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Items: 1 to 20 of 103

1.
Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure
Federico Riccardi, Giulia Romano, Danilo Licastro, Franco Pagani
PLoS One. 2024; 19(6): e0298965. Published online 2024 Jun 3. doi: 10.1371/journal.pone.0298965
PMCID:
PMC11146744
AbstractArticlePDF–2.3M
2.
Germline Elongator mutations in sonic hedgehog medulloblastoma
Sebastian M. Waszak, Giles W. Robinson, Brian L. Gudenas, Kyle S. Smith, Antoine Forget, Marija Kojic, Jesus Garcia-Lopez, Jennifer Hadley, Kayla V. Hamilton, Emilie Indersie, Ivo Buchhalter, Jules Kerssemakers, Natalie Jäger, Tanvi Sharma, Tobias Rausch, Marcel Kool, Dominik Sturm, David T.W. Jones, Aksana Vasilyeva, Ruth Tatevossian, Geoffrey Neale, Bérangère Lombard, Damarys Loew, Joy Nakitandwe, Michael Rusch, Daniel Bowers, Anne Bendel, Sonia Partap, Murali Chintagumpala, John Crawford, Nicholas Gottardo, Amy Smith, Christelle Dufour, Stefan Rutkowski, Tone Eggen, Finn Wesenberg, Kristina Kjaerheim, Maria Feychting, Birgitta Lannering, Joachim Schüz, Tina V. Andersen, Martin Röösli, Claudia Kuehni, Michael Grotzer, Marc Remke, Stéphanie Puget, Kristian W. Pajtler, Till Milde, Olaf Witt, Marina Ryzhova, Andrey Korshunov, Brent A. Orr, David W. Ellison, Laurence Brugieres, Peter Lichter, Kim E. Nichols, Amar Gajjar, Brandon J. Wainwright, Olivier Ayrault, Jan O. Korbel, Paul A. Northcott, Stefan M. Pfister
Nature. Author manuscript; available in PMC 2020 Oct 1.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 396–401. Published online 2020 Apr 1. doi: 10.1038/s41586-020-2164-5
PMCID:
PMC7430762
AbstractArticlePDF–1.9M
3.
Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation
Sharon Lefler, Malkiel A. Cohen, Gal Kantor, David Cheishvili, Aviel Even, Anastasya Birger, Tikva Turetsky, Yaniv Gil, Sharona Even-Ram, Einat Aizenman, Nibal Bashir, Channa Maayan, Aharon Razin, Benjamim E. Reubinoff, Miguel Weil
PLoS One. 2015; 10(10): e0138807. Published online 2015 Oct 5. doi: 10.1371/journal.pone.0138807
PMCID:
PMC4593545
AbstractArticlePDF–17M
4.
IKAP/Elp1 Is Required In Vivo for Neurogenesis and Neuronal Survival, but Not for Neural Crest Migration
Barbara J. Hunnicutt, Marta Chaverra, Lynn George, Frances Lefcort
PLoS One. 2012; 7(2): e32050. Published online 2012 Feb 23. doi: 10.1371/journal.pone.0032050
PMCID:
PMC3285659
AbstractArticlePDF–2.5M
5.
Effects of IKAP/hELP1 Deficiency on Gene Expression in Differentiating Neuroblastoma Cells: Implications for Familial Dysautonomia
Rachel Cohen-Kupiec, Metsada Pasmanik-Chor, Varda Oron-Karni, Miguel Weil
PLoS One. 2011; 6(4): e19147. Published online 2011 Apr 29. doi: 10.1371/journal.pone.0019147
PMCID:
PMC3084765
AbstractArticlePDF–448K
6.
Phosphatidylserine Increases IKBKAP Levels in Familial Dysautonomia Cells
Hadas Keren, Maya Donyo, David Zeevi, Channa Maayan, Tal Pupko, Gil Ast
PLoS One. 2010; 5(12): e15884. Published online 2010 Dec 29. doi: 10.1371/journal.pone.0015884
PMCID:
PMC3012102
AbstractArticlePDF–682K
7.
IKAP/hELP1 downregulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression
Rachel Cohen-Kupiec, Shiri Weinstein, Gal Kantor, Dan Peer, Miguel Weil
Cell Adh Migr. 2010 Oct-Dec; 4(4): 541–550. doi: 10.4161/cam.4.4.12923
PMCID:
PMC3011265
AbstractArticlePDF–2.5M
8.
Afferent baroreflex failure in familial dysautonomia
Lucy Norcliffe-Kaufmann, Felicia Axelrod, Horacio Kaufmann
Neurology. 2010 Nov 23; 75(21): 1904–1911. doi: 10.1212/WNL.0b013e3181feb283
PMCID:
PMC2995385
AbstractArticlePDF–1008K
9.
Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia
Math P. Cuajungco, Maire Leyne, James Mull, Sandra P. Gill, Weining Lu, David Zagzag, Felicia B. Axelrod, Channa Maayan, James F. Gusella, Susan A. Slaugenhaupt
Am J Hum Genet. 2003 Mar; 72(3): 749–758. Published online 2003 Feb 6. doi: 10.1086/368263
PMCID:
PMC1180251
AbstractArticlePDF–349K
10.
Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of non-small cell lung cancer patients in the PLCO Cancer Screening Trial
Yi Guo, Yun Feng, Hongliang Liu, Sheng Luo, Jeffrey W. Clarke, Patricia G. Moorman, Li Su, Sipeng Shen, David C. Christiani, Qingyi Wei
Mol Carcinog. Author manuscript; available in PMC 2020 Jul 1.
