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151. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Published
2024

152. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Abstract

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.

Published
2024

153. Understanding Trajectory Behavior: A Motion Pattern Approach

Author

Kalayeh, Mahdi M., Mussmann, Stephen, Petrakova, Alla, Lobo, Niels da Vitoria, and Shah, Mubarak

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Mining the underlying patterns in gigantic and complex data is of great importance to data analysts. In this paper, we propose a motion pattern approach to mine frequent behaviors in trajectory data. Motion patterns, defined by a set of highly similar flow vector groups in a spatial locality, have been shown to be very effective in extracting dominant motion behaviors in video sequences. Inspired by applications and properties of motion patterns, we have designed a framework that successfully solves the general task of trajectory clustering. Our proposed algorithm consists of four phases: flow vector computation, motion component extraction, motion component's reachability set creation, and motion pattern formation. For the first phase, we break down trajectories into flow vectors that indicate instantaneous movements. In the second phase, via a Kmeans clustering approach, we create motion components by clustering the flow vectors with respect to their location and velocity. Next, we create motion components' reachability set in terms of spatial proximity and motion similarity. Finally, for the fourth phase, we cluster motion components using agglomerative clustering with the weighted Jaccard distance between the motion components' signatures, a set created using path reachability. We have evaluated the effectiveness of our proposed method in an extensive set of experiments on diverse datasets. Further, we have shown how our proposed method handles difficulties in the general task of trajectory clustering that challenge the existing state-of-the-art methods.

Published
2015

154. Vocabulary Learning Strategies through Secondary Students at Saudi School in Malaysia

Author

Yaacob, Aizan, Shapii, Aspalila, Saad Alobaisy, Ayman, Al-Rahmi, Waleed Mugah, Al-Dheleai, Yahya M., Yahaya, Noraffandy, and Alamri, Mahdi M.

Abstract

This study is dedicated to the research of vocabulary learning strategies (VLSs) employed by a group of Saudi Arabian learners in an EFL (English as a foreign language) context. The rationale for the study is to clarify a pronounced lack of research on the EFL context in Saudi Schools Abroad (SSA), and a dearth of prior research into VLSs in this context. In particular, this research intends to explore how do students at Saudi School Malaysia (SSM) employ VLSs in their actual learning process. Therefore, this study is conducted on cognitive theory of learning studies, the mental processes involved in the learning process. Moreover, this study conducted an analysis of studies dedicated to VLSs through secondary students at Saudi school in Malaysia based on previous research problems of models and theories. In addition, this study applied quantitative approach, and the questionnaire was conducted using 105 students. The results of this study revealed the percentage and frequency have further underscored this role and the significance of vocabulary learning in both students and teachers. Also, the results show that students at SSM have employed the five categories of VLSs at a medium level and almost at a close range.

Published
2019
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157. The Impact of Obesity on the Outcomes of Spinal Fusion Surgery: A Systematic Review.

Author

Alzahrani, Wael M., Alqahtani, Aljoharah Abdullah, Alkhalid, Khalid Naif A., Al-Awn, Raghad Mahdi M., Alharbi, Samirah S., Abu Hassan, Abdulelah Mohammed, Alqahtani, Faisal Mohammed M., Althobaiti, Meshari Abdulmalik, Aldehsenah, Moodhy Othman, and Alruwaili, Anwar Khalid

Subjects
SURGICAL blood loss, SPINAL fusion, SPINAL surgery, SURGICAL complications, PATIENT experience, MORBID obesity
Abstract

