PMC Links for Nucleotide (Select 1732746142) - PMC

Select item 64885991.

Dystrophy-associated caveolin-3 mutations reveal that caveolae couple IL6/STAT3 signaling with mechanosensing in human muscle cells

Melissa Dewulf, Darius Vasco Köster, Bidisha Sinha, Christine Viaris de Lesegno, Valérie Chambon, Anne Bigot, Mona Bensalah, Elisa Negroni, Nicolas Tardif, Joanna Podkalicka, Ludger Johannes, Pierre Nassoy, Gillian Butler-Browne, Christophe Lamaze, Cedric M. Blouin

Nat Commun. 2019; 10: 1974. Published online 2019 Apr 29. doi: 10.1038/s41467-019-09405-5

PMCID:: PMC6488599

Abstract Article PDF–3.9M

Select item 58525182.

The expression of the rare caveolin-3 variant T78M alters cardiac ion channels function and membrane excitability

Giulia Campostrini, Mattia Bonzanni, Alessio Lissoni, Claudia Bazzini, Raffaella Milanesi, Elena Vezzoli, Maura Francolini, Mirko Baruscotti, Annalisa Bucchi, Ilaria Rivolta, Matteo Fantini, Stefano Severi, Riccardo Cappato, Lia Crotti, Peter J. Schwartz, Dario DiFrancesco, Andrea Barbuti

Cardiovasc Res. 2017 Aug; 113(10): 1256–1265. Published online 2017 Jun 21. doi: 10.1093/cvr/cvx122

PMCID:: PMC5852518

Abstract Article PDF–540K

Select item 57714203.

Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain-Specific Interaction: Implications for Purkinje cell-Dependent Ventricular Arrhythmias

Ravi Vaidyanathan, Hanora Van Ert, Kazi T Haq, Stefano Morotti, Samuel Esch, Elise C. McCune, Eleonora Grandi, Lee L. Eckhardt

Circ Arrhythm Electrophysiol. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Circ Arrhythm Electrophysiol. 2018 Jan; 11(1): e005800. doi: 10.1161/CIRCEP.117.005800

PMCID:: PMC5771420

Abstract Article PDF–1.1M

Select item 64187514.

Long QT syndrome caveolin‐3 mutations differentially modulate K_v4 and Ca_v1.2 channels to contribute to action potential prolongation

Leonid Tyan, Jason D. Foell, Kevin P. Vincent, Marites T. Woon, Walatta T. Mesquitta, Di Lang, Jabe M. Best, Michael J. Ackerman, Andrew D. McCulloch, Alexey V. Glukhov, Ravi C. Balijepalli, Timothy J. Kamp

J Physiol. 2019 Mar 15; 597(6): 1531–1551. Published online 2019 Jan 24. doi: 10.1113/JP276014

PMCID:: PMC6418751

Abstract Article PDF–2.4M

Select item 60893385.

A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability

Giulia Campostrini, Jacopo C. DiFrancesco, Barbara Castellotti, Raffaella Milanesi, Tomaso Gnecchi-Ruscone, Mattia Bonzanni, Annalisa Bucchi, Mirko Baruscotti, Carlo Ferrarese, Silvana Franceschetti, Laura Canafoglia, Francesca Ragona, Elena Freri, Angelo Labate, Antonio Gambardella, Cinzia Costa, Cinzia Gellera, Tiziana Granata, Andrea Barbuti, Dario DiFrancesco

Front Mol Neurosci. 2018; 11: 269. Published online 2018 Aug 6. doi: 10.3389/fnmol.2018.00269

PMCID:: PMC6089338

Abstract Article PDF–3.0M

Select item 50006376.

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

Speranza Rubattu, Cristina Bozzao, Ermelinda Pennacchini, Erika Pagannone, Beatrice Maria Musumeci, Maria Piane, Aldo Germani, Camilla Savio, Pietro Francia, Massimo Volpe, Camillo Autore, Luciana Chessa

Int J Mol Sci. 2016 Aug; 17(8): 1239. Published online 2016 Jul 30. doi: 10.3390/ijms17081239

PMCID:: PMC5000637

Abstract Article PDF–229K

Select item 45217797.