Published in final edited form as: Mol Carcinog. 2019 Jul; 58(7): 1094–1104. Published online 2019 Apr 15. doi: 10.1002/mc.23017
PMCID:
PMC6548610
AbstractArticlePDF–650K
11.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia
Elisabetta Morini, Dadi Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka, Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory G. Wojtkiewicz, Chien-Ping Ko, Michael E. Talkowski, Ioannis Dragatsis, Susan A. Slaugenhaupt
Am J Hum Genet. 2019 Apr 4; 104(4): 638–650. Published online 2019 Mar 21. doi: 10.1016/j.ajhg.2019.02.009
PMCID:
PMC6451698
AbstractArticlePDF–1.8M
12.
Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells
Gitte H Bruun, Jeanne M V Bang, Lise L Christensen, Sabrina Brøner, Ulrika S S Petersen, Barbara Guerra, Alexander G B Grønning, Thomas K Doktor, Brage S Andresen
Nucleic Acids Res. 2018 Sep 6; 46(15): 7938–7952. Published online 2018 May 14. doi: 10.1093/nar/gky395
PMCID:
PMC6125618
AbstractArticlePDF–3.1M
13.
A humanized IKBKAP transgenic mouse models a tissue specific human splicing defect
Matthew M. Hims, Ranjit S. Shetty, James Pickel, James Mull, Maire Leyne, Lijuan Liu, James F. Gusella, Susan A. Slaugenhaupt
Genomics. Author manuscript; available in PMC 2008 Mar 1.
Published in final edited form as: Genomics. 2007 Sep; 90(3): 389–396. Published online 2007 Jul 17. doi: 10.1016/j.ygeno.2007.05.012
PMCID:
PMC1976430
AbstractArticlePDF–1.1M
14.
Familial Dysautonomia Is Caused by Mutations of the IKAP Gene
Sylvia L. Anderson, Rocco Coli, Ira W. Daly, Elizabeth A. Kichula, Matthew J. Rork, Sabrina A. Volpi, Josef Ekstein, Berish Y. Rubin
Am J Hum Genet. 2001 Mar; 68(3): 753–758. Published online 2001 Jan 22. doi: 10.1086/318808
PMCID:
PMC1274486
AbstractArticlePDF–1.0M
15.
Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia
Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra P. Gill, Maire Leyne, James Mull, Math P. Cuajungco, Christopher B. Liebert, Brian Chadwick, Maria Idelson, Luba Reznik, Christiane M. Robbins, Izabela Makalowska, Michael J. Brownstein, Daniel Krappmann, Claus Scheidereit, Channa Maayan, Felicia B. Axelrod, James F. Gusella
Am J Hum Genet. 2001 Mar; 68(3): 598–605. Published online 2001 Jan 22. doi: 10.1086/318810
PMCID:
PMC1274473
AbstractArticlePDF–1.2M
16.
Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model
Irving Donadon, Mirko Pinotti, Katarzyna Rajkowska, Giulia Pianigiani, Elena Barbon, Elisabetta Morini, Helena Motaln, Boris Rogelj, Federico Mingozzi, Susan A Slaugenhaupt, Franco Pagani
Hum Mol Genet. 2018 Jul 15; 27(14): 2466–2476. Published online 2018 Apr 25. doi: 10.1093/hmg/ddy151
Correction in:
Hum Mol Genet. 2024 Mar 21
PMCID:
PMC6030917
AbstractArticlePDF–682K
17.
MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia
Mylène Hervé, El Chérif Ibrahim
Dis Model Mech. 2016 Aug 1; 9(8): 899–909. doi: 10.1242/dmm.025841
PMCID:
PMC5007982
AbstractArticle
18.
Fine mapping of the 9q31 Hirschsprung’s disease locus
C. S. Tang, Y. Sribudiani, X. P. Miao, A. R. de Vries, G. Burzynski, M. T. So, Y. Y. Leon, B. H. Yip, J. Osinga, K. J. W. S. Hui, J. B. G. M. Verheij, S. S. Cherny, P. K. H. Tam, P. C. Sham, R. M. W. Hofstra, M. M. Garcia-Barceló
Hum Genet. 2010; 127(6): 675–683. Published online 2010 Apr 2. doi: 10.1007/s00439-010-0813-8
PMCID:
PMC2871095
AbstractArticlePDF–365K
19.
The Many Faces of Elongator in Neurodevelopment and Disease
Marija Kojic, Brandon Wainwright
Front Mol Neurosci. 2016; 9: 115. Published online 2016 Nov 1. doi: 10.3389/fnmol.2016.00115
PMCID:
PMC5088202
AbstractArticlePDF–1.5M
20.
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation
Annelies Rotthier, Jonathan Baets, Els De Vriendt, An Jacobs, Michaela Auer-Grumbach, Nicolas Lévy, Nathalie Bonello-Palot, Sara Sebnem Kilic, Joachim Weis, Andrés Nascimento, Marielle Swinkels, Moyo C. Kruyt, Albena Jordanova, Peter De Jonghe, Vincent Timmerman
Brain. 2009 Oct; 132(10): 2699–2711. Published online 2009 Aug 3. doi: 10.1093/brain/awp198
PMCID:
PMC2759337
AbstractArticlePDF–377K

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