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Items: 1 to 20 of 270

1.

The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins.

Al-Saaidi R, Rasmussen TB, Palmfeldt J, Nissen PH, Beqqali A, Hansen J, Pinto YM, Boesen T, Mogensen J, Bross P.

Exp Cell Res. 2013 Nov 15;319(19):3010-9. doi: 10.1016/j.yexcr.2013.08.024. Epub 2013 Aug 31.

PMID:
24001739
2.

Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.

Geiger SK, Bär H, Ehlermann P, Wälde S, Rutschow D, Zeller R, Ivandic BT, Zentgraf H, Katus HA, Herrmann H, Weichenhan D.

J Mol Med (Berl). 2008 Mar;86(3):281-9. Epub 2007 Nov 7.

PMID:
17987279
3.

Heterozygous LmnadelK32 mice develop dilated cardiomyopathy through a combined pathomechanism of haploinsufficiency and peptide toxicity.

Cattin ME, Bertrand AT, Schlossarek S, Le Bihan MC, Skov Jensen S, Neuber C, Crocini C, Maron S, Lainé J, Mougenot N, Varnous S, Fromes Y, Hansen A, Eschenhagen T, Decostre V, Carrier L, Bonne G.

Hum Mol Genet. 2013 Aug 1;22(15):3152-64. doi: 10.1093/hmg/ddt172. Epub 2013 Apr 10.

4.

Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations.

Arimura T, Onoue K, Takahashi-Tanaka Y, Ishikawa T, Kuwahara M, Setou M, Shigenobu S, Yamaguchi K, Bertrand AT, Machida N, Takayama K, Fukusato M, Tanaka R, Somekawa S, Nakano T, Yamane Y, Kuba K, Imai Y, Saito Y, Bonne G, Kimura A.

Cardiovasc Res. 2013 Aug 1;99(3):382-94. doi: 10.1093/cvr/cvt106. Epub 2013 Apr 30.

PMID:
23631840
5.

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease.

Wolf CM, Wang L, Alcalai R, Pizard A, Burgon PG, Ahmad F, Sherwood M, Branco DM, Wakimoto H, Fishman GI, See V, Stewart CL, Conner DA, Berul CI, Seidman CE, Seidman JG.

J Mol Cell Cardiol. 2008 Feb;44(2):293-303. doi: 10.1016/j.yjmcc.2007.11.008. Epub 2007 Dec 3.

6.

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.

Taylor MR, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR, Carniel E, Di Lenarda A, Sinagra G, Boucek MM, Cavanaugh J, Graw SL, Ruegg P, Feiger J, Zhu X, Ferguson DA, Bristow MR, Gotzmann J, Foisner R, Mestroni L; Familial Cardiomyopathy Registry Research Group.

Hum Mutat. 2005 Dec;26(6):566-74.

PMID:
16247757
7.

Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.

Narula N, Favalli V, Tarantino P, Grasso M, Pilotto A, Bellazzi R, Serio A, Gambarin FI, Charron P, Meder B, Pinto Y, Elliott PM, Mogensen J, Bolognesi M, Bollati M, Arbustini E.

J Am Coll Cardiol. 2012 Nov 6;60(19):1916-20. doi: 10.1016/j.jacc.2012.05.059. Epub 2012 Oct 10.

8.

In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.

Sylvius N, Bilinska ZT, Veinot JP, Fidzianska A, Bolongo PM, Poon S, McKeown P, Davies RA, Chan KL, Tang AS, Dyack S, Grzybowski J, Ruzyllo W, McBride H, Tesson F.

J Med Genet. 2005 Aug;42(8):639-47.

9.

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L.

J Am Coll Cardiol. 2002 Mar 20;39(6):981-90.

10.

Effects of mechanical stress and carvedilol in lamin A/C-deficient dilated cardiomyopathy.

Chandar S, Yeo LS, Leimena C, Tan JC, Xiao XH, Nikolova-Krstevski V, Yasuoka Y, Gardiner-Garden M, Wu J, Kesteven S, Karlsdotter L, Natarajan S, Carlton A, Rainer S, Feneley MP, Fatkin D.

Circ Res. 2010 Feb 19;106(3):573-82. doi: 10.1161/CIRCRESAHA.109.204388. Epub 2009 Dec 17.

11.

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice.

Nikolova V, Leimena C, McMahon AC, Tan JC, Chandar S, Jogia D, Kesteven SH, Michalicek J, Otway R, Verheyen F, Rainer S, Stewart CL, Martin D, Feneley MP, Fatkin D.

J Clin Invest. 2004 Feb;113(3):357-69.

12.

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.

Gupta P, Bilinska ZT, Sylvius N, Boudreau E, Veinot JP, Labib S, Bolongo PM, Hamza A, Jackson T, Ploski R, Walski M, Grzybowski J, Walczak E, Religa G, Fidzianska A, Tesson F.

Basic Res Cardiol. 2010 May;105(3):365-77. doi: 10.1007/s00395-010-0085-4. Epub 2010 Feb 3.

13.

Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.

Forleo C, Carmosino M, Resta N, Rampazzo A, Valecce R, Sorrentino S, Iacoviello M, Pisani F, Procino G, Gerbino A, Scardapane A, Simone C, Calore M, Torretta S, Svelto M, Favale S.

PLoS One. 2015 Apr 2;10(4):e0121723. doi: 10.1371/journal.pone.0121723. eCollection 2015.

14.

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C.

Basic Res Cardiol. 2009 Jan;104(1):90-9. doi: 10.1007/s00395-008-0748-6. Epub 2008 Sep 15.

PMID:
18795223
15.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.

N Engl J Med. 1999 Dec 2;341(23):1715-24.

16.

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

Mounkes LC, Kozlov SV, Rottman JN, Stewart CL.

Hum Mol Genet. 2005 Aug 1;14(15):2167-80. Epub 2005 Jun 22.

PMID:
15972724
17.

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP; Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands.

Am Heart J. 2007 Dec;154(6):1130-9. Epub 2007 Sep 14.

PMID:
18035086
18.

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L; Familial Dilated Cardiomyopathy Registry Research Group.

J Am Coll Cardiol. 2003 Mar 5;41(5):771-80. Erratum in: J Am Coll Cardiol. 2003 Aug 6;42(3):590.

19.

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

Stallmeyer B, Koopmann M, Schulze-Bahr E.

Genet Test Mol Biomarkers. 2012 Jun;16(6):543-9. doi: 10.1089/gtmb.2011.0214. Epub 2012 Jan 6.

PMID:
22224630
20.

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, Charniot JC, Schwartz K, Villard E, Komajda M.

J Med Genet. 2003 Aug;40(8):560-7.

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