Left ventricular noncompaction: a new form of heart failure.

[1]  Sha Tang,et al.  Left ventricular noncompaction is associated with mutations in the mitochondrial genome. , 2010, Mitochondrion.

[2]  D. Fatkin,et al.  Genetics of dilated cardiomyopathy. , 2010, Heart failure clinics.

[3]  F. Thuny,et al.  Assessment of left ventricular non-compaction in adults: side-by-side comparison of cardiac magnetic resonance imaging with echocardiography. , 2010, Archives of cardiovascular diseases.

[4]  Michael Christiansen,et al.  The genetic basis of long QT and short QT syndromes: A mutation update , 2009, Human mutation.

[5]  W. Shou,et al.  Analysis of Ventricular Hypertrabeculation and Noncompaction Using Genetically Engineered Mouse Models , 2009, Pediatric Cardiology.

[6]  Ju Chen,et al.  Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death. , 2009, Human molecular genetics.

[7]  F. Berger,et al.  Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction , 2008, Circulation.

[8]  J. Towbin,et al.  SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. , 2008, Molecular genetics and metabolism.

[9]  Poliana C. M. Martins,et al.  Animal Models for Genetic Neuromuscular Diseases , 2008, Journal of Molecular Neuroscience.

[10]  J. Finsterer,et al.  Primary myopathies and the heart , 2008, Scandinavian cardiovascular journal : SCJ.

[11]  M. Bang,et al.  "Z"eroing in on the role of Cypher in striated muscle function, signaling, and human disease. , 2007, Trends in cardiovascular medicine.

[12]  T. M. Yelbuz,et al.  Isolated noncompaction of the left ventricular myocardium , 2007, Clinical Research in Cardiology.

[13]  N. Matsumoto,et al.  Recent progress in genetics of Marfan syndrome and Marfan-associated disorders , 2006, Journal of Human Genetics.

[14]  Barry J Maron,et al.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interd , 2006, Circulation.

[15]  C. Subramanyam,et al.  Positive correlations between serum calcineurin activity and left ventricular hypertrophy. , 2005, International journal of cardiology.

[16]  J. Belmont,et al.  Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease , 2004, Pediatrics.

[17]  G. Valle,et al.  Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. , 2003, Journal of the American College of Cardiology.

[18]  J. Belmont,et al.  Clinical Characterization of Left Ventricular Noncompaction in Children: A Relatively Common Form of Cardiomyopathy , 2003, Circulation.

[19]  Chengqun Huang,et al.  Characterization and in Vivo Functional Analysis of Splice Variants of Cypher* , 2003, The Journal of Biological Chemistry.

[20]  Yoram Rudy,et al.  Localization of Sodium Channels in Intercalated Disks Modulates Cardiac Conduction , 2002, Circulation research.

[21]  Y. Capetanaki Desmin cytoskeleton: a potential regulator of muscle mitochondrial behavior and function. , 2002, Trends in cardiovascular medicine.

[22]  J. Finsterer,et al.  Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. , 2002, The American journal of cardiology.

[23]  J. Towbin,et al.  The failing heart , 2002, Nature.

[24]  Qiang Zhou,et al.  Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy , 2001, The Journal of cell biology.

[25]  M. Bang,et al.  Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. , 2001, Journal of molecular biology.

[26]  S. Schwartz,et al.  Cellular and molecular aspects of myocardial dysfunction , 2001, Critical care medicine.

[27]  J. Towbin,et al.  Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome , 2001, Circulation.

[28]  H. Vogel Mitochondrial Myopathies and the Role of the Pathologist in the Molecular Era , 2001, Journal of neuropathology and experimental neurology.

[29]  C. Gregorio,et al.  To the heart of myofibril assembly. , 2000, Trends in cell biology.

[30]  Neil E. Bowles,et al.  The “Final Common Pathway” Hypothesis and Inherited Cardiovascular Disease The Role of Cytoskeletal Proteins in Dilated Cardiomyopathy , 2000, Herz.

[31]  J. Towbin Cardiac Arrhythmias: , 2000 .

