Resultados de búsqueda - Tripathi, Swarnendu
- Mostrando 1 - 14 Resultados de 14
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Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations por Tripathi, Swarnendu, Dsouza, Nikita R, Urrutia, Raul, Zimmermann, Michael T
Publicado 2020Texto -
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Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics por Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Leverence, Elise, Urrutia, Raul, Zimmermann, Michael T.
Publicado 2021Texto -
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Computational modeling reveals key molecular properties and dynamic behavior of disruptor of telomeric silencing 1‐like (DOT1L) and partnering complexes involved in leukemogenesis... por Stodola, Timothy J., Chi, Young‐In, De Assuncao, Thiago M., Leverence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Publicado 2021Texto -
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Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction por Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Levrence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Publicado 2021Texto -
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Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction por Chi, Young-In, Stodola, Timothy J., De Assuncao, Thiago M., Levrence, Elise N., Tripathi, Swarnendu, Dsouza, Nikita R., Mathison, Angela J., Basel, Donald G., Volkman, Brian F., Smith, Brian C., Lomberk, Gwen, Zimmermann, Michael T., Urrutia, Raul
Publicado 2021Texto -
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Novel KLHL26 variant associated with a familial case of Ebstein’s anomaly and left ventricular noncompaction por Samudrala, Sai Suma K., North, Lauren M., Stamm, Karl D., Earing, Michael G., Frommelt, Michele A., Willes, Richard, Tripathi, Swarnendu, Dsouza, Nikita R., Zimmermann, Michael T., Mahnke, Donna K., Liang, Huan Ling, Lund, Michael, Lin, Chien‐Wei, Geddes, Gabrielle C., Mitchell, Michael E., Tomita‐Mitchell, Aoy
Publicado 2020Texto -
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Phase Separation Mediates NUP98 Fusion Oncoprotein Leukemic Transformation por Chandra, Bappaditya, Michmerhuizen, Nicole L., Shirnekhi, Hazheen K., Tripathi, Swarnendu, Pioso, Brittany J., Baggett, David W., Mitrea, Diana M., Iacobucci, Ilaria, White, Michael R., Chen, Jingjing, Park, Cheon-Gil, Wu, Huiyun, Pounds, Stanley, Medyukhina, Anna, Khairy, Khaled, Gao, Qingsong, Qu, Chunxu, Abdelhamed, Sherif, Gorman, Scott D., Bawa, Simranjot, Maslanka, Carolyn, Kinger, Swati, Dogra, Priyanka, Ferrolino, Mylene C., Di Giacomo, Danika, Mecucci, Cristina, Klco, Jeffery M., Mullighan, Charles G., Kriwacki, Richard W.
Publicado 2022Texto -
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome por Cousin, Margot A., Veale, Emma L., Dsouza, Nikita R., Tripathi, Swarnendu, Holden, Robyn G., Arelin, Maria, Beek, Geoffrey, Bekheirnia, Mir Reza, Beygo, Jasmin, Bhambhani, Vikas, Bialer, Martin, Bigoni, Stefania, Boelman, Cyrus, Carmichael, Jenny, Courtin, Thomas, Cogne, Benjamin, Dabaj, Ivana, Doummar, Diane, Fazilleau, Laura, Ferlini, Alessandra, Gavrilova, Ralitza H., Graham, John M., Haack, Tobias B., Juusola, Jane, Kant, Sarina G., Kayani, Saima, Keren, Boris, Ketteler, Petra, Klöckner, Chiara, Koopmann, Tamara T., Kruisselbrink, Teresa M., Kuechler, Alma, Lambert, Laëtitia, Latypova, Xénia, Lebel, Robert Roger, Leduc, Magalie S., Leonardi, Emanuela, Lewis, Andrea M., Liew, Wendy, Machol, Keren, Mardini, Samir, McWalter, Kirsty, Mignot, Cyril, McLaughlin, Julie, Murgia, Alessandra, Narayanan, Vinodh, Nava, Caroline, Neuser, Sonja, Nizon, Mathilde, Ognibene, Davide, Park, Joohyun, Platzer, Konrad, Poirsier, Céline, Radtke, Maximilian, Ramsey, Keri, Runke, Cassandra K., Guillen Sacoto, Maria J., Scaglia, Fernando, Shinawi, Marwan, Spranger, Stephanie, Tan, Ee Shien, Taylor, John, Trentesaux, Anne-Sophie, Vairo, Filippo, Willaert, Rebecca, Zadeh, Neda, Urrutia, Raul, Babovic-Vuksanovic, Dusica, Zimmermann, Michael T., Mathie, Alistair, Klee, Eric W.
Publicado 2022Texto -
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome por Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Publicado 2021Texto