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Catarina Allegue, Mònica Coll, Jesus Mates, Oscar Campuzano, Anna Iglesias, Beatriz Sobrino, Maria Brion, Jorge Amigo, Angel Carracedo, Pedro Brugada, Josep Brugada, Ramon Brugada

PLoS One. 2015; 10(7): e0133037. Published online 2015 Jul 31. doi: 10.1371/journal.pone.0133037

PMCID:: PMC4521779

Abstract Article PDF–1.2M

Select item 41093848.

Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death

Vincenzo Lariccia, Annamaria Assunta Nasti, Federica Alessandrini, Mauro Pesaresi, Santo Gratteri, Adriano Tagliabracci, Salvatore Amoroso

J Biomed Sci. 2014; 21(1): 58. Published online 2014 Jun 10. doi: 10.1186/1423-0127-21-58

PMCID:: PMC4109384

Abstract Article PDF–1.6M

Select item 37207119.

Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A

Jianding Cheng, Carmen R. Valdivia, Ravi Vaidyanathan, Ravi C. Balijepalli, Michael J. Ackerman, Jonathan C. Makielski

J Mol Cell Cardiol. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Mol Cell Cardiol. 2013 Aug; 61: 102–110. Published online 2013 Mar 26. doi: 10.1016/j.yjmcc.2013.03.013

PMCID:: PMC3720711

Article PDF–2.8M

Select item 335919910.

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 290826111.

Genetic Risk Factors for Hepatopulmonary Syndrome in Patients With Advanced Liver Disease

Kari E. Roberts, Steven M. Kawut, Michael J. Krowka, Robert S. Brown, Jr, James F. Trotter, Vijay Shah, Inga Peter, Hocine Tighiouart, Nandita Mitra, Elizabeth Handorf, James A. Knowles, Steven Zacks, Michael B. Fallon

Gastroenterology. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Gastroenterology. 2010 Jul; 139(1): 130–9.e24. Published online 2010 Mar 24. doi: 10.1053/j.gastro.2010.03.044

PMCID:: PMC2908261

Abstract Article PDF–179K

Select item 279301112.

Androgen Regulated Genes in Human Prostate Xenografts in Mice: Relation to BPH and Prostate Cancer

Harold D. Love, S. Erin Booton, Braden E. Boone, Joan P. Breyer, Tatsuki Koyama, Monica P. Revelo, Scott B. Shappell, Jeffrey R. Smith, Simon W. Hayward

PLoS One. 2009; 4(12): e8384. Published online 2009 Dec 21. doi: 10.1371/journal.pone.0008384

PMCID:: PMC2793011

Abstract Article PDF–444K

Select item 267556813.

Genetic Risk Factors for Portopulmonary Hypertension in Patients with Advanced Liver Disease

Kari E. Roberts, Michael B. Fallon, Michael J. Krowka, Robert S. Brown, James F. Trotter, Inga Peter, Hocine Tighiouart, James A. Knowles, Daniel Rabinowitz, Raymond L. Benza, David B. Badesch, Darren B. Taichman, Evelyn M. Horn, Steven Zacks, Neil Kaplowitz, Steven M. Kawut, for the Pulmonary Vascular Complications of Liver Disease Study Group

Am J Respir Crit Care Med. 2009 May 1; 179(9): 835–842. Published online 2009 Feb 12. doi: 10.1164/rccm.200809-1472OC

PMCID:: PMC2675568

Abstract Article PDF–130K

Select item 109055614.

A method for aligning RNA secondary structures and its application to RNA motif detection

Jianghui Liu, Jason TL Wang, Jun Hu, Bin Tian

BMC Bioinformatics. 2005; 6: 89. Published online 2005 Apr 7. doi: 10.1186/1471-2105-6-89

PMCID:: PMC1090556

Abstract Article PDF–1.2M

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