[32]  S. Carbonetto,et al.  Chimaeric mice deficient in dystroglycans develop muscular dystrophy and have disrupted myoneural synapses , 1999, Nature Genetics.

[33]  J. Towbin Toward an understanding of the cause of mitral valve prolapse. , 1999, American journal of human genetics.

[34]  H. Hama,et al.  Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. , 1999, Human molecular genetics.

[35]  K. Campbell,et al.  Disruption of the Sarcoglycan–Sarcospan Complex in Vascular Smooth Muscle A Novel Mechanism for Cardiomyopathy and Muscular Dystrophy , 1999, Cell.

[36]  Harry Hines Boulevard,et al.  Role for α-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies , 1999, Nature Cell Biology.

[37]  Qiang Zhou,et al.  Cypher, a Striated Muscle-restricted PDZ and LIM Domain-containing Protein, Binds to α-Actinin-2 and Protein Kinase C* , 1999, The Journal of Biological Chemistry.

[38]  K. Yamada,et al.  Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. , 1999, Journal of the American College of Cardiology.

[39]  A. Sakamoto,et al.  Delineation of genomic deletion in cardiomyopathic hamster , 1999, FEBS letters.

[40]  J. Towbin,et al.  Etiologies of cardiomyopathy and heart failure , 1999, Nature Medicine.

[41]  Y. Kaneda,et al.  Hepatocyte growth factor gene therapy of liver cirrhosis in rats , 1999, Nature Medicine.

[42]  R. Wollmann,et al.  γ-Sarcoglycan Deficiency Leads to Muscle Membrane Defects and Apoptosis Independent of Dystrophin , 1998, The Journal of cell biology.

[43]  Tak W. Mak,et al.  Role of the NF-ATc transcription factor in morphogenesis of cardiac valves and septum , 1998, Nature.

[44]  M. Matzuk,et al.  Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12 , 1998, Nature.

[45]  Y. Murakami,et al.  Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[46]  J. Johnston,et al.  Mutation characterization and genotype-phenotype correlation in Barth syndrome. , 1997, American journal of human genetics.

[47]  J. Carey,et al.  Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. , 1997, American journal of medical genetics.

[48]  K. Campbell,et al.  Animal Models for Muscular Dystrophy Show Different Patterns of Sarcolemmal Disruption , 1997, The Journal of cell biology.

[49]  W. Nelson,et al.  Cadherins, catenins and APC protein: interplay between cytoskeletal complexes and signaling pathways. , 1997, Current opinion in cell biology.

[50]  E. Haan,et al.  The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. , 1997, American journal of human genetics.

[51]  J. Carey,et al.  Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. , 1997, American journal of human genetics.

[52]  G. Fontaine,et al.  About the histology of arrhythmogenic right ventricular dysplasia. , 1997, Circulation.

[53]  J. Sanes,et al.  Skeletal and Cardiac Myopathies in Mice Lacking Utrophin and Dystrophin: A Model for Duchenne Muscular Dystrophy , 1997, Cell.

[54]  Susan C. Brown,et al.  Utrophin-Dystrophin-Deficient Mice as a Model for Duchenne Muscular Dystrophy , 1997, Cell.

[55]  T. Borg,et al.  Mechanical forces regulate focal adhesion and costamere assembly in cardiac myocytes. , 1997, The American journal of physiology.

[56]  J. Massagué,et al.  Mechanism of TGFβ receptor inhibition by FKBP12 , 1997, The EMBO journal.

[57]  Jason T. Su,et al.  Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. , 1997, Circulation.

[58]  Y. Hayashizaki,et al.  Identification of the Syrian hamster cardiomyopathy gene. , 1997, Human molecular genetics.

[59]  K. Campbell,et al.  Muscular dystrophies and the dystrophin-glycoprotein complex. , 1997, Current opinion in neurology.

[60]  M. Pepper,et al.  Transforming growth factor-beta: vasculogenesis, angiogenesis, and vessel wall integrity. , 1997, Cytokine & growth factor reviews.