Objectives: To evaluate the impact of obesity on the outcomes of spinal fusion surgery, an increasingly common procedure for various spinal pathologies. Methods: A thorough search across four databases identified 724 relevant publications. After removing duplicates using Rayyan QCRI and screening for relevance, 391 full-text articles were reviewed, with 7 studies ultimately meeting the criteria for inclusion. Results: We included seven studies with a total of 1454 patients who underwent spinal fusion surgery, and nearly half of them 734 (50.5%) were males. Obesity impacts several outcomes in spinal fusion surgery. While it does not significantly affect operative times or self-reported outcomes, it is associated with longer hospital stays and increased intraoperative blood loss. Elevated BMI is an independent predictor of extended hospitalization and postoperative complications in long-segment fusions. Although obesity generally does not influence pain scores, readmission rates, or reoperation rates, morbidly obese patients experience more perioperative challenges, such as higher costs, longer surgeries, and more frequent complications. Conclusion: Obesity significantly impacts perioperative outcomes in spinal fusion surgery, particularly in terms of blood loss, hospital stay, and postoperative complications. While long-term outcomes such as reoperation and readmission rates are not heavily influenced by BMI, the immediate perioperative period presents notable challenges. Addressing these through preoperative planning, enhanced perioperative management, and postoperative care tailored to obese patients can improve surgical outcomes and recovery. Given the rising prevalence of obesity, these findings are critical for optimizing care for this growing patient population. [ABSTRACT FROM AUTHOR]

Published
2024

172. Healthcare Professionals’ Perception Regarding Patient Rights and Safety in Najran, Saudi Arabia

Author

Alyami, Dawood, primary, Banihameem, Ibraheem S, additional, Al-Mansour, Mohammed H, additional, AlRashah, Ali S, additional, Alsulieman, Manassar Z, additional, Alsaqour, Hussain G, additional, Alsagoor, Mohammed S, additional, Alshahi, Abdullah H, additional, Alyami, Mahdi M, additional, Alyami, Ali R, additional, Alsharif, Faisal H, additional, and Mahmoud, Amro M, additional

Published
2023
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185. Ultra-violet imaging of the night-time earth by EUSO-Balloon towards space-based ultra-high energy cosmic ray observations

Author

Abdellaoui, G., Abe, S., Adams, J.H., Jr., Ahriche, A., Allard, D., Allen, L., Alonso, G., Anchordoqui, L., Anzalone, A., Arai, Y., Asano, K., Attallah, R., Attoui, H., Ave Pernas, M., Bacholle, S., Bakiri, M., Baragatti, P., Barrillon, P., Bartocci, S., Bayer, J., Beldjilali, B., Belenguer, T., Belkhalfa, N., Bellotti, R., Belov, A., Belov, K., Benmessai, K., Bertaina, M., Biermann, P.L., Biktemerova, S., Bisconti, F., Blanc, N., Błȩcki, J., Blin-Bondil, S., Bobik, P., Bogomilov, M., Bozzo, E., Briz, S., Bruno, A., Caballero, K.S., Cafagna, F., Campana, D., Capdevielle, J-N., Capel, F., Caramete, A., Caramete, L., Carlson, P., Caruso, R., Casolino, M., Cassardo, C., Castellina, A., Catalano, C., Catalano, O., Cellino, A., Chikawa, M., Chiritoi, G., Christl, M.J., Connaughton, V., Conti, L., Cordero, G., Cotto, G., Crawford, H.J., Cremonini, R., Csorna, S., Cummings, A., Dagoret-Campagne, S., de Castro, A.J., De Donato, C., de la Taille, C., De Santis, C., del Peral, L., Di Martino, M., Diaz Damian, A., Djemil, T., Dutan, I., Ebersoldt, A., Ebisuzaki, T., Engel, R., Eser, J., Fenu, F., Fernández-González, S., Ferrarese, S., Flamini, M., Fornaro, C., Fouka, M., Franceschi, A., Franchini, S., Fuglesang, C., Fujii, T., Fujimoto, J., Fukushima, M., Galeotti, P., García-Ortega, E., Garipov, G., Gascón, E., Genci, J., Giraudo, G., González Alvarado, C., Gorodetzky, P., Greg, R., Guarino, F., Guzmán, A., Hachisu, Y., Haiduc, M., Harlov, B., Haungs, A., Hernández Carretero, J., Hidber Cruz, W., Ikeda, D., Inoue, N., Inoue, S., Isgrò, F., Itow, Y., Jammer, T., Jeong, S., Joven, E., Judd, E.G., Jung, A., Jochum, J., Kajino, F., Kajino, T., Kalli, S., Kaneko, I., Karadzhov, Y., Karczmarczyk, J., Katahira, K., Kawai, K., Kawasaki, Y., Kedadra, A., Khales, H., Khrenov, B.A., Kim, Jeong-Sook, Kim, Soon-Wook, Kleifges, M., Klimov, P.A., Kolev, D., Krantz, H., Kreykenbohm, I., Krizmanic, J.F., Kudela, K., Kurihara, Y., Kusenko, A., Kuznetsov, E., La Barbera, A., Lachaud, C., Lahmar, H., Lakhdari, F., Larsson, O., Lee, J., Licandro, J., López Campano, L., López, F., Maccarone, M.C., Mackovjak, S., Mahdi, M., Maravilla, D., Marcelli, L., Marcos, J.L., Marini, A., Marszał, W., Martens, K., Martín, Y., Martinez, O., Martucci, M., Masciantonio, G., Mase, K., Mastafa, M., Matev, R., Matthews, J.N., Mebarki, N., Medina-Tanco, G., Mendoza, M.A., Menshikov, A., Merino, A., Meseguer, J., Meyer, S.S., Mimouni, J., Miyamoto, H., Mizumoto, Y., Monaco, A., Morales de los Ríos, J.A., Moretto, C., Nagataki, S., Naitamor, S., Napolitano, T., Nava, R., Neronov, A., Nomoto, K., Nonaka, T., Ogawa, T., Ogio, S., Ohmori, H., Olinto, A.V., Orleański, P., Osteria, G., Pagliaro, A., Painter, W., Panasyuk, M.I., Panico, B., Parizot, E., Park, I.H., Pastircak, B., Patzak, T., Paul, T., Pérez-Grande, I., Perfetto, F., Peter, T., Picozza, P., Pindado, S., Piotrowski, L.W., Piraino, S., Placidi, L., Plebaniak, Z., Pliego, S., Pollini, A., Polonsky, Z., Popescu, E.M., Prat, P., Prévôt, G., Prieto, H., Puehlhofer, G., Putis, M., Rabanal, J., Radu, A.A., Reyes, M., Rezazadeh, M., Ricci, M., Rodríguez Frías, M.D., Ronga, F., Roudil, G., Rusinov, I., Rybczyński, M., Sabau, M.D., Sáez Cano, G., Sagawa, H., Sahnoune, Z., Saito, A., Sakaki, N., Salazar, H., Sanchez Balanzar, J.C., Sánchez, J.L., Santangelo, A., Sanz-Andrés, A., Sanz Palomino, M., Saprykin, O., Sarazin, F., Sato, M., Schanz, T., Schieler, H., Scotti, V., Selmane, S., Semikoz, D., Serra, M., Sharakin, S., Shimizu, H.M., Shinozaki, K., Shirahama, T., Spataro, B., Stan, I., Sugiyama, T., Supanitsky, D., Suzuki, M., Szabelska, B., Szabelski, J., Tajima, N., Tajima, T., Takahashi, Y., Takami, H., Takeda, M., Takizawa, Y., Talai, M.C., Tenzer, C., Thomas, S.B., Tibolla, O., Tkachev, L., Tokuno, H., Tomida, T., Tone, N., Toscano, S., Traïche, M., Tsenov, R., Tsunesada, Y., Tsuno, K., Tubbs, J., Turriziani, S., Uchihori, Y., Vaduvescu, O., Valdés-Galicia, J.F., Vallania, P., Vankova, G., Vigorito, C., Villaseñor, L., Vlcek, B., von Ballmoos, P., Vrabel, M., Wada, S., Watanabe, J., Watts, J., Jr., Weber, M., Weigand Muñoz, R., Weindl, A., Wiencke, L., Wille, M., Wilms, J., Włodarczyk, Z., Yamamoto, T., Yang, J., Yano, H., Yashin, I.V., Yonetoku, D., Yoshida, S., Young, R., Zgura, I.S., Zotov, M.Yu., and Zuccaro Marchi, A.

Published
2019
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192. Investigating the Corrosion Inhibition Performance of Methyl 3H-2,3,5-triazole-1-formate for Mild Steel in Hydrochloric Acid Solution: Experimental and Theoretical Insights.

Author

Resen, Ali M., Jasim, Ayad N., Qasim, Heba S., Hanoon, Mahdi M., Al-Amiery, Ahmed A., Al-Azzawi, Waleed Khalid, Mustafa, Ali M., and Sayyid, Firas F.

Subjects
MILD steel, CORROSION & anti-corrosives, HYDROCHLORIC acid, DURABILITY, DENSITY functional theory
Abstract

Corrosion presents a formidable challenge to the durability of metallic materials, especially in aggressive environments. This study delves into the corrosion inhibition capabilities of Methyl 3H-2,3,5-triazole-1-formate when applied to mild steel immersed in a 1 M HCl solution. Weight loss techniques meticulously scrutinize the inhibitor's efficacy across concentrations (0.1, 0.2, 0.3, 0.4, 0.5, and 1 mM). Immersion durations (1, 5, 10, 24, and 48 hours), all conducted at a constant temperature of 303 K. Furthermore, we explore the influence of temperature fluctuations (ranging from 303 to 333 K) on varying inhibitor concentrations (0.1-1 mM) through a 5-hour immersion period. To delve deeper into the molecular interactions underpinning the inhibitor's effects, we employ Density Functional Theory (DFT) calculations, harnessing the Gaussian 09 software package. Leveraging the B3LYP method, which fuses exchange and correlation functionals alongside a 6-31G++(d,p) basis set, our investigation yields critical insights. Complementary to this analysis, we determine pivotal molecular descriptors, encompassing electronegativity (Χ), hardness (η), softness (σ), and transferred electrons fractional number (ΔN). Our experimental findings underscore the inhibitor's prowess, showcasing an impressive inhibition efficiency of 93.8 % at the optimized concentration of 5 mM and an immersion duration of 5 hours at 303 K. Also, we discern that the adsorption behavior of the inhibitor on the mild steel surface aligns with the Langmuir adsorption isotherm, shedding light on its interaction mechanisms. These comprehensive findings hold profound implications for advancing corrosion protection strategies and optimizing inhibitor applications across diverse industrial settings. [ABSTRACT FROM AUTHOR]

Published
2024
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194. Synthesis and Characterization of ZnS:Cu Thin Films as Gas Sensor Application.

Author

Buraihi, Arkan K., Abdalameer, Nisreen Kh., Ahialy, Nibal F. F., and Mutter, Mahdi M.

Subjects
THIN films, GAS detectors, ZINC sulfide, ATOMIC force microscopy, COPPER, ZINC oxide films, SULFURIC acid, ZINC oxide thin films
Abstract

For use in gas sensor packages, zinc sulfide (ZnS) thin films have been created utilizing the sol-gel dipping deposition process with copper (Cu) doping. Nitrogen dioxide (NO2) and hydrogen sulfate (H2S) are the measurement's goal gases. The probability of Cu doping was 1, 3 and 5 wt%. For morphological, structural, and microstructural characterization, Atomic Force Microscopy (AFM), X-Ray Diffraction (XRD), and UV-visible measurements were used to determine optical properties. The presence of a hexagonal phase was shown by XRD patterns. Due to the more microstrain that brought about copper incorporation, with growing copper inclusion in ZnS thin films, there was a constant decline in particle length. The size variety of the produced hexagonal ZnS crystals turned into 9-17 nm, with a median length of approximately 12 nm. The band hole of the films fell from 3.2 eV for ZnS to 2.8 eV for 5% Cu-doped ZnS film, which could be because copper inclusion ended in an extra organized hexagonal shape. According to the outcomes of sensing homes, ZnS: 3%Cu film for NO2 gas at 150 °C and ZnS: 5%Cu for H2S gas at 250 °C had the best sensitivity. [ABSTRACT FROM AUTHOR]

Published
2024
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195. Impact of Gap-Graded Soil Geometrical Characteristics on Soil Response to Suffusion.

Author

Dong, Chen and Disfani, Mahdi M.

Subjects
SOIL structure, SOIL mechanics, SHEARING force, SOIL erosion, PARTICLES
Abstract

The phenomenon of fine particle migration through the voids of the granule skeleton under the seepage force is called suffusion. Relative density, original fine particle content, and gap ratio are thought to play vital roles in the suffusion process. This paper investigates the effect of geometrical characteristics (i.e., original fine particle content, gap ratio, and relative density) on soil structure and mechanical performance (i.e., small strain shear modulus) using the bender element method technique. The small strain shear modulus (G0) is used as a mechanical parameter to evaluate the shear stress transmission of the soil structure along with the erosion process. The comparison between erosion percentage and vertical strain change suggests the alteration in soil fabric after soil erosion. The G0 monitoring results show that packings with a higher original fine particle content have a lower G0 value, whereas the gap ratio and relative density present a positive relationship with G0. [ABSTRACT FROM AUTHOR]

Published
2024
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196. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, primary, Wang, Qin, additional, Bayat, Allan, additional, Battig, Mark R., additional, Zhou, Yijing, additional, Bosch, Daniëlle G.M., additional, van Haaften, Gijs, additional, Granger, Leslie, additional, Petersen, Andrea K., additional, Pérez-Jurado, Luis A., additional, Aznar-Laín, Gemma, additional, Aneja, Anushree, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Schwarz, Martin, additional, Kremlíková Pourová, Radka, additional, Sedlacek, Zdenek, additional, Keena, Beth A., additional, March, Michael E., additional, Hou, Cuiping, additional, O'Connor, Nora, additional, Bhoj, Elizabeth J., additional, Harr, Margaret H., additional, Lemire, Gabrielle, additional, Boycott, Kym M., additional, Towne, Meghan C., additional, Li, Megan, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Parker, Michael J., additional, Faghfoury, Hanna, additional, Parsley, Lea Kristin, additional, Agolini, Emanuele, additional, Dentici, Maria Lisa, additional, Novelli, Antonio, additional, Wright, Meredith S., additional, Palmquist, Rachel, additional, Lai, Khanh, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Iacomino, Michele, additional, Zara, Federico, additional, Cooper, Annina, additional, Maarup, Timothy J., additional, Byler, Melissa, additional, Lebel, Robert Roger, additional, Balci, Tugce B., additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Douglas, Jessica, additional, Nowak, Catherine B., additional, Afenjar, Alexandra, additional, Hoyer, Juliane, additional, Keren, Boris, additional, Maas, Saskia M., additional, Motazacker, Mahdi M., additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, McCormick, Elizabeth M., additional, Falk, Marni, additional, Ruggiero, Sarah M., additional, Helbig, Ingo, additional, Møller, Rikke S., additional, Tessarollo, Lino, additional, Tomassoni-Ardori, Francesco, additional, Palko, Mary Ellen, additional, Hsieh, Tzung-Chien, additional, Krawitz, Peter M., additional, Ganapathi, Mythily, additional, Gelb, Bruce D., additional, Jobanputra, Vaidehi, additional, Wilson, Ashley, additional, Greally, John, additional, Jacquemont, Sébastien, additional, Jizi, Khadijé, additional, Ange-Line, Bruel, additional, Quelin, Chloé, additional, Misra, Vinod K., additional, Chick, Erika, additional, Romano, Corrado, additional, Greco, Donatella, additional, Arena, Alessia, additional, Morleo, Manuela, additional, Nigro, Vincenzo, additional, Seyama, Rie, additional, Uchiyama, Yuri, additional, Matsumoto, Naomichi, additional, Taira, Ryoji, additional, Tashiro, Katsuya, additional, Sakai, Yasunari, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, Wagner, Michael, additional, Kutsche, Barbara, additional, Hurst, Anna C.E., additional, Thompson, Michelle L., additional, Schmidt, Ryan J., additional, Randolph, Linda M., additional, Spillmann, Rebecca C., additional, Shashi, Vandana, additional, Higginbotham, Edward J., additional, Cordeiro, Dawn, additional, Carnevale, Amanda, additional, Costain, Gregory, additional, Khan, Tayyaba, additional, Funalot, Benoît, additional, Tran Mau-Them, Frederic, additional, Fernandez Garcia Moya, Luis, additional, García-Miñaúr, Sixto, additional, Osmond, Matthew, additional, Chad, Lauren, additional, Quercia, Nada, additional, Carrasco, Diana, additional, Li, Chumei, additional, Sanchez-Valle, Amarilis, additional, Kelley, Meghan, additional, Nizon, Mathilde, additional, Jensson, Brynjar O., additional, Sulem, Patrick, additional, Stefansson, Kari, additional, Gorokhova, Svetlana, additional, Busa, Tiffany, additional, Rio, Marlène, additional, Hadj Abdallah, Hamza, additional, Lesieur-Sebellin, Marion, additional, Amiel, Jeanne, additional, Pingault, Véronique, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Philippe, Christophe, additional, Fatus-Fauconnier, Clemence, additional, Friend, Kathryn, additional, Halligan, Rebecca K., additional, Biswas, Sunita, additional, Rosser, Jane M.R., additional, Shoubridge, Cheryl, additional, Corbett, Mark A., additional, Barnett, Christopher, additional, Gecz, Jozef, additional, Leppig, Kathleen A., additional, Slavotinek, Anne, additional, Marcelis, Carlo, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Slegtenhorst, Marjon A., additional, Brooks, Alice S., additional, Cogne, Benjamin, additional, Rambaud, Thomas, additional, Tümer, Zeynep, additional, Zackai, Elaine H., additional, Akizu, Naiara, additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional

Published
2023
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198. Opportunities in Closed-Loop Molecular Recycling of End-of-Life Polyurethane

Author

Baoyuan Liu, Zach Westman, Kelsey Richardson, Dingyuan Lim, Alan L. Stottlemyer, Thomas Farmer, Paul Gillis, Vojtech Vlcek, Phillip Christopher, and Mahdi M. Abu-Omar

Subjects
Renewable Energy, Sustainability and the Environment, General Chemical Engineering, Environmental Chemistry, General Chemistry
Published
2023

199. The Association Between genetic variations of KCNj11 gene and type 2 diabetes mellitus in a sample of Iraqi population

Author

Bushra A. Al Hussieny and Mahdi M. R. Alsahlawi

Abstract

Background: Type 2 diabetes mellitus is a polygenic disorder that develops as a result of a complex interaction between multiple genes and environmental factors. KCNJ11 gene encodes a Kir6.2 protein which forms the inner section of the potassium channels in pancreatic beta cells. Methods: This case-control study involved 300 T2DM patients and 300 healthy controls. The KCNJ11 rs5215 and rs5210 polymorphism was genotyped by Restriction Fragment Length Polymorphism (RFLP). Results : Hardy Weinberg equation statistics of KCNJ11 rs5210 (A/G) SNP genotypes among patients, control subjects highly significant (p < 0.001). Comparison of KCNJ11 rs5210 (A/G) SNP genotypes the codominance model, the additive model The recessive model and has shown no significant variation between control and patient groups (p = 0.564), (p = 0.806)and (p = 0.284) respectively. confirmed the lack of significant association (p = 0.589). Analysis of alleles has shown no significant association (p = 0.432). Comparison of BMI and HDL is significant to KCNJ11 rs5210 (A/G) SNP genotypes based on codominance model and other biochemical is not . Hardy Weinberg equation statistics of KCNJ11 rs5215 (C:I /T:V) SNP genotypes among patients, control highly significant (p < 0.001). The codominance model has shown no significant difference (p =0.835). The dominant model, the recessive model and the additive model has shown no significant difference (p =0.581),(p =0.606) and (p =0.483). Allele analysis has shown no significant difference (p =0.463). Comparison of BMI and cholesterol is no significant to KCNJ11 rs5215 (C/T) SNP genotypes based on codominance model and other biochemical is significant. The association between risk of disease and haplotypes resulting from KCNJ11 rs5210 (A/G) versus rs5115 (C:I /T:V) interaction is H 1 , H2 haplotypes was associated with highly significant risk of disease (p = 0.004) OR of 1.64, (p < 0.001) with an OR of 0.35. H 3 haplotypes was associated with significant protection against the disease (p = 0.024) with an approximate OR of 0.69. The presence of H 4 haplotypes was associated with highly significant risk of the disease (p < 0.001) with an OR of 2.52. Conclusions: This study showed that rs5215and rs5210 polymorphism of the KCNJ11 gene is an important risk factor for type 2 diabetes mellitus in a sample of the Iraqi population. Aimed of study :This study was aimed to detect the relationship between the rs5215and rs5210 polymorphism of the KCNJ11 associated with T2DM in Iraqi population ,what is the impact of haplotype analysis on the risk of T2DM as well as the glycemic indices.

Published
2023

200. DNA-templated poly(N-substituted pyrrole)bipyridinium nanowires

Author

Almaky, Mahdi M. Almahdi

Subjects
543
Abstract

Conductive polymers nanowires have been prepared using DNA-templating methods from monomer units designed in modular form. The monomer units comprise a polymerisable, pyrrolyl group, and a flexible alkyl linker attached to bipyridine groups in order to provide a metal-binding functionality within the polymers. The possibility for these DNA/polymer nanowires to act as templates for deposition of metal with enhanced electrical conductivity was also explored. Pyrrole with a flexible alkyl linker was combined with; pyridine (mono-I) as a control experiment, 2,2` bipyridyl (mono-II) and 4,4` bipyridyl (mono-III) with a metal ion binding site (nitrogen atom). This was in order to provide the metal-binding functionality for metal deposition to improve the conductivity as well as the morphology of the aimed hybrid templated nanowires. This series of pyrrole-pyridine derivatives were characterised using a range of techniques such as Proton Nuclear Magnetic Resonance (1H NMR) spectroscopy, Fourier Transform Infrared (FTIR) spectroscopy, Mass Spectroscopy (MS) and Elemental Analysis. Prior to the nanowires fabrication, pyrrole, as a control, and the prepared monomer units (mono-I, mono-II and mono-III) were chemically polymerised in a bulk scale using FeCl3 as an oxidant, then spectroscopic data and electrical conductivity of the resulting polymers were measured. A significant decrease in conductivity of poly-I, poly-II and poly-III compared to PPy, but was especially observed for the bipyridinium derivatives. This was suggested to be due to the steric hindrance of the alkyl side chain in the polymer backbone, in addition, the involvement of the non-quaternised pyridyl nitrogen in poly-II and poly-III by the nucleophilic attack on pyrrolyl groups in the polymerisation reaction. DNA-templated poly(N-substituted pyrrole)bipyridinium nanowires were synthesised at room temperature using the chemical oxidation method. The resulting CPs/DNA hybrids have been characterised using electronic and vibrational spectroscopic methods especially Ultraviolet-Visible (UV-Vis) spectroscopy and FTIR spectroscpy. The nanowires morphology was characterised using Atomic Force Microscopy (AFM). The electrical properties of the prepared nanowires were characterised using Electrostatic Force Microscopy (EFM), and measured using conductive AFM (c-AFM) and two iii terminal I/V technique, where the temperature dependence of the conductivity was probed. The conductivities of the prepared CPs/DNA nanowires are generally lower than PPy/DNA nanowires showing the large effect on N-alkylation in decreasing the conductivity of the polymer, but these are higher than the conductivity of their corresponding bulk films. This enhancement in conductivity could be attributed to the ordering of the polymer chains on DNA during the templating process. Finally, the prepared CPs/DNA nanowires were used as templates for the growth of copper nanowires at room temperature using aqueous solution of Cu(NO3)2 as a source of Cu2+ and ascorbic acid as reducing agent. AFM images showed that these nanowires were uniform and continuous compared to copper nanowires prepared using the templating method directly onto DNA. Electrical characterization of the nanowires by c-AFM revealed slight improvement in conductivity of these nanowires (Cu-CPs/DNA) compared to CPs/DNA nanowires before metallisation. Using similar preparation method, Poly-II/DNA nanostructures were also used as templates to direct the formation of Pd nanowires. An aqueous solution of PdCl2 was used as a source of Pd2+ ions and NaBH4 solution was used as reducing agent. AFM studies show that the resulting Pd-poly-II/DNA nanowires exhibit continuous and smooth morphology. Electrostatic Force Microscopy showed that these nanowires are electrically conductive.

Published
2013

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