Dopamine-dependent, swimming-induced paralysis arises as a consequence of loss of function mutations in the RUNX transcription factor RNT-1
Robinson, Sarah B, Refai, Osama, Hardaway, J Andrew, Sturgeon, Sarah, Popay, Tessa, Bermingham, Daniel P, Freeman, Phyllis, Wright, Jane, Blakely, Randy D
Published in PloS one (13.05.2019)
Published in PloS one (13.05.2019)
Get full text
Journal Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
Get full text
Journal Article
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development
Refai, Osama, Friedman, Andrew, Terry, Lori, Jewett, Tamison, Pearlman, Alexander, Perle, Mary Ann, Ostrer, Harry
Published in American journal of medical genetics. Part A (01.02.2010)
Published in American journal of medical genetics. Part A (01.02.2010)
Get full text
Journal Article
Forward genetic screen of the C. elegans million mutation library reveals essential, cell‐autonomous contributions of BBSome proteins to dopamine signaling
Refai, Osama, Rodriguez, Peter, Gichi, Zayna, Blakely, Randy D.
Published in Journal of neurochemistry (01.09.2024)
Published in Journal of neurochemistry (01.09.2024)
Get full text
Journal Article
Allosteric Modulator KM822 Attenuates Behavioral Actions of Amphetamine in Caenorhabditis elegans through Interactions with the Dopamine Transporter DAT-1
Refai, Osama, Aggarwal, Shaili, Cheng, Mary Hongying, Gichi, Zayna, Salvino, Joseph M, Bahar, Ivet, Blakely, Randy D, Mortensen, Ole V
Published in Molecular pharmacology (01.03.2022)
Published in Molecular pharmacology (01.03.2022)
Get full text
Journal Article
The Atypical MAP Kinase SWIP-13/ERK8 Regulates Dopamine Transporters through a Rho-Dependent Mechanism
Bermingham, Daniel P, Hardaway, J Andrew, Refai, Osama, Marks, Christian R, Snider, Sam L, Sturgeon, Sarah M, Spencer, William C, Colbran, Roger J, Miller, 3rd, David M, Blakely, Randy D
Published in The Journal of neuroscience (20.09.2017)
Published in The Journal of neuroscience (20.09.2017)
Get full text
Journal Article
Extension of the Caenorhabditis elegans Pharyngeal M1 neuron axon is regulated by multiple mechanisms
Refai, Osama, Rohs, Patricia, Mains, Paul E, Gaudet, Jeb
Published in G3 : genes - genomes - genetics (01.11.2013)
Published in G3 : genes - genomes - genetics (01.11.2013)
Get full text
Journal Article
Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016
Weil, Patrick P., Ziegenhals, Thomas, Juranek, Stefan, Gödde, Daniel, Vogel, Silvia, Schuster, Frauke, Dörner, Johannes, Pembaur, Daniel, Störkel, Stefan, Wirth, Stefan, Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Burgard, Peter, Kölker, Stefan, Shrestha, Amit, Ahmadvand, Negah, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Seeliger, Stephan, Hippe, Andreas, Hofmann, Sigrun R., Rauh, Manfred, Metzler, Markus, Bandoła, Joanna, Richter, Cornelia, Ryser, Martin, Ashton, Michelle P., von Bonin, Malte, Hedrich, Christian M., Berner, Reinhard, Brenner, Sebastian, Stachel, Daniel, Kiritsi, Dimitra, Söder, Stephan, Metzler, Markus, Bohne, F., Eggermann, T., Zechner, U., Prawitt, D., Pech, Martin, Weckmann, Markus, Franke, Andre, Happle, Christine, Hansen, Gesine, Fuchs, Oliver, von Mutius, Erika, Oliver, Brian G., Paret, Claudia, Keller, Bettina, Lehmann, Nadine, Wingerter, Arthur, Aslihan, Gerhold-Ay, Wagner, Wolfgang, Seidmann, Larissa, Faber, Jörg, Schreiner, Felix, Ackermann, Merle, Racz, Ildiko, Lutz, Beat, Dötsch, Jörg, Zimmer, Andreas, Fischer, Hendrik S., Bührer, Christoph, Czernik, Christoph, Hofmann, Sigrun R., Hagenbuchner, Judith, Obexer, Petra, Ausserlechner, Michael J., Loges, Niki T., Frommer, Adrien Tobias, Öner-Sieben, Soner, Gimpfl, Martina, Beckers, Johannes, Roscher, Adelbert, Wolf, Eckhard, Ensenauer, Regina, Hasselblatt, Martin, Siebert, Reiner, Kordes, Uwe, Kool, Marcel, Hardy, Holly, Refai, Osama, Zimmerman, Holly H., Baple, Emma L., Standl, M., Thiering, E., Koletzko, B., Picard, Daniel, Frühwald, Michael C., Reifenberger, Guido, Hasselblatt, Martin, Wabitsch, M., Westhoff, Mike-Andrew, Langhans, Julia, Schneele, Lukas, Trenkler, Nancy, Debatin, Klaus-Michael
Published in Molecular and cellular pediatrics (10.05.2017)
Published in Molecular and cellular pediatrics (10.05.2017)
Get full text
Journal Article
De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development
Refai, Osama, Friedman, Andrew, Terry, Lori, Jewett, Tamison, Pearlman, Alexander, Perle, Mary Ann, Ostrer, Harry
Published in American Journal of Medical Genetics Part A (01.02.2010)
Published in American Journal of Medical Genetics Part A (01.02.2010)
Get full text
Report