PMC Links for Nucleotide (Select 1750468421) - PMC

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Items: 12

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 53698892.

Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations

Xiying Guo, Chaomei Fan, Yanping Wang, Miao Wang, Chi Cai, Yinjian Yang, Shihua Zhao, Fujian Duan, Yishi Li

Medicine (Baltimore) 2017 Mar; 96(11): e6249. Published online 2017 Mar 24. doi: 10.1097/MD.0000000000006249

PMCID:: PMC5369889

Abstract Article PDF–644K

Select item 32065703.

Zasp: A New Z-Band Alternatively Spliced PDZ-Motif Protein

Georgine Faulkner, Alberto Pallavicini, Elide Formentin, Anna Comelli, Chiara Ievolella, Silvia Trevisan, Gladis Bortoletto, Paolo Scannapieco, Michela Salamon, Vincent Mouly, Giorgio Valle, Gerolamo Lanfranchi

J Cell Biol. 1999 Jul 26; 146(2): 465–476. doi: 10.1083/jcb.146.2.465

PMCID:: PMC3206570

Abstract Article PDF–629K

Select item 293024.

Myozenin: An α-actinin- and γ-filamin-binding protein of skeletal muscle Z lines

Fumio Takada, Douglas L. Vander Woude, Hui-Qi Tong, Terri G. Thompson, Simon C. Watkins, Louis M. Kunkel, Alan H. Beggs

Proc Natl Acad Sci U S A. 2001 Feb 13; 98(4): 1595–1600. Published online 2001 Feb 6. doi: 10.1073/pnas.041609698

PMCID:: PMC29302

Abstract Article PDF–556K

Select item 189705.

Calsarcins, a novel family of sarcomeric calcineurin-binding proteins

Norbert Frey, James A. Richardson, Eric N. Olson

Proc Natl Acad Sci U S A. 2000 Dec 19; 97(26): 14632–14637. Published online 2000 Dec 12. doi: 10.1073/pnas.260501097

PMCID:: PMC18970

Abstract Article PDF–413K

Select item 50350846.

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto

PLoS One. 2016; 11(9): e0163362. Published online 2016 Sep 23. doi: 10.1371/journal.pone.0163362

PMCID:: PMC5035084

Abstract Article PDF–1.4M

Select item 37845327.

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling

Jane T. Seto, Kate G.R. Quinlan, Monkol Lek, Xi Fiona Zheng, Fleur Garton, Daniel G. MacArthur, Marshall W. Hogarth, Peter J. Houweling, Paul Gregorevic, Nigel Turner, Gregory J. Cooney, Nan Yang, Kathryn N. North

J Clin Invest. 2013 Oct 1; 123(10): 4255–4263. Published online 2013 Sep 16. doi: 10.1172/JCI67691

PMCID:: PMC3784532

Abstract Article PDF–2.0M

Select item 34407358.

Identification of novel molecular markers for detection of gastric cancer cells in the peripheral blood circulation using genome-wide microarray analysis

NOBUYUKI MATSUMURA, HITOSHI ZEMBUTSU, KOJI YAMAGUCHI, KAZUAKI SASAKI, TETSUHIRO TSURUMA, TOSHIHIKO NISHIDATE, RYUICHI DENNO, KOICHI HIRATA

Exp Ther Med. 2011 Jul-Aug; 2(4): 705–713. Published online 2011 Apr 8. doi: 10.3892/etm.2011.252

PMCID:: PMC3440735

Abstract Article PDF–302K

Select item 33591999.

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

Susana Santos, Vanda Marques, Marina Pires, Leonor Silveira, Helena Oliveira, Vasco Lança, Dulce Brito, Hugo Madeira, J Fonseca Esteves, António Freitas, Isabel M Carreira, Isabel M Gaspar, Carolino Monteiro, Alexandra R Fernandes

BMC Med Genet. 2012; 13: 17. Published online 2012 Mar 19. doi: 10.1186/1471-2350-13-17

PMCID:: PMC3359199

Abstract Article PDF–1.5M

Select item 285894310.

Candidate-gene testing for orphan limb-girdle muscular dystrophies

S Aurino, G Piluso, V Saccone, M Cacciottolo, F D’Amico, M Dionisi, A Totaro, A Belsito, U Di Vicino, V Nigro

Acta Myol. 2008 Dec; 27(3): 90–97.

PMCID:: PMC2858943

Abstract Article PDF–243K

Select item 197850511.

Inference of transcriptional regulation using gene expression data from the bovine and human genomes

Amonida Zadissa, John C McEwan, Chris M Brown

BMC Genomics. 2007; 8: 265. Published online 2007 Aug 3. doi: 10.1186/1471-2164-8-265

PMCID:: PMC1978505

Abstract Article PDF–673K

Select item 141410612.

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

Rong Mao, Xiaowen Wang, Edward L Spitznagel, Jr, Laurence P Frelin, Jason C Ting, Huashi Ding, Jung-whan Kim, Ingo Ruczinski, Thomas J Downey, Jonathan Pevsner

Genome Biol. 2005; 6(13): R107. Published online 2005 Dec 16. doi: 10.1186/gb-2005-6-13-r107