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La ricerca find articoli where soggetti phrase all words 'FAMILIAL HYPERTROPHIC CARDIOMYOPATHY' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 295 riferimenti
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    1. Hernandez, OM; Housmans, PR; Potter, JD
      Plasticity in skeletal cardiac, and smooth muscle - Invited review: Pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation

      JOURNAL OF APPLIED PHYSIOLOGY
    2. Semsarian, C; Seidman, CE
      Molecular medicine in the 21st century

      INTERNAL MEDICINE JOURNAL
    3. Komajda, M; Charron, P
      How will the human genome project change cardiovascular medicine?

      HEART
    4. Komajda, M; Charron, P
      The heart of genomics

      NATURE MEDICINE
    5. Van Eyk, JE; Murphy, AM
      The role of troponin abnormalities as a cause for stunned myocardium

      CORONARY ARTERY DISEASE
    6. Freeman, K; Nakao, K; Leinwand, LA
      Low sequence variation in the gene encoding the human beta-myosin heavy chain

      GENOMICS
    7. Sebillon, P; Bonne, G; Flavigny, J; Venin, S; Rouche, A; Fiszman, M; Vikstrom, K; Leinwand, L; Carrier, L; Schwartz, K
      COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization

      COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES
    8. Usyk, TP; Omens, JH; McCulloch, AD
      Regional septal dysfunction in a three-dimensional computational model of focal myofiber disarray

      AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
    9. Harrap, SB; Petrou, S
      Utility of genetic approaches to common cardiovascular diseases

      AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
    10. Chandra, M; Rundell, VLM; Tardiff, JC; Leinwand, LA; De Tombe, PP; Solaro, RJ
      Ca2+ activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T

      AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
    11. Leu, M; Ehler, E; Perriard, JC
      Characterisation of postnatal growth of the murine heart

      ANATOMY AND EMBRYOLOGY
    12. Mitra, S; Timur, AA; Gupta, S; Wang, Q; Sen, S
      Assignment of myotrophin to human chromosome band 7q33 -> q35 by in situ hybridization

      CYTOGENETICS AND CELL GENETICS
    13. Dalloz, F; Osinska, H; Robbins, J
      Genetically modified animal models in cardiovascular research

      REVISTA ESPANOLA DE CARDIOLOGIA
    14. Bruneau, BG; Bao, ZZ; Fatkin, D; Xavier-Neto, J; Georgakopoulos, D; Maguire, CT; Berul, CI; Kass, DA; Kuroski-de Bold, ML; de Bold, AJ; Conner, DA; Rosenthal, N; Cepko, CL; Seidman, CE; Seidman, JG
      Cardiomyopathy in Irx4-deficient mice is preceded by abnormal ventricular gene expression

      MOLECULAR AND CELLULAR BIOLOGY
    15. Vigoreaux, JO
      Genetics of the Drosophila flight muscle myofibril: a window into the biology of complex systems

      BIOESSAYS
    16. Arnett, DK; Devereux, RB; Kitzman, D; Oberman, A; Hopkins, P; Atwood, L; Dewan, A; Rao, DC
      Linkage of left ventricular contractility to chromosome 11 in humans - TheHyperGEN study

      HYPERTENSION
    17. Fujino, N; Shimizu, M; Ino, H; Okeie, K; Yamaguchi, M; Yasuda, T; Kokado, H; Mabuchi, H
      Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy

      CLINICAL CARDIOLOGY
    18. Perry, SV
      Vertebrate tropomyosin: distribution, properties and function

      JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
    19. Franz, WM; Muller, OJ; Katus, HA
      Cardiomyopathies: from genetics to the prospect of treatment

      LANCET
    20. Seidman, JG; Seidman, C
      The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

      CELL
    21. Aharinejad, S; Schafer, R; Hofbauer, R; Abraham, D; Blumer, R; Miksovsky, A; Traxler, H; Pullirsch, D; Alexandrowicz, R; Taghavi, S; Kocher, A; Laufer, G
      Impact of cardiac transplantation on molecular pathology of ET-1, VEGF-C, and mitochondrial metabolism and morphology in dilated versus ischemic cardiomyopathic patients

      TRANSPLANTATION
    22. Meneton, P; Bloch-Faure, M; Hagege, AA; Ruetten, H; Huang, W; Bergaya, S; Ceiler, D; Gehring, D; Martins, I; Salmon, G; Boulanger, CM; Nussberger, J; Crozatier, B; Gasc, JM; Heudes, D; Bruneval, P; Doetschman, T; Menard, J; Alhenc-Gelas, F
      Cardiovascular abnormalities with normal blood pressure in tissue kallikrein-deficient mice

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    23. Montgomery, DE; Tardiff, JC; Chandra, M
      Cardiac troponin T mutations: correlation between the type of mutation andthe nature of myofilament dysfunction in transgenic mice

