PMC Links for Nucleotide (Select 403501445) - PMC

Select item 67575831.

Activation of Rac GTPase by p75 Is Necessary for c-jun N-Terminal Kinase-Mediated Apoptosis

Anthony W. Harrington, Ju Young Kim, Sung Ok Yoon

J Neurosci. 2002 Jan 1; 22(1): 156–166. doi: 10.1523/JNEUROSCI.22-01-00156.2002

PMCID:: PMC6757583

Abstract Article PDF–582K

Select item 58967642.

Obscurin Variants in Patients With Left Ventricular Noncompaction

Teisha J. Rowland, Sharon L. Graw, Mary E. Sweet, Marta Gigli, Matthew R.G. Taylor, Luisa Mestroni

J Am Coll Cardiol. Author manuscript; available in PMC 2018 Apr 12.

Published in final edited form as: J Am Coll Cardiol. 2016 Nov 15; 68(20): 2237–2238. doi: 10.1016/j.jacc.2016.08.052

PMCID:: PMC5896764

Article PDF–285K

Select item 56946673.

Novel obscurins mediate cardiomyocyte adhesion and size via the PI3K/AKT/mTOR signaling pathway

Maegen A. Ackermann, Brendan King, Nicole A.P. Lieberman, Prameela J. Bobbili, Michael Rudloff, Christopher E. Berndsen, Nathan T. Wright, Peter A. Hecker, Aikaterini Kontrogianni-Konstantopoulos

J Mol Cell Cardiol. Author manuscript; available in PMC 2017 Nov 19.

Published in final edited form as: J Mol Cell Cardiol. 2017 Oct; 111: 27–39. Published online 2017 Aug 4. doi: 10.1016/j.yjmcc.2017.08.004

PMCID:: PMC5694667

Abstract Article PDF–3.3M

Select item 56579764.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A. Caldwell, Rachel A. Policke, Esraa Aldkheil, Christopher E. Berndsen, Nathan T. Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino

PLoS One. 2017; 12(10): e0186642. Published online 2017 Oct 26. doi: 10.1371/journal.pone.0186642

PMCID:: PMC5657976

Abstract Article PDF–8.9M

Select item 52225885.

Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection

Stefano Pernigo, Atsushi Fukuzawa, Amy E.M. Beedle, Mark Holt, Adam Round, Alessandro Pandini, Sergi Garcia-Manyes, Mathias Gautel, Roberto A. Steiner

Structure. 2017 Jan 3; 25(1): 107–120. doi: 10.1016/j.str.2016.11.015

PMCID:: PMC5222588

Abstract Article PDF–4.8M

Select item 21968756.

Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly

Paul Young, Elisabeth Ehler, Mathias Gautel

J Cell Biol. 2001 Jul 9; 154(1): 123–136. doi: 10.1083/jcb.200102110

PMCID:: PMC2196875

Abstract Article PDF–1.2M

Select item 67469877.

CeRNA Expression Profiling Identifies KIT-Related circRNA-miRNA-mRNA Networks in Gastrointestinal Stromal Tumour

Ning Jia, Hanxing Tong, Yong Zhang, Hiroshi Katayama, Yuan Wang, Weiqi Lu, Sumei Zhang, Jin Wang

Front Genet. 2019; 10: 825. Published online 2019 Sep 10. doi: 10.3389/fgene.2019.00825

PMCID:: PMC6746987

Abstract Article PDF–2.1M

Select item 65990668.

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha M. Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld-Huijssoon, Jelkje J. Boer-Bergsma, Pytrik Folkertsma, Tessa Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D. H. Jongbloed, Conny M. A. van Ravenswaaij-Arts, Richard Sinke, Birgit Sikkema-Raddatz, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Lude Franke

Nat Commun. 2019; 10: 2837. Published online 2019 Jun 28. doi: 10.1038/s41467-019-10649-4

PMCID:: PMC6599066

Abstract Article PDF–2.0M

Select item 61028569.

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation

Yubi Lin, Jiana Huang, Siqi He, Ruiling Feng, ZhiAn Zhong, Yang Liu, Weitao Ye, Xin Li, Hongtao Liao, Hongwen Fei, Fang Rao, Zhixin Shan, Chunyu Deng, Xianzhang Zhan, Yumei Xue, Hui Liu, Bin Zhang, Kejian Wang, Qianhuan Zhang, Shulin Wu, Xiufang Lin

BMC Med Genet. 2018; 19: 148. Published online 2018 Aug 21. doi: 10.1186/s12881-018-0580-2

PMCID:: PMC6102856

Abstract Article PDF–3.4M

Select item 584935410.

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)

Yong Liu, Yu Cao, Yaxiong Li, Dongyun Lei, Lin Li, Zong Liu Hou, Shen Han, Mingyao Meng, Jianlin Shi, Yayong Zhang, Yi Wang, Zhaoyi Niu, Yanhua Xie, Benshan Xiao, Yuanfei Wang, Xiao Li, Lirong Yang, Wenju Wang, Lihong Jiang

Med Sci Monit. 2018; 24: 1340–1358. Published online 2018 Mar 5. doi: 10.12659/MSM.908923

PMCID:: PMC5849354

Abstract Article PDF–4.2M

Select item 559095011.

