PMC Links for Nucleotide (Select 291045227) - PMC

Select item 28967071.

Roles of Titin in the Structure and Elasticity of the Sarcomere

Larissa Tskhovrebova, John Trinick

J Biomed Biotechnol. 2010; 2010: 612482. Published online 2010 Jun 21. doi: 10.1155/2010/612482

PMCID:: PMC2896707

Select item 63234172.

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project

Ozge Ceyhan-Birsoy, Jaclyn B. Murry, Kalotina Machini, Matthew S. Lebo, Timothy W. Yu, Shawn Fayer, Casie A. Genetti, Talia S. Schwartz, Pankaj B. Agrawal, Richard B. Parad, Ingrid A. Holm, Amy L. McGuire, Robert C. Green, Heidi L. Rehm, Alan H. Beggs, The BabySeq Project Team

Am J Hum Genet. 2019 Jan 3; 104(1): 76–93. Published online 2019 Jan 3. doi: 10.1016/j.ajhg.2018.11.016

PMCID:: PMC6323417

Abstract Article PDF–412K

Select item 56358893.

Functional screening in human cardiac organoids reveals a metabolic mechanism for cardiomyocyte cell cycle arrest

Richard J. Mills, Drew M. Titmarsh, Xaver Koenig, Benjamin L. Parker, James G. Ryall, Gregory A. Quaife-Ryan, Holly K. Voges, Mark P. Hodson, Charles Ferguson, Lauren Drowley, Alleyn T. Plowright, Elise J. Needham, Qing-Dong Wang, Paul Gregorevic, Mei Xin, Walter G. Thomas, Robert G. Parton, Lars K. Nielsen, Bradley S. Launikonis, David E. James, David A. Elliott, Enzo R. Porrello, James E. Hudson

Proc Natl Acad Sci U S A. 2017 Oct 3; 114(40): E8372–E8381. Published online 2017 Sep 15. doi: 10.1073/pnas.1707316114

PMCID:: PMC5635889

Abstract Article PDF–1.8M

Select item 51236234.

Increasing Role of Titin Mutations in Neuromuscular Disorders

Marco Savarese, Jaakko Sarparanta, Anna Vihola, Bjarne Udd, Peter Hackman

J Neuromuscul Dis. 2016; 3(3): 293–308. Prepublished online 2016 Aug 22. Published online 2016 Aug 30. doi: 10.3233/JND-160158

PMCID:: PMC5123623

Abstract Article PDF–361K

Select item 50652985.

Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis

Alessandro Salvi, Edoardo Giacopuzzi, Elena Bardellini, Francesca Amadori, Lia Ferrari, Giuseppina De Petro, Giuseppe Borsani, Alessandra Majorana

Int J Mol Med. 2016 Nov; 38(5): 1338–1348. Published online 2016 Sep 19. doi: 10.3892/ijmm.2016.2742

PMCID:: PMC5065298

Abstract Article PDF–932K

Select item 49132156.

Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant

Anneli Svensson, Meriam Åström-Aneq, Kjerstin Ferm Widlund, Christina Fluur, Anna Green, Malin Rehnberg, Cecilia Gunnarsson

Am J Cardiovasc Dis. 2016; 6(2): 55–65. Published online 2016 May 18.

PMCID:: PMC4913215

Abstract Article PDF–500K

Select item 38156067.

Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrates the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy

Nadine Norton, Duanxiang Li, Evadnie Rampersaud, Ana Morales, Eden R. Martin, Stephan Zuchner, Shengru Guo, Michael Gonzalez, Dale J. Hedges, Peggy D. Robertson, Niklas Krumm, Deborah A. Nickerson, Ray E. Hershberger

Circ Cardiovasc Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Circ Cardiovasc Genet. 2013 Apr; 6(2): 10.1161/CIRCGENETICS.111.000062. Published online 2013 Feb 15. doi: 10.1161/CIRCGENETICS.111.000062

PMCID:: PMC3815606

Abstract Article PDF–154K

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