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

[1]  P. Rahko,et al.  Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. , 2008, American heart journal.

[2]  A. Hattersley,et al.  Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C , 2008, American journal of medical genetics. Part A.

[3]  Vijay G Divakaran,et al.  Transforming growth factor-beta receptor antagonism attenuates myocardial fibrosis in mice with cardiac-restricted overexpression of tumor necrosis factor. , 2008, Basic research in cardiology.

[4]  E. Bertini,et al.  Phenotypic clustering of lamin A/C mutations in neuromuscular patients , 2007, Neurology.

[5]  S. Young,et al.  Mouse models of the laminopathies. , 2007, Experimental cell research.

[6]  H. Worman,et al.  "Laminopathies": a wide spectrum of human diseases. , 2007, Experimental cell research.

[7]  R. Dietz,et al.  Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy. , 2007, Molecular genetics and metabolism.

[8]  M. Dubé,et al.  Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans , 2007, Experimental & Molecular Medicine.

[9]  K. Peuhkurinen,et al.  Genetics of dilated cardiomyopathy , 2007, Annals of medicine.

[10]  R. Dietz,et al.  Is there a common genetic basis for all familial cardiomyopathies? , 2007, European journal of heart failure.

[11]  S. Houser,et al.  Loss of beta1D-integrin function in human ischemic cardiomyopathy. , 2007, Basic research in cardiology.

[12]  H. Shiraishi,et al.  Translational activation of 5′-TOP mRNA in pressure overload myocardium , 2007, Basic Research in Cardiology.

[13]  Vijay G Divakaran,et al.  Transforming growth factor-β receptor antagonism attenuates myocardial fibrosis in mice with cardiac-restricted overexpression of tumor necrosis factor , 2007, Basic Research in Cardiology.

[14]  S. Houser,et al.  Loss of β1D-integrin function in human ischemic cardiomyopathy , 2007, Basic Research in Cardiology.

[15]  Francis S. Collins,et al.  Human laminopathies: nuclei gone genetically awry , 2006, Nature Reviews Genetics.

[16]  P. Charron,et al.  The genetic bases of cardiomyopathies , 2006 .

[17]  S. Ellard,et al.  The laminopathies: a clinical review , 2006, Clinical genetics.

[18]  R. Hetzer,et al.  Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: Demand for strategies in the management of presymptomatic lamin A/C mutant carriers , 2006, European journal of heart failure.

[19]  M. Laakso,et al.  Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy , 2005, Heart.

[20]  H. McBride,et al.  In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients , 2005, Journal of Medical Genetics.

[21]  Susan C. Brown,et al.  Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene , 2005, Muscle & nerve.

[22]  R. Dietz,et al.  Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy , 2005, Journal of Molecular Medicine.

[23]  R. Hershberger,et al.  Clinical and genetic issues in familial dilated cardiomyopathy. , 2005, Journal of the American College of Cardiology.

[24]  M. Komajda,et al.  Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. , 2005, European heart journal.

[25]  K. Osterziel,et al.  Dilated cardiomyopathy: more genes means more phenotypes. , 2005, European heart journal.

[26]  P. Flemming,et al.  LMNA Mutations in Cardiac Transplant Recipients , 2005, Cardiology.

[27]  L. Monserrat,et al.  Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. , 2004, The American journal of cardiology.

[28]  A. Csoka,et al.  Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes , 2004, Journal of Medical Genetics.

[29]  H. Crijns,et al.  Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? , 2004, Journal of Molecular Medicine.

[30]  M. Komajda,et al.  Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations , 2003, Journal of medical genetics.

[31]  H. Katus,et al.  Role of nonsustained ventricular tachycardia and programmed ventricular stimulation for risk stratification in patients with idiopathic dilated cardiomyopathy , 2003, Basic Research in Cardiology.

[32]  L. Mestroni,et al.  Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. , 2003, Journal of the American College of Cardiology.

[33]  Eloisa Arbustini,et al.  Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. , 2002, Journal of the American College of Cardiology.

[34]  R. Hershberger,et al.  Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. , 2001, Journal of cardiac failure.

[35]  R. Hetzer,et al.  A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy , 2001 .

[36]  C. Hutchison,et al.  Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? , 2001, Journal of cell science.

[37]  S. Solomon,et al.  Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. , 2001, The New England journal of medicine.

[38]  E. Mercuri,et al.  Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene , 2000, Annals of neurology.

[39]  S. Bione,et al.  Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. , 2000, American journal of human genetics.

[40]  J. Seidman,et al.  Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. , 1999, The New England journal of medicine.

[41]  L. Mestroni,et al.  Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. , 1999, European heart journal.