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Links from Nucleotide

Items: 11

1.
Regional variation in RBM20 causes a highly penetrant arrhythmogenic cardiomyopathy
Victoria N. Parikh, Colleen Caleshu, Chloe Reuter, Laura C. Lazzeroni, Jodie Ingles, John Garcia, Kristen McCaleb, Tolulope Adesiyun, Farbod Sedaghat-Hamedani, Saurabh Kumar, Sharon Graw, Marta Gigli, Davide Stolfo, Matteo Dal Ferro, Alexander Y. Ing, Robert Nussbaum, Birgit Funke, Matthew T. Wheeler, Ray E. Hershberger, Stuart Cook, Lars Steinmetz, Neal K. Lakdawala, Matthew RG Taylor, Luisa Mestroni, Marco Merlo, Gianfranco Sinagra, Christopher Semsarian, Benjamin Meder, Daniel P. Judge, Euan A. Ashley
Circ Heart Fail. Author manuscript; available in PMC 2020 Mar 1.
Published in final edited form as: Circ Heart Fail. 2019 Mar; 12(3): e005371. doi: 10.1161/CIRCHEARTFAILURE.118.005371
PMCID:
PMC6422044
AbstractArticlePDF–685K
2.
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization
Rie Murayama, Mariko Kimura-Asami, Marina Togo-Ohno, Yumiko Yamasaki-Kato, Taeko K. Naruse, Takeshi Yamamoto, Takeharu Hayashi, Tomohiko Ai, Katherine G. Spoonamore, Richard J. Kovacs, Matteo Vatta, Mai Iizuka, Masumi Saito, Shotaro Wani, Yuichi Hiraoka, Akinori Kimura, Hidehito Kuroyanagi
Sci Rep. 2018; 8: 8970. Published online 2018 Jun 12. doi: 10.1038/s41598-018-26624-w
PMCID:
PMC5997748
AbstractArticlePDF–2.9M
3.
Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy
Duanxiang Li, Ana Morales, Jorge Gonzalez‐Quintana, Nadine Norton, Jill D. Siegfried, Mark Hofmeyer, Ray E. Hershberger
Clin Transl Sci. 2010 Jun; 3(3): 90–97. Published online 2010 Jun 7. doi: 10.1111/j.1752-8062.2010.00198.x
PMCID:
PMC2898174
AbstractArticlePDF–4.3M
4.
Mutations in RNA Binding Protein Gene Cause Familial Dilated Cardiomyopathy
Katharine M. Brauch, Margaret L. Karst, Kathleen J. Herron, Mariza de Andrade, Patricia A. Pellikka, Richard J. Rodeheffer, Virginia V. Michels, Timothy M. Olson
J Am Coll Cardiol. Author manuscript; available in PMC 2010 Sep 1.
Published in final edited form as: J Am Coll Cardiol. 2009 Sep 1; 54(10): 930–941. doi: 10.1016/j.jacc.2009.05.038
PMCID:
PMC2782634
AbstractArticlePDF–812K
5.
Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients with Idiopathic Dilated Cardiomyopathy
Xin-Lin Zhang, Jun Xie, Rong-Fang Lan, Li-Na Kang, Lian Wang, Wei Xu, Biao Xu
Sci Rep. 2020; 10: 2226. Published online 2020 Feb 10. doi: 10.1038/s41598-020-58984-7
PMCID:
PMC7010767
AbstractArticlePDF–1.5M
6.
High-frequency actionable pathogenic exome variants in an average-risk cohort
Shannon Rego, Orit Dagan-Rosenfeld, Wenyu Zhou, M. Reza Sailani, Patricia Limcaoco, Elizabeth Colbert, Monika Avina, Jessica Wheeler, Colleen Craig, Denis Salins, Hannes L. Röst, Jessilyn Dunn, Tracey McLaughlin, Lars M. Steinmetz, Jonathan A. Bernstein, Michael P. Snyder
Cold Spring Harb Mol Case Stud. 2018 Dec; 4(6): a003178. doi: 10.1101/mcs.a003178
PMCID:
PMC6318774
AbstractArticlePDF–2.3M
7.
Molecular basis of titin exon exclusion by RBM20 and the novel titin splice regulator PTB4
Vita Dauksaite, Michael Gotthardt
Nucleic Acids Res. 2018 Jun 1; 46(10): 5227–5238. Published online 2018 Mar 6. doi: 10.1093/nar/gky165
PMCID:
PMC6007684
AbstractArticlePDF–4.6M
8.
Identification of MYLK3 mutations in familial dilated cardiomyopathy
Takashige Tobita, Seitaro Nomura, Hiroyuki Morita, Toshiyuki Ko, Takanori Fujita, Haruhiro Toko, Kenta Uto, Nobuhisa Hagiwara, Hiroyuki Aburatani, Issei Komuro
Sci Rep. 2017; 7: 17495. Published online 2017 Dec 13. doi: 10.1038/s41598-017-17769-1
PMCID:
PMC5727479
AbstractArticlePDF–2.9M
9.
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia
Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch
PLoS One. 2017; 12(8): e0181840. Published online 2017 Aug 2. doi: 10.1371/journal.pone.0181840
PMCID:
PMC5540585
AbstractArticlePDF–1.6M
10.
Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene
Rocio Toro, Alexandra Pérez-Serra, Oscar Campuzano, Javier Moncayo-Arlandi, Catarina Allegue, Anna Iglesias, Alipio Mangas, Ramon Brugada
PLoS One. 2016; 11(7): e0158730. Published online 2016 Jul 8. doi: 10.1371/journal.pone.0158730
PMCID:
PMC4938129
AbstractArticlePDF–1.0M
11.
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy
Yue Zhao, Yue Feng, Yun-Mei Zhang, Xiao-Xue Ding, Yu-Zhu Song, A-Mei Zhang, Li Liu, Hong Zhang, Jia-Huan Ding, Xue-Shan Xia
Biomed Res Int. 2015; 2015: 561819. Published online 2015 Jun 24. doi: 10.1155/2015/561819
PMCID:
PMC4495182
AbstractArticlePDF–1.5M

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