PMC Articles for MedGen (Select 1376889) - PMC

Select item 78881281.

Ablation of the N terminus of cardiac essential light chain promotes the super-relaxed state of myosin and counteracts hypercontractility in hypertrophic cardiomyopathy mutant mice

Yoel H. Sitbon, Katarzyna Kazmierczak, Jingsheng Liang, Sunil Yadav, Melanie Veerasammy, Rosemeire M. Kanashiro-Takeuchi, Danuta Szczesna-Cordary

FEBS J. Author manuscript; available in PMC 2021 Feb 17.

Published in final edited form as: FEBS J. 2020 Sep; 287(18): 3989–4004. Published online 2020 Feb 25. doi: 10.1111/febs.15243

PMCID:: PMC7888128

Abstract Article PDF–1.4M

Select item 73766962.

SLC14A1 (UT-B) gene rearrangement in urothelial carcinoma of the bladder: a case report

Zhongying Guo, Xiaobing Niu, Guangbo Fu, Baoxue Yang, Guangping Chen, Su’an Sun

Diagn Pathol. 2020; 15: 94. Published online 2020 Jul 23. doi: 10.1186/s13000-020-01009-8

PMCID:: PMC7376696

Abstract Article PDF–829K

Select item 72524433.

HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure

Beth A Firulli, Rajani M George, Jade Harkin, Kevin P Toolan, Hongyu Gao, Yunlong Liu, Wenjun Zhang, Loren J Field, Ying Liu, Weinian Shou, Ronald Mark Payne, Michael Rubart-von der Lohe, Anthony B Firulli

Cardiovasc Res. 2020 Mar 1; 116(3): 605–618. Published online 2019 Jul 9. doi: 10.1093/cvr/cvz182

PMCID:: PMC7252443

Abstract Article PDF–1.8M

Select item 66552894.

Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders

Josef Finsterer, Gerhard Blazer, Claudia Stöllberger, Andreas Valentin, Dimiter Tscholakoff

Clin Cardiol. 1999 Feb; 22(2): 119–123. Published online 2009 Feb 3. doi: 10.1002/clc.4960220212

PMCID:: PMC6655289

Summary PDF–830K

Select item 65891645.

Myosin regulatory light chain mutation found in hypertrophic cardiomyopathy patients increases isometric force production in transgenic mice

Katarzyna Kazmierczak, Priya Muthu, Wenrui Huang, Michelle Jones, Yingcai Wang, Danuta Szczesna-Cordary

Biochem J. Author manuscript; available in PMC 2019 Jun 23.

Published in final edited form as: Biochem J. 2012 Feb 15; 442(1): 95–103. doi: 10.1042/BJ20111145

PMCID:: PMC6589164

Abstract Article PDF–1016K

Select item 63268416.

Phosphomimetic-mediated in vitro rescue of hypertrophic cardiomyopathy linked to R58Q mutation in myosin regulatory light chain

Sunil Yadav, Katarzyna Kazmierczak, Jingsheng Liang, Yoel H. Sitbon, Danuta Szczesna-Cordary

FEBS J. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: FEBS J. 2019 Jan; 286(1): 151–168. Published online 2018 Dec 1. doi: 10.1111/febs.14702

PMCID:: PMC6326841

Abstract Article PDF–1.8M

Select item 61483287.

Intrinsic mitral valve alterations in hypertrophic cardiomyopathy sarcomere mutation carriers

John D Groarke, Patrycja Z Galazka, Allison L Cirino, Neal K Lakdawala, Jens J Thune, Henning Bundgaard, E John Orav, Robert A Levine, Carolyn Y Ho

Eur Heart J Cardiovasc Imaging. 2018 Oct; 19(10): 1109–1116. Published online 2018 Jul 26. doi: 10.1093/ehjci/jey095

PMCID:: PMC6148328

Abstract Article PDF–449K

Select item 59055898.

New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study

Thierry Le Tourneau, Solena Le Scouarnec, Caroline Cueff, Daniel Bernstein, Jan J J Aalberts, Simon Lecointe, Jean Mérot, Jonathan A Bernstein, Toon Oomen, Christian Dina, Matilde Karakachoff, Hubert Desal, Ousama Al Habash, Francesca N Delling, Romain Capoulade, Albert J H Suurmeijer, David Milan, Russell A Norris, Roger Markwald, Elena Aikawa, Susan A Slaugenhaupt, Xavier Jeunemaitre, Albert Hagège, Jean-Christian Roussel, Jean-Noël Trochu, Robert A Levine, Florence Kyndt, Vincent Probst, Hervé Le Marec, Jean-Jacques Schott

Eur Heart J. 2018 Apr 14; 39(15): 1269–1277. Published online 2017 Sep 6. doi: 10.1093/eurheartj/ehx505

PMCID:: PMC5905589

Abstract Article PDF–782K

Select item 31938689.

The effect of myosin RLC phosphorylation in normal and cardiomyopathic mouse hearts

Priya Muthu, Katarzyna Kazmierczak, Michelle Jones, Danuta Szczesna-Cordary

J Cell Mol Med. 2012 Apr; 16(4): 911–919. Published online 2012 Apr 16. doi: 10.1111/j.1582-4934.2011.01371.x

PMCID:: PMC3193868

Abstract Article PDF–383K

Select item 273427610.

Pressure-Overload Induced Alterations in Fibrillar Collagen Content and Myocardial Diastolic Function: Role of SPARC in Post-Synthetic Procollagen Processing

Amy D. Bradshaw, Catalin F. Baicu, Tyler J. Rentz, An O. Van Laer, Janet Boggs, John M. Lacy, Michael R. Zile

Circulation. Author manuscript; available in PMC 2010 Jan 20.

Published in final edited form as: Circulation. 2009 Jan 20; 119(2): 269–280. Published online 2008 Dec 31. doi: 10.1161/CIRCULATIONAHA.108.773424

PMCID:: PMC2734276

Abstract Article PDF–1.4M

Select item 50755911.

RXR alpha deficiency confers genetic susceptibility for aortic sac, conotruncal, atrioventricular cushion, and ventricular muscle defects in mice.

P J Gruber, S W Kubalak, T Pexieder, H M Sucov, R M Evans, K R Chien

J Clin Invest. 1996 Sep 15; 98(6): 1332–1343. doi: 10.1172/JCI118920

PMCID:: PMC507559

Summary PDF–908K

Select item 640456412.

Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain

Katarzyna Kazmierczak, Jingsheng Liang, Chen-Ching Yuan, Sunil Yadav, Yoel H. Sitbon, Katherina Walz, Weikang Ma, Thomas C. Irving, Jenice X. Cheah, Aldrin V. Gomes, Danuta Szczesna-Cordary

FASEB J. 2019 Mar; 33(3): 3152–3166. Published online 2018 Oct 26. doi: 10.1096/fj.201801402R

PMCID:: PMC6404564

Abstract Article

Select item 585263113.

Hypercontractile mutant of ventricular myosin essential light chain leads to disruption of sarcomeric structure and function and results in restrictive cardiomyopathy in mice

Chen-Ching Yuan, Katarzyna Kazmierczak, Jingsheng Liang, Rosemeire Kanashiro-Takeuchi, Thomas C. Irving, Aldrin V. Gomes, Yihua Wang, Thomas P. Burghardt, Danuta Szczesna-Cordary

Cardiovasc Res. 2017 Aug; 113(10): 1124–1136. Published online 2017 Mar 23. doi: 10.1093/cvr/cvx060

PMCID:: PMC5852631

Abstract Article PDF–1.0M

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