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Deidre R. Krupp, Rebecca A. Barnard, Yannis Duffourd, Sara A. Evans, Ryan M. Mulqueen, Raphael Bernier, Jean-Baptiste Rivière, Eric Fombonne, Brian J. O’Roak

Am J Hum Genet. 2017 Sep 7; 101(3): 369–390. Published online 2017 Aug 31. doi: 10.1016/j.ajhg.2017.07.016

PMCID:: PMC5590950

Abstract Article PDF–2.0M

Select item 558999012.

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

Stephanie A Schubert, Dina Ruano, Fadwa A Elsayed, Arnoud Boot, Stijn Crobach, Arantza Farina Sarasqueta, Bruce Wolffenbuttel, Melanie M van der Klauw, Jan Oosting, Carli M Tops, Ronald van Eijk, Hans FA Vasen, Rolf HAM Vossen, Maartje Nielsen, Sergi Castellví-Bel, Clara Ruiz-Ponte, Ian Tomlinson, Malcolm G Dunlop, Pavel Vodicka, Juul T Wijnen, Frederik J Hes, Hans Morreau, Noel FCC de Miranda, Rolf H Sijmons, Tom van Wezel

Br J Cancer. 2017 Oct 10; 117(8): 1215–1223. Published online 2017 Jul 25. doi: 10.1038/bjc.2017.240

Correction in:: Br J Cancer. 2018 Jan; 118(2): e4.

PMCID:: PMC5589990

Abstract Article PDF–995K

Select item 553146813.

Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies

Cinzia Forleo, Anna Maria D’Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale

PLoS One. 2017; 12(7): e0181842. Published online 2017 Jul 27. doi: 10.1371/journal.pone.0181842

PMCID:: PMC5531468

Abstract Article PDF–1.7M

Select item 521673114.

Giant obscurins regulate the PI3K cascade in breast epithelial cells via direct binding to the PI3K/p85 regulatory subunit

Marey Shriver, Saravanakumar Marimuthu, Colin Paul, Janelle Geist, Tessa Seale, Konstantinos Konstantopoulos, Aikaterini Kontrogianni-Konstantopoulos

Oncotarget. 2016 Jul 19; 7(29): 45414–45428. Published online 2016 Jun 13. doi: 10.18632/oncotarget.9985

PMCID:: PMC5216731

Abstract Article PDF–9.3M

Select item 475493815.

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

Akshatha Desai, John J. Connolly, Michael March, Cuiping Hou, Rosetta Chiavacci, Cecilia Kim, Gholson Lyon, Dexter Hadley, Hakon Hakonarson

BMC Musculoskelet Disord. 2016; 17: 80. Published online 2016 Feb 16. doi: 10.1186/s12891-016-0936-8

PMCID:: PMC4754938

Abstract Article PDF–1.4M

Select item 464783316.

Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing

Jing Xu, Zhongshan Li, Xianguo Ren, Ming Dong, Jinxin Li, Xingjuan Shi, Yu Zhang, Wei Xie, Zhongsheng Sun, Xiangdong Liu, Qiming Dai

Sci Rep. 2015; 5: 16609. Published online 2015 Nov 17. doi: 10.1038/srep16609

PMCID:: PMC4647833

Abstract Article PDF–980K

Select item 391644117.

Obscurins: Goliaths and Davids Take over Non-Muscle Tissues

Maegen A. Ackermann, Marey Shriver, Nicole A. Perry, Li-Yen R. Hu, Aikaterini Kontrogianni-Konstantopoulos

PLoS One. 2014; 9(2): e88162. Published online 2014 Feb 6. doi: 10.1371/journal.pone.0088162

Correction in:: PLoS One. 2018; 13(1): e0190842.

PMCID:: PMC3916441

Abstract Article PDF–37M

Select item 379072018.

Transcription Factors OVOL1 and OVOL2 Induce the Mesenchymal to Epithelial Transition in Human Cancer

Hernan Roca, James Hernandez, Savannah Weidner, Richard C. McEachin, David Fuller, Sudha Sud, Taibriana Schumann, John E. Wilkinson, Alexander Zaslavsky, Hangwen Li, Christopher A. Maher, Stephanie Daignault-Newton, Patrick N. Healy, Kenneth J. Pienta

PLoS One. 2013; 8(10): e76773. Published online 2013 Oct 4. doi: 10.1371/journal.pone.0076773

PMCID:: PMC3790720

Abstract Article PDF–3.6M

Select item 344674319.

A Prevalence of Imprinted Genes within the Total Transcriptomes of Human Tissues and Cells

Sergey V. Anisimov

Mol Biol Int. 2012; 2012: 793506. Published online 2012 Sep 11. doi: 10.1155/2012/793506

PMCID:: PMC3446743

Abstract Article PDF–10M

Select item 335630920.

A Computational Profiling of Changes in Gene Expression and Transcription Factors Induced by vFLIP K13 in Primary Effusion Lymphoma

Vasu Punj, Hittu Matta, Preet M. Chaudhary

PLoS One. 2012; 7(5): e37498. Published online 2012 May 18. doi: 10.1371/journal.pone.0037498

PMCID:: PMC3356309

Abstract Article PDF–1.2M

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