[61]  K. Miyazono,et al.  Characterization of the Interaction of FKBP12 with the Transforming Growth Factor-β Type I Receptor in Vivo* , 1996, The Journal of Biological Chemistry.

[62]  S. Fleischer,et al.  Selective Binding of FKBP12.6 by the Cardiac Ryanodine Receptor* , 1996, The Journal of Biological Chemistry.

[63]  P. Donahoe,et al.  The Immunophilin FKBP12 Functions as a Common Inhibitor of the TGFβ Family Type I Receptors , 1996, Cell.

[64]  A. Robida,et al.  Ventricular conduction defect in isolated noncompaction of the ventricular myocardium , 1996, Pediatric Cardiology.

[65]  E. Maestrini,et al.  A novel X-linked gene, G4.5. is responsible for Barth syndrome , 1996, Nature Genetics.

[66]  H. Fukuyama,et al.  A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. , 1995, Biochemical and biophysical research communications.

[67]  D. Sillence,et al.  X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. , 1995, Journal of medical genetics.

[68]  N. Silverman,et al.  Isolated noncompaction of ventricular myocardium—detection during fetal life , 1995, Cardiology in the Young.

[69]  Christine E. Seidman,et al.  α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere , 1994, Cell.

[70]  J. Vigoreaux The muscle Z band: lessons in stress management , 1994, Journal of Muscle Research & Cell Motility.

[71]  V. Tiranti,et al.  Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. , 1994, The Journal of clinical investigation.

[72]  William Arbuthnot Sir Lane,et al.  Isolation of the cyclosporin-sensitive T cell transcription factor NFATp. , 1993, Science.

[73]  J. Towbin,et al.  X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus , 1993, Circulation.

[74]  S. Dimauro,et al.  A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). , 1992, American journal of human genetics.

[75]  G. Crabtree,et al.  Identification of calcineurin as a key signalling enzyme in T-lymphocyte activation , 1992, Nature.

[76]  H. Erdjument-Bromage,et al.  FK506 binding protein associated with the calcium release channel (ryanodine receptor). , 1992, The Journal of biological chemistry.

[77]  G. Sinagra,et al.  Left ventricular involvement in right ventricular dysplasia. , 1992, American heart journal.

[78]  B. Clark,et al.  X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. , 1991, The Journal of pediatrics.

[79]  S. Tsuji,et al.  Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients. , 1991, Biochemical and biophysical research communications.

[80]  R F Standaert,et al.  Atomic structure of FKBP-FK506, an immunophilin-immunosuppressant complex , 1991, Science.

[81]  M. Deadman,et al.  Germ-line deletions of mtDNA in mitochondrial myopathy. , 1991, American journal of human genetics.

[82]  R. Tarver,et al.  Noncompaction of ventricular myocardium: CT appearance. , 1991, AJR. American journal of roentgenology.

[83]  F. Baas,et al.  Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. , 1991, American journal of human genetics.

[84]  J. Perloff,et al.  Isolated noncompaction of left ventricular myocardium. A study of eight cases. , 1990, Circulation.

[85]  K. Ohno,et al.  Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. , 1990, Biochemical and biophysical research communications.

[86]  A. Clarke Mitochondrial genome: defects, disease, and evolution. , 1990, Journal of medical genetics.

[87]  D. Wallace,et al.  Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation , 1990, Cell.

[88]  L. Grivell Small, beautiful and essential , 1989, Nature.

[89]  S. Dimauro,et al.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. , 1989, The New England journal of medicine.

[90]  S. Dimauro,et al.  Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. , 1989, Biochemical and biophysical research communications.

[91]  P. Chiemmongkoltip,et al.  Dysplastic cardiac development presenting as cardiomyopathy. , 1988, Archives of pathology & laboratory medicine.

[92]  C. Epstein,et al.  Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease , 1988, Cell.

[93]  L. Benson,et al.  Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism. , 1988, The Journal of pediatrics.

[94]  R. Capaldi,et al.  Complexity and tissue specificity of the mitochondrial respiratory chain , 1988, Journal of bioenergetics and biomembranes.

[95]  Kenji Kawaguchi,et al.  An infant with suspected right ventricular dysplasia presenting unique ventriculograms , 1988, Clinical cardiology.

[96]  A. Harding,et al.  The clinical features of mitochondrial myopathy. , 1986, Brain : a journal of neurology.

[97]  F Bender,et al.  Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids. , 1984, The American journal of cardiology.

[98]  J. Berden,et al.  An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes , 1983, Journal of the Neurological Sciences.

[99]  R Frank,et al.  Right Ventricular Dysplasia: A Report of 24 Adult Cases , 1982, Circulation.

[100]  F. Sanger,et al.  Sequence and organization of the human mitochondrial genome , 1981, Nature.

[101]  R. Rowe,et al.  Congenital absence of the pulmonary valve associated with imperforate membrane type of tricuspid atresia, right ventricular tensor apparatus and intact ventricular septum: a curious developmental complex. , 1979, European journal of cardiology.

[102]  B. Dahms,et al.  An X-linked recessive cardiomyopathy with abnormal mitochondria. , 1979, Pediatrics.

[103]  J. Dusek,et al.  Postnatal persistence of spongy myocardium with embryonic blood supply. , 1975, Archives of pathology.

[104]  S. Rahimtoola,et al.  Anomalous ventricular myocardial patterns in a child with complex congenital heart disease. , 1969, The American journal of cardiology.

[105]  M. Beaulieu,et al.  EMBRYONAL SINUSOIDS IN THE MYOCARDIUM: REPORT OF A CASE SUCCESSFULLY TREATED SURGICALLY. , 1965, Canadian Medical Association journal.

[106]  L. P. Elliott,et al.  PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM* , 1963, British heart journal.

[107]  S. Sherlock THE LIVER IN HEART FAILURE RELATION OF ANATOMICAL, FUNCTIONAL, AND CIRCULATORY CHANGES , 1951, British heart journal.

[108]  S. Bellet,et al.  CONGENITAL HEART DISEASE WITH MULTIPLE CARDIAC ANOMALIES , 1932 .

[109]  N. Silverman,et al.  Cardiac segmental analysis in left ventricular noncompaction: experience in a pediatric population. , 2010, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.

[110]  M. Durieux,et al.  Chapter 5 – Molecular Cardiovascular Medicine , 2008 .

[111]  Rolf Jenni,et al.  Persisting myocardial sinusoids of both ventricles as an isolated anomaly: Echocardiographic, angiographic, and pathologic anatomical findings , 2007, CardioVascular and Interventional Radiology.

[112]  E. Rosenkranz,et al.  Isolated noncompaction of the ventricular myocardium , 2006, Pediatric Cardiology.

[113]  Pinar Ozand Kearns-Sayre syndrome , 2005 .

[114]  Claudia Stöllberger,et al.  Left ventricular hypertrabeculation/noncompaction. , 2004, Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography.

[115]  M. Beckerle,et al.  Striated muscle cytoarchitecture: an intricate web of form and function. , 2002, Annual review of cell and developmental biology.

[116]  P. Hogan,et al.  Transcription factors of the NFAT family: regulation and function. , 1997, Annual review of immunology.

[117]  M. Ritter,et al.  Isolated noncompaction of the myocardium in adults. , 1997, Mayo Clinic proceedings.

[118]  S. Snyder,et al.  Immunophilins and nervous system , 1995, Nature Medicine.

[119]  A. Syvänen,et al.  Quantification of Mitochondrial DNA Carrying the tRNA8344Lys Point Mutation in Myoclonus Epilepsy and Ragged-Red-Fiber Disease , 1993, European journal of human genetics : EJHG.

[120]  D. Wallace,et al.  Mitochondrial DNA mutations and neuromuscular disease. , 1989, Trends in genetics : TIG.

[121]  G. Attardi The elucidation of the human mitochondrial genome: a historical perspective. , 1986, BioEssays : news and reviews in molecular, cellular and developmental biology.