Search Results - "Leyne, Maire"

Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP by 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 by 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

“…Mutations that affect the splicing of pre-mRNA are a major cause of human disease. Familial dysautonomia (FD) is a recessive neurodegenerative disease caused…”
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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect by Hims, Matthew M., Shetty, Ranjit S., Pickel, James, Mull, James, Leyne, Maire, Liu, Lijuan, Gusella, James F., Slaugenhaupt, Susan A.

“…Familial dysautonomia (FD) is a severe hereditary sensory and autonomic neuropathy, and all patients with FD have a splice mutation in the IKBKAP gene. The FD…”
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Identification of the first non-Jewish mutation in familial Dysautonomia by 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.

“…Familial Dysautonomia is an autosomal recessive disease with a remarkably high carrier frequency in the Ashkenazi Jewish population. It has recently been…”
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Caring for Dependents Travel Awards to Promote Career Advancement of Early Career Faculty with Caregiver Responsibilities by 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 by 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.

“…Two mutations in the gene DCHS1 are shown to cause non-syndromic mitral valve prolapse (MVP), a common cardiac valve disease; understanding the role of DCHS1…”
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Primary cilia defects causing mitral valve prolapse by Toomer, Katelynn A, Yu, Mengyao, Fulmer, Diana, Guo, Lilong, Moore, Kelsey S, Moore, Reece, Drayton, Ka'la D, 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, Hazard, E Starr, da Silveira, Willian A, Wang, Baolin, Leyne, Maire, Durst, Ronen, Markwald, Roger R, Le Scouarnec, Solena, Hagege, Albert, Le Tourneau, Thierry, Kohl, Peter, Rog-Zielinska, Eva A, Ellinor, Patrick T, Levine, Robert A, Milan, David J, Schott, Jean-Jacques, Bouatia-Naji, Nabila, Slaugenhaupt, Susan A, Norris, Russell A

“…Mitral valve prolapse (MVP) affects 1 in 40 people and is the most common indication for mitral valve surgery. MVP can cause arrhythmias, heart failure, and…”
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Design and Implementation of a Leadership Development Program for Early-Stage Investigators: Initial Results by Bredella, Miriam A., Patel, Karan A., Leyne, Maire, Levy, Anne S., Tannous, Bakhos A., Bouxsein, Mary L.

“…Leadership skills are essential for a successful career in medical research but are often not formally taught. To address these gaps, we designed a leadership…”
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Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia by Axelrod, Felicia B, Liebes, Leonard, Gold-von Simson, Gabrielle, Mendoza, Sandra, Mull, James, Leyne, Maire, Norcliffe-Kaufmann, Lucy, Kaufmann, Horacio, Slaugenhaupt, Susan A

“…Familial dysautonomia (FD) is caused by an intronic splice mutation in the IKBKAP gene that leads to partial skipping of exon 20 and tissue-specific reduction…”
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Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia by 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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New locus for autosomal dominant mitral valve prolapse on chromosome 13 : Clinical insights from genetic studies by NESTA, Francesca, LEYNE, Maire, YOSEFY, Chaim, SIMPSON, Charles, DAI, Daisy, MARSHALL, Jane E, HUNG, Judy, SLAUGENHAUPT, Susan A, LEVINE, Robert A

“…Mitral valve prolapse (MVP) is a common disorder associated with mitral regurgitation, endocarditis, heart failure, and sudden death. To date, 2 MVP loci have…”
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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia by 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.

“…Familial dysautonomia (FD; also known as “Riley-Day syndrome”), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital…”
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Specific correction of a splice defect in brain by nutritional supplementation by Shetty, Ranjit S., Gallagher, Cary S., Chen, Yei-Tsung, Hims, Matthew M., Mull, James, Leyne, Maire, Pickel, James, Kwok, David, Slaugenhaupt, Susan A.

“…Recent studies emphasize the importance of mRNA splicing in human genetic disease, as 20-30% of all disease-causing mutations are predicted to result in mRNA…”
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Rescue of a human mRNA splicing defect by the plant cytokinin kinetin by Slaugenhaupt, Susan A., Mull, James, Leyne, Maire, Cuajungco, Math P., Gill, Sandra P., Hims, Matthew M., Quintero, Fabiola, Axelrod, Felicia B., Gusella, James F.

“…The defective splicing of pre-mRNA is a major cause of human disease. Exon skipping is a common result of splice mutations and has been reported in a wide…”
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Abstract 18977: Non-Syndromic Mitral Valve Prolapse From Gene Mutations to Modifiable Mechanisms by 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

“…Abstract only Mitral valve prolapse (MVP) is a common disease affecting nearly 1 in 40 individuals. It is the leading surgical indication for mitral valve…”
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Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia by 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.

“…We recently identified a mutation in the I-κB kinase associated protein ( IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory…”
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Kinetin in Familial Dysautonomia Carriers: Implications for a New Therapeutic Strategy Targeting mRNA Splicing by Gold-von Simson, Gabrielle, Goldberg, Judith D, Rolnitzky, Linda M, Mull, James, Leyne, Maire, Voustianiouk, Andrei, Slaugenhaupt, Susan A, Axelrod, Felicia B

“…Familial dysautonomia (FD) is caused by an intronic splice mutation in the IκB kinase–associated protein gene ( IKBKAP ) that leads to partial skipping of exon…”
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A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4 by Freed, Lisa A., Acierno, James S., Dai, Daisy, Leyne, Maire, Marshall, Jane E., Nesta, Francesca, Levine, Robert A., Slaugenhaupt, Susan A.

“…Mitral valve prolapse (MVP) is a common cardiovascular abnormality in the United States, occurring in ∼2.4% of the general population. Clinically, patients…”
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Mitral Valve Prolapse is Associated with Dysregulated β-catenin Activities by 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 by Gold-von Simson, Gabrielle, Leyne, Maire, Mull, James, Rolnitzky, Linda M, Goldberg, Judith D, Berlin, Dena, Axelrod, Felicia B, Slaugenhaupt, Susan A

“…The common familial dysautonomia (FD) mutation results in tissue specific mis-splicing with reduced amount of wild-type (WT) IκB kinase associated protein gene…”
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