      JOURNAL OF PHYSIOLOGY-LONDON
    24. Winegrad, S
      Gene mutation in cardiac myosin binding protein C

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    25. Yang, QL; Osinska, H; Klevitsky, R; Robbins, J
      Phenotypic deficits in mice expressing a myosin binding protein C lacking the titin and myosin binding domains

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    26. Olson, TM; Kishimoto, NY; Whitby, FG; Michels, VV
      Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    27. Prabhakar, R; Boivin, GP; Grupp, IL; Hoit, B; Arteaga, G; Solaro, RJ; Wieczorek, DF
      A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    28. Dalloz, F; Osinska, H; Robbins, J
      Manipulating the contractile apparatus: Genetically defined animal models of cardiovascular disease

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    29. Greber-Platzer, S; Marx, M; Fleischmann, C; Suppan, C; Dobner, M; Wimmer, M
      Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    30. Ehler, E; Horowits, R; Zuppinger, C; Price, RL; Perriard, E; Leu, M; Caroni, P; Sussman, M; Eppenberger, HM; Perriard, JC
      Alterations at the intercalated disk associated with the absence of muscleLIM protein

      JOURNAL OF CELL BIOLOGY
    31. Witt, CC; Gerull, B; Davies, MJ; Centner, T; Linke, WA; Thierfelder, L
      Hypercontractile properties of cardiac muscle fibers in a knock-in mouse model of cardiac myosin-binding protein-C

      JOURNAL OF BIOLOGICAL CHEMISTRY
    32. Sanbe, A; Gulick, J; Fewell, J; Robbins, J
      Examining the in vivo role of the amino terminus of the essential myosin light chain

      JOURNAL OF BIOLOGICAL CHEMISTRY
    33. Burhop, J; Rosol, M; Craig, R; Tobacman, LS; Lehman, W
      Effects of a cardiomyopathy-causing troponin T mutation on thin filament function and structure

      JOURNAL OF BIOLOGICAL CHEMISTRY
    34. Takebayashi-Suzuki, K; Pauliks, LB; Eltsefon, Y; Mikawa, T
      Purkinje fibers of the avian heart express a myogenic transcription factorprogram distinct from cardiac and skeletal muscle

      DEVELOPMENTAL BIOLOGY
    35. Berul, CI; McConnell, RK; Wakimoto, H; Moskowitz, IPG; Maguire, CT; Semsarian, C; Vargas, MM; Gehrmann, J; Seidman, CE; Seidman, JG
      Ventricular arrhythmia vulnerability in cardiomyopathic mice with homozygous mutant myosin-binding protein C gene

      CIRCULATION
    36. Nebigil, CG; Hickel, P; Messaddeq, N; Vonesch, JL; Douchet, MP; Monassier, L; Gyorgy, K; Matz, R; Andriantsitohaina, R; Manivet, P; Launay, JM; Maroteaux, L
      Ablation of serotonin 5-HT2B receptors in mice leads to abnormal cardiac structure and function

      CIRCULATION
    37. Spooner, PM; Albert, C; Benjamin, EJ; Boineau, R; Elston, RC; George, AL; Jouven, X; Kuller, LH; MacCluer, JW; Marban, E; Muller, JE; Schwartz, PJ; Siscovick, DS; Tracy, RP; Zareba, W; Zipes, DP
      Sudden cardiac death, genes, and arrhythmogenesis - Consideration of new population and mechanistic approaches from a national heart, lung, and bloodinstitute workshop, part I

      CIRCULATION
    38. Yang, QL; Hewett, TE; Klevitsky, R; Sanbe, A; Wang, XJ; Robbins, J
      PKA-dependent phosphorylation of cardiac myosin binding protein C in transgenic mice

      CARDIOVASCULAR RESEARCH
    39. Myerburg, RJ; Spooner, PM
      Opportunities for sudden death prevention: Directions for new clinical andbasic research

      CARDIOVASCULAR RESEARCH
    40. Marin-Garcia, J; Goldenthal, MJ; Moe, GW
      Mitochondrial pathology in cardiac failure

      CARDIOVASCULAR RESEARCH
    41. Palm, T; Graboski, S; Hitchcock-DeGregori, SE; Greenfield, NJ
      Disease-causing mutations in cardiac troponin T: Identification of a critical tropomyosin-binding region

      BIOPHYSICAL JOURNAL
    42. Brown, LJ; Klonis, N; Sawyer, WH; Fajer, PG; Hambly, BD
      Independent movement of the regulatory and catalytic domains of myosin heads revealed by phosphorescence anisotropy

      BIOCHEMISTRY
    43. Barrans, JD; Stamatiou, D; Liew, CC
      Construction of a human cardiovascular cDNA microarray: Portrait of the failing heart

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    44. Nicol, RL; Frey, N; Olson, EN
      From the sarcomere to the nucleus: Role of genetics and signaling in structural heart disease

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    45. Topol, EJ
      Cardiology in the 21st century

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    46. Frey, N; McKinsey, TA; Olson, EN
      Decoding calcium signals involved in cardiac growth and function

      NATURE MEDICINE
    47. Shah, G; Roberts, R
      Molecular genetics of cardiomyopathies

      JOURNAL OF NUCLEAR CARDIOLOGY
    48. Allen, DL; Harrison, BC; Leinwand, LA
      Inactivation of myosin heavy chain genes in the mouse: Diverse and unexpected phenotypes

      MICROSCOPY RESEARCH AND TECHNIQUE
    49. Morkin, E
      Control of cardiac myosin heavy chain gene expression

      MICROSCOPY RESEARCH AND TECHNIQUE
    50. Meurs, KM; Fox, PR; Magnon, AL; Liu, SK; Towbin, JA
      Molecular screening by polymerase chain reaction detects panleukopenia virus DNA in formalin-fixed hearts from cats with idiopathic cardiomyopathy and myocarditis

      CARDIOVASCULAR PATHOLOGY
    51. Ferrus, A; Acebes, A; Marin, MC; Hernandez-Hernandez, A
      A genetic approach to detect muscle protein interactions in vivo

      TRENDS IN CARDIOVASCULAR MEDICINE
    52. Saba, S; Wang, PJ; Estes, NAM
      Invasive cardiac electrophysiology in the mouse: Techniques and applications

      TRENDS IN CARDIOVASCULAR MEDICINE
    53. Gehrmann, J; Berul, CI
      Cardiac electrophysiology in genetically engineered mice

      JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY
    54. Gregorio, CC; Antin, PB
      To the heart of myofibril assembly

      TRENDS IN CELL BIOLOGY
    55. Takebayashi-Suzuki, K; Yanagisawa, M; Gourdie, RG; Kanzawa, N; Mikawa, T
      In vivo induction of cardiac Purkinje fiber differentiation by coexpression of preproendothelin-1 and endothelin converting enzyme-1

      DEVELOPMENT
    56. Michele, DE; Metzger, JM
      Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies

      JOURNAL OF MOLECULAR MEDICINE-JMM
    57. Alizad, A; Seward, JB
      Echocardiographic features of genetic diseases: Part 1. Cardiomyopathy

      JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
    58. Roberts, R
      A perspective: The new millennium dawns on a new paradigm for cardiology -Molecular genetics

      JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
    59. Wendel, B; Reinhard, R; Wachtendorf, U; Zacharzowsky, UB; Osterziel, KJ; Schulte, HD; Haase, H; Hoehe, MR; Morano, I
      The human beta-myosin heavy chain gene: Sequence diversity and functional characteristics of the protein

      JOURNAL OF CELLULAR BIOCHEMISTRY
    60. Rao, S; Verkman, AS
      Analysis of organ physiology in transgenic mice

      AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
    61. Karlon, WJ; McCulloch, AD; Covell, JW; Hunter, JJ; Omens, JH
      Regional dysfunction correlates with myofiber disarray in transgenic mice with ventricular expression of ras

      AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
    62. Tardiff, JC; Hewett, TE; Factor, SM; Vikstrom, KL; Robbins, J; Leinwand, LA
      Expression of the beta (slow)-isoform of MHC in the adult mouse heart causes dominant-negative functional effects

      AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY
    63. Bowles, NE; Bowles, KR; Towbin, JA
      The "final common pathway" hypothesis and inherited cardiovascular disease- The role of cytoskeletal proteins in dilated cardiomyopathy

      HERZ
    64. Macrae, CA
      Genetics and dilated cardiomyopathy: limitations of candidate gene strategies

      EUROPEAN HEART JOURNAL
    65. Roberts, R; Brugada, R
      Genetic aspects of arrhythmias

      AMERICAN JOURNAL OF MEDICAL GENETICS
    66. Shrager, JB; Desjardins, PR; Burkman, JM; Konig, SK; Stewart, DR; Su, L; Shah, MC; Bricklin, E; Tewari, M; Hoffman, R; Rickels, MR; Jullian, EH; Rubinstein, NA; Stedman, HH
      Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-IIb-perinatal-extraocular

      JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
    67. Canepari, M; Rossi, R; Pellegrino, MA; Bottinelli, R; Schiaffino, S; Reggiani, C
      Functional diversity between orthologous myosins with minimal sequence diversity

      JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
    68. Robbins, J
      Remodeling the cardiac sarcomere using transgenesis

      ANNUAL REVIEW OF PHYSIOLOGY
    69. Murphy, AM; Kogler, H; Georgakopoulos, D; McDonough, JL; Kass, DA; Van Eyk, JE; Marban, E
      Transgenic mouse model of stunned myocardium

      SCIENCE
    70. Gordon, AM; Homsher, E; Regnier, M
      Regulation of contraction in striated muscle

      PHYSIOLOGICAL REVIEWS
    71. Martinsson, T; Oldfors, A; Darin, N; Berg, K; Tajsharghi, H; Kