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381por Pereira, Gabriel Rodrigues Coutinho, Vieira, Bárbara de Azevedo Abrahim, De Mesquita, Joelma Freire“…Twelve algorithms were used to predict the functional and stability effects of these mutations. ConSurf was used to estimate the evolutionary conservation of SOD1 amino-acids. …”
Publicado 2021
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382por Inak, Gizem, Rybak-Wolf, Agnieszka, Lisowski, Pawel, Pentimalli, Tancredi M., Jüttner, René, Glažar, Petar, Uppal, Karan, Bottani, Emanuela, Brunetti, Dario, Secker, Christopher, Zink, Annika, Meierhofer, David, Henke, Marie-Thérèse, Dey, Monishita, Ciptasari, Ummi, Mlody, Barbara, Hahn, Tobias, Berruezo-Llacuna, Maria, Karaiskos, Nikos, Di Virgilio, Michela, Mayr, Johannes A., Wortmann, Saskia B., Priller, Josef, Gotthardt, Michael, Jones, Dean P., Mayatepek, Ertan, Stenzel, Werner, Diecke, Sebastian, Kühn, Ralf, Wanker, Erich E., Rajewsky, Nikolaus, Schuelke, Markus, Prigione, Alessandro“…LS NPCs carrying mutations in the complex I gene NDUFS4 recapitulated morphogenesis defects. SURF1 gene augmentation and PGC1A induction via bezafibrate treatment supported the metabolic programming of LS NPCs, leading to restored neuronal morphogenesis. …”
Publicado 2021
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383por Francis, Tessa B., Sullaway, Genoa H., Feist, Blake E., Shelton, Andrew O., Chui, Emily, Daley, Caroline, Frick, Kinsey E., Tolimieri, Nick, Williams, Gregory D., Samhouri, Jameal F.“…Pacific herring were more abundant at reference shorelines; the shoreline effect for surf smelt varied by survey site. Shoreline restoration was not an important predictor of salmonid abundance; the best models for Chinook and chum salmon included predictors for survey site and eelgrass, respectively. …”
Publicado 2022
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384“…By allowing us to discover and access information on a global scale, they have created entirely new businesses and brought new meaning to the term surf. In addition, however, we want processing, and increasingly, we want collaborative processing within distributed teams. …”
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385por Araújo, Glauber R. de S., Viana, Nathan B., Gómez, Fran, Pontes, Bruno, Frases, SusanaEnlace del recurso
Publicado 2019
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386por Czerwonka, Grzegorz, Durlik-Popińska, Katarzyna, Drabik, Marcin, Szczerba, Martyna, Kwiatkowska, Maria, Kaca, WiesławEnlace del recurso
Publicado 2022
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389por Park, JenniferEnlace del recurso
Publicado 2020
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390por Novack, Gary D.Enlace del recurso
Publicado 2021
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391por Almaramhy, Hamdi Hameed, Abdul Samad, Firoz, Al-Harbi, Ghadeer, Zaytuni, Dimah, Imam, Syed Nazar, Masoodi, Tariq, Shamsi, Monis Bilal“…The in silico analysis by all six in silico tools (SIFT, PolyPhen-2, MutationAssessor, MutationTaster, FATHMM, and ConSurf) predicted the variant to be pathogenic/deleterious. …”
Publicado 2023
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392por Arnold, Benjamin F., Schiff, Kenneth C., Ercumen, Ayse, Benjamin-Chung, Jade, Steele, Joshua A., Griffith, John F., Steinberg, Steven J., Smith, Paul, McGee, Charles D., Wilson, Richard, Nelsen, Chad, Weisberg, Stephen B., Colford, John M.“…We enrolled 654 surfers in San Diego, California, and followed them longitudinally during the 2013–2014 and 2014–2015 winters (33,377 days of observation, 10,081 surf sessions). We measured daily surf activities and illness symptoms (gastrointestinal illness, sinus infections, ear infections, infected wounds). …”
Publicado 2017
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393por Iglesias, Katia, Sporkert, Frank, Daeppen, Jean-Bernard, Gmel, Gerhard, Baggio, Stephanie“…A non-response analysis will be run using the previous waves of the C-SURF study using logistic regressions. ETHICS AND DISSEMINATION: The study protocol has been approved by the Human Research Ethics Committee of the Canton of Vaud, Switzerland (no. 2017–00776). …”
Publicado 2018
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394por Zhao, Min, Graham, Ian, Cooney, Marie Therese, Grobbee, Diederick E, Vaartjes, Ilonca, Klipstein-Grobusch, Kerstin“…BACKGROUND: The SUrvey of Risk Factors (SURF) indicated poor control of risk factors in subjects with established coronary heart disease (CHD). …”
Publicado 2019
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395“…Further, migratory tendencies (east vs. west) of female surf and white‐winged scoters in central Canada are known to vary across years, providing additional opportunities for intracontinental dispersal and a mechanism for the maintenance of genomic connectivity across North America. …”
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396por Akter, Hosneara, Hossain, Mohammad Shahnoor, Dity, Nushrat Jahan, Rahaman, Md. Atikur, Furkan Uddin, K. M., Nassir, Nasna, Begum, Ghausia, Hameid, Reem Abdel, Islam, Muhammad Sougatul, Tusty, Tahrima Arman, Basiruzzaman, Mohammad, Sarkar, Shaoli, Islam, Mazharul, Jahan, Sharmin, Lim, Elaine T., Woodbury-Smith, Marc, Stavropoulos, Dimitri James, O’Rielly, Darren D., Berdeiv, Bakhrom K., Nurun Nabi, A. H. M., Ahsan, Mohammed Nazmul, Scherer, Stephen W., Uddin, Mohammed“…Our analysis pipeline detected three homozygous mutations, including a novel c. 863 G > C (p.Pro288Arg) variant in DHH, and two compound heterozygous variants, including two novel variants: c.2972dupT (p.Met991Ilefs*) in GNPTAB and c.229 G > C (p.Gly77Arg) in SURF1. All mutations were validated by Sanger sequencing. …”
Publicado 2021
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397por Ardissone, Anna, Bruno, Claudio, Diodato, Daria, Donati, Alice, Ghezzi, Daniele, Lamantea, Eleonora, Lamperti, Costanza, Mancuso, Michelangelo, Martinelli, Diego, Primiano, Guido, Procopio, Elena, Rubegni, Anna, Santorelli, Filippo, Schiaffino, Maria Cristina, Servidei, Serenella, Tubili, Flavia, Bertini, Enrico, Moroni, Isabella“…Our data showed SURF1 as the genotype with the most unfavorable prognosis, differently from other cohorts reported to date. …”
Publicado 2021
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