Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP von Chen, Yei-Tsung, Hims, Matthew M., Shetty, Ranjit S., Mull, James, Liu, Lijuan, Leyne, Maire, Slaugenhaupt, Susan A.

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Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia von HIMS, Matthew M, CHERIF IBRAHIM, El, SLAUGENHAUPT, Susan A, LEYNE, Maire, MULL, James, LIJUAN LIU, LAZARO, Conxi, SHETTY, Ranjit S, GILL, Sandra, GUSELLA, James F, REED, Robin

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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect von Hims, Matthew M., Shetty, Ranjit S., Pickel, James, Mull, James, Leyne, Maire, Liu, Lijuan, Gusella, James F., Slaugenhaupt, Susan A.

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Caring for Dependents Travel Awards to Promote Career Advancement of Early Career Faculty with Caregiver Responsibilities von Bredella, Miriam A., Olson, Lauren, Patel, Karan A., Levy, Anne S., Leyne, Maire, Sylvia, Louisa G.

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Mutations in DCHS1 cause mitral valve prolapse von 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.

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Identification of the first non-Jewish mutation in familial Dysautonomia von Leyne, Maire, Mull, James, Gill, Sandra P., Cuajungco, Math P., Oddoux, Carole, Blumenfeld, Anat, Maayan, Channa, Gusella, James F., Axelrod, Felicia B., Slaugenhaupt, Susan A.

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Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia von Axelrod, Felicia B, Liebes, Leonard, Gold-von Simson, Gabrielle, Mendoza, Sandra, Mull, James, Leyne, Maire, Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio, Slaugenhaupt, Susan A

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New locus for autosomal dominant mitral valve prolapse on chromosome 13 : Clinical insights from genetic studies von NESTA, Francesca, LEYNE, Maire, YOSEFY, Chaim, SIMPSON, Charles, DAI, Daisy, MARSHALL, Jane E, HUNG, Judy, SLAUGENHAUPT, Susan A, LEVINE, Robert A

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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia von Slaugenhaupt, Susan A., Blumenfeld, Anat, Gill, Sandra P., Leyne, Maire, Mull, James, Cuajungco, Math P., Liebert, Christopher B., Chadwick, Brian, Idelson, Maria, Reznik, Luba, Robbins, Christiane M., Makalowska, Izabela, Brownstein, Michael J., Krappmann, Daniel, Scheidereit, Claus, Maayan, Channa, Axelrod, Felicia B., Gusella, James F.

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Specific correction of a splice defect in brain by nutritional supplementation von Shetty, Ranjit S., Gallagher, Cary S., Chen, Yei-Tsung, Hims, Matthew M., Mull, James, Leyne, Maire, Pickel, James, Kwok, David, Slaugenhaupt, Susan A.

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Rescue of a human mRNA splicing defect by the plant cytokinin kinetin von Slaugenhaupt, Susan A., Mull, James, Leyne, Maire, Cuajungco, Math P., Gill, Sandra P., Hims, Matthew M., Quintero, Fabiola, Axelrod, Felicia B., Gusella, James F.

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Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia von Cuajungco, Math P., Leyne, Maire, Mull, James, Gill, Sandra P., Lu, Weining, Zagzag, David, Axelrod, Felicia B., Maayan, Channa, Gusella, James F., Slaugenhaupt, Susan A.

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A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4 von Freed, Lisa A., Acierno, James S., Dai, Daisy, Leyne, Maire, Marshall, Jane E., Nesta, Francesca, Levine, Robert A., Slaugenhaupt, Susan A.

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Mutations in DCHS1 Cause Mitral Valve Prolapse von 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

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Abstract 18977: Non-Syndromic Mitral Valve Prolapse From Gene Mutations to Modifiable Mechanisms von Norris, Russell, Sauls, Kimberly, Durst, Ronen, Peal, David, Toomer, Katelynn, Leyne, Maire, Talkowski, Michael E, Brand, Harrison, Perrocheau, Maelle, Lynch, Stacey N, Bouaia-Naji, Nabila, Delling, Francesca N, Freed, Lisa A, Le Tourneau, Thierry, LeMarec, Herve, Estivill, Xavier, Fernandez-Friera, Leticia, Dina, Christian, Solis, Jorge, Trujillano, Daniel, Irvine, Kenneth D, Mao, Yaopan, Ossowski, Stephan, Wessels, Any, Menick, Donald, Kasiganesan, Harinath, Bromme, Ann-Marie, Williams, Katherine, Schott, Jean-Jacques, Hagege, Albert A, Jeunemaitre, Xavier, Markwald, Roger R, Milan, David J, Levine, Robert A, Slaugenhaupt, Susan

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Kinetin in Familial Dysautonomia Carriers: Implications for a New Therapeutic Strategy Targeting mRNA Splicing von Gold-von Simson, Gabrielle, Goldberg, Judith D, Rolnitzky, Linda M, Mull, James, Leyne, Maire, Voustianiouk, Andrei, Slaugenhaupt, Susan A, Axelrod, Felicia B

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Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia von Slaugenhaupt, Susan A., Blumenfeld, Anat, Gill, Sandra P., Leyne, Maire, Mull, James, Cuajungco, Math P., Liebert, Christopher B., Chadwick, Brian, Idelson, Maria, Reznik, Luba, Robbins, Christiane M., Makalowska, Izabela, Brownstein, Michael J., Krappmann, Daniel, Scheidereit, Claus, Maayan, Channa, Axelrod, Felicia B., Gusella, James F.

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Mitral Valve Prolapse is Associated with Dysregulated β-catenin Activities von Guo, Lilong, Toomer, Katelynn, Fulmer, Diana, Moore, Kelsey, Yu, Mengyao, Moore, Reece, Drayton, Ka'la, Glover, Janiece, Peterson, Neal, Ramos-Ortiz, Sandra, Drohan, Alex, Catching, Breiona J., Stairley, Rebecca, Wessels, Andy, Lipschutz, Joshua H., Delling, Francesca N., Jeunemaitre, Xavier, Dina, Christian, Collins, Ryan L., Brand, Harrison, Talkowski, Michael E., del Monte, Federica, Mukherjee, Rupak, Awgulewitsch, Alexander, Body, Simon, Hardiman, Gary, Silveira, Willian Da, Wang, Baolin, Leyne, Maire, Durst, Ronen, Markwald, Roger, Scouranec, Solena Le, Hagege, Albert, Tourneau, Thierry Le, Kohl, Peter, Rog-Zielinska, Eva, Schott, Jean-Jacques, Levine, Robert A., Milan, David, Naji, Nabila Bouatia, Slaugenhaupt, Susan, Norris, Russell A.

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IKBKAP mRNA in Peripheral Blood Leukocytes: A Molecular Marker of Gene Expression and Splicing in Familial Dysautonomia von Gold-von Simson, Gabrielle, Leyne, Maire, Mull, James, Rolnitzky, Linda M, Goldberg, Judith D, Berlin, Dena, Axelrod, Felicia B, Slaugenhaupt, Susan A

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Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? von Mezey, Éva, Parmalee, Alissa, Szalayova, Ildiko, Gill, Sandra P., Cuajungco, Math P., Leyne, Maire, Slaugenhaupt, Susan A., Brownstein, Michael J.

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