Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans

por Falardeau, John L, Kennedy, John C, Acierno, James S, Sun, Mei, Stahl, Stefanie, Goldin, Ehud, Slaugenhaupt, Susan A
Publicado 2002

Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV

por Grishchuk, Yulia, Peña, Karina A., Coblentz, Jessica, King, Victoria E., Humphrey, Daniel M., Wang, Shirley L., Kiselyov, Kirill I., Slaugenhaupt, Susan A.
Publicado 2015

Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV

por Mepyans, Molly, Andrzejczuk, Livia, Sosa, Jahree, Smith, Sierra, Herron, Shawn, DeRosa, Samantha, Slaugenhaupt, Susan A., Misko, Albert, Grishchuk, Yulia, Kiselyov, Kirill
Publicado 2020

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

por Donadon, Irving, Pinotti, Mirko, Rajkowska, Katarzyna, Pianigiani, Giulia, Barbon, Elena, Morini, Elisabetta, Motaln, Helena, Rogelj, Boris, Mingozzi, Federico, Slaugenhaupt, Susan A, Pagani, Franco
Publicado 2018

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia

por Chekuri, Anil, Logan, Emily M, Krauson, Aram J, Salani, Monica, Ackerman, Sophie, Kirchner, Emily G, Bolduc, Jessica M, Wang, Xia, Dietrich, Paula, Dragatsis, Ioannis, Vandenberghe, Luk H, Slaugenhaupt, Susan A, Morini, Elisabetta
Publicado 2021

Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research

por Boutin, Natalie T., Mathieu, Kathleen, Hoffnagle, Alison G., Allen, Nicole L., Castro, Victor M., Morash, Megan, O’Rourke, P. Pearl, Hohmann, Elizabeth L., Herring, Neil, Bry, Lynn, Slaugenhaupt, Susan A., Karlson, Elizabeth W., Weiss, Scott T., Smoller, Jordan W.
Publicado 2016

Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV

por Grishchuk, Yulia, Sri, Sarmi, Rudinskiy, Nikita, Ma, Weiyuan, Stember, Katherine G., Cottle, Matthew W., Sapp, Ellen, Difiglia, Marian, Muzikansky, Alona, Betensky, Rebecca A., Wong, Andrew M. S., Bacskai, Brian J., Hyman, Bradley T., Kelleher, Raymond J., Cooper, Jonathan D., Slaugenhaupt, Susan A.
Publicado 2014

Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia

por Morini, Elisabetta, Chekuri, Anil, Logan, Emily M., Bolduc, Jessica M., Kirchner, Emily G., Salani, Monica, Krauson, Aram J., Narasimhan, Jana, Gabbeta, Vijayalakshmi, Grover, Shivani, Dakka, Amal, Mollin, Anna, Jung, Stephen P., Zhao, Xin, Zhang, Nanjing, Zhang, Sophie, Arnold, Michael, Woll, Matthew G., Naryshkin, Nikolai A., Weetall, Marla, Slaugenhaupt, Susan A.
Publicado 2023

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

por Gao, Dadi, Morini, Elisabetta, Salani, Monica, Krauson, Aram J., Chekuri, Anil, Sharma, Neeraj, Ragavendran, Ashok, Erdin, Serkan, Logan, Emily M., Li, Wencheng, Dakka, Amal, Narasimhan, Jana, Zhao, Xin, Naryshkin, Nikolai, Trotta, Christopher R., Effenberger, Kerstin A., Woll, Matthew G., Gabbeta, Vijayalakshmi, Karp, Gary, Yu, Yong, Johnson, Graham, Paquette, William D., Cutting, Garry R., Talkowski, Michael E., Slaugenhaupt, Susan A.
Publicado 2021

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

por Dina, Christian, Bouatia-Naji, Nabila, Tucker, Nathan, Delling, Francesca N., Toomer, Katelynn, Durst, Ronen, Perrocheau, Maelle, Fernandez-Friera, Leticia, Solis, Jorge, Le Tourneau, Thierry, Chen, Ming-Huei, Probst, Vincent, Bosse, Yohan, Pibarot, Philippe, Zelenika, Diana, Lathrop, Mark, Hercberg, Serge, Roussel, Ronan, Benjamin, Emelia J., Bonnet, Fabrice, Su Hao, LO, Dolmatova, Elena, Simonet, Floriane, Lecointe, Simon, Kyndt, Florence, Redon, Richard, Le Marec, Hervé, Froguel, Philippe, Ellinor, Patrick T., Vasan, Ramachandran S., Bruneval, Patrick, Norris, Russell A., Milan, David J., Slaugenhaupt, Susan A., Levine, Robert A., Schott, Jean-Jacques, Hagege, Albert A., Jeunemaitre, Xavier
Publicado 2015

Mutations in DCHS1 Cause Mitral Valve Prolapse

por Durst, Ronen, Sauls, Kimberly, Peal, David S, deVlaming, Annemarieke, Toomer, Katelynn, Leyne, Maire, Salani, Monica, Talkowski, Michael E., Brand, Harrison, Perrocheau, Maëlle, Simpson, Charles, Jett, Christopher, Stone, Matthew R., Charles, Florie, Chiang, Colby, Lynch, Stacey N., Bouatia-Naji, Nabila, Delling, Francesca N., Freed, Lisa A., Tribouilloy, Christophe, Le Tourneau, Thierry, LeMarec, Hervé, Fernandez-Friera, Leticia, Solis, Jorge, Trujillano, Daniel, Ossowski, Stephan, Estivill, Xavier, Dina, Christian, Bruneval, Patrick, Chester, Adrian, Schott, Jean-Jacques, Irvine, Kenneth D., Mao, Yaopan, Wessels, Andy, Motiwala, Tahirali, Puceat, Michel, Tsukasaki, Yoshikazu, Menick, Donald R., Kasiganesan, Harinath, Nie, Xingju, Broome, Ann-Marie, Williams, Katherine, Johnson, Amanda, Markwald, Roger R., Jeunemaitre, Xavier, Hagege, Albert, Levine, Robert A., Milan, David J., Norris, Russell A., Slaugenhaupt, Susan A.
Publicado 2015