 1995 to April 2023 for studies comparing clinical outcomes of mechanical versus biological valves in the tricuspid position. Data on 30-day mortality, reoperations, 5-year valve failure rates, thrombotic/thromboembolic events, and long-term survival were extracted, pooled, and analysed. Forest plots were generated using a random-effects model. Results From an initial pool of 4716 citations, 37 studies meeting our inclusion criteria were assessed, collectively encompassing 8316 prostheses (3796 mechanical, 4520 bioprostheses). Our analysis revealed that mechanical valves exhibited a non-significant trend towards diminished 30-day mortality (RR = 0.85, 95% CI = 0.69–1.06). A distinct disparity emerged in valve durability, with mechanical valves demonstrating a significantly increased risk of 5-year valve failure (RR = 2.21, 95% CI = 1.38–3.56). Strikingly, mechanical valves displayed a substantial six-fold elevated risk of thrombotic events (RR = 6.29, 95% CI = 3.98–9.92). In contrast, the long-term survival and reoperation rates demonstrated no statistically significant differences between the two valve types. Conclusions This systematic review and meta-analysis provides insights into the selection of mechanical and bioprosthetic valves for TVR. These findings highlight the potential advantages and disadvantages of mechanical and bioprosthetic valves in terms of early mortality, valve durability, and thrombotic risk. Our analysis provides clinicians with evidence-based guidance for optimizing outcomes in TVR, offering a foundation for informed decision-making in this intricate surgical landscape. Despite these insights, clinicians must overcome the limitations of retrospective studies, evolving healthcare, and anticoagulant disparities to ensure careful consideration in tricuspid valve replacement decisions.

Published
2024
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40. Profiling Teacher Educators: Ready to Prepare the Next Generation for Educational Technology Use?

Author

Müge Adnan, Jo Tondeur, Ronny Scherer, and Fazilat Siddiq

Abstract

This study explores ICT profiles of teacher educators to understand personal, pedagogical and organisational factors affecting technology use in teacher education. After delineating latent profiles based on survey data, 12 teacher educators were interviewed on technology integration in educational settings for a deeper insight. Based on the Synthesis of Qualitative Research model developed to outline strategies for preparing preservice teachers to integrate technology, findings revealed key issues including teacher educators' classroom stance as role models for effective technology use, importance of technological-pedagogical content knowledge in designing technology-enriched learning environments, peer collaboration and avoidance of using technology regardless of pedagogical concerns. Issues related to assessment, professional development, attitudes and ICT competency were raised. Findings are discussed considering potential consequences for current practices and areas of future research.

Published
2024
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41. New Kid on the Block? A Conceptual Systematic Review of Digital Agency

Author

Fazilat Siddiq, Fredrik Mørk Røkenes, Andreas Lund, and Ronny Scherer

Abstract

The digitalisation of education has been emphasised over the last two decades, affecting and developing both the theories and practices of teaching and learning. Considering these developments, the need for addressing teachers' and students' digital competence has gained ground. In the last few years, the concept of digital agency has been noted in empirical and theoretical research - broadly focusing on the integration of information and communication technologies (ICT) in education. Nonetheless, how digital agency is understood and how it relates to the more established concept of digital competence remains unclear. To address this gap, we conducted a conceptual systematic review and examined the current state of the knowledge on digital agency. Specifically, we review the conceptualisations of digital agency, its underlying theoretical frameworks, and how it relates to digital competence and similar concepts. Database searches resulted in 32 publications, with the majority published in education and design journals and stemming from Scandinavian countries. Our findings show that out of 32 studies, only one aimed at defining digital agency explicitly. Nevertheless, for the last three years, digital agency has been more frequently used in the body of literature, emphasising the design and transformation of teaching and learning with technology towards a 'new normal' considering the post-pandemic era and lessons learned. Reviewing the extant body of knowledge on digital agency, we review the strengths and weaknesses of the concept and compare it to the more established notion of digital competence. Finally, we discuss implications for policy, research, and practice in education.

Published
2024
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42. The Potential of International Large-Scale Assessments for Meta-Analyses in Education

Author

Ronny Scherer, Fazilat Siddiq, and Trude Nilsen

Abstract

Meta-analyses and international large-scale assessments (ILSA) are key sources for informing educational policy, research, and practice. While many critical research questions could be addressed by drawing evidence from both of these sources, meta-analysts seldom integrate ILSAs, and current integration practices lack methodological guidance. The aim of this methodological review is therefore to synthesize and illustrate the principles and practices of including ILSA data in meta-analyses. Specifically, we (a) review four ILSA data inclusion approaches (analytic steps, potential, challenges); (b) examine whether and how existing meta-analyses included ILSA data; and (c) provide a hands-on illustrative example of how to implement the four approaches. Seeing the need for meta-analyses on educational inequalities, we situated the review and illustration in the context of gender differences and socioeconomic gaps in student achievement. Ultimately, we outline the steps meta-analysts could take to utilize the potential and address the challenges of ILSA data for meta-analyses in education.

Published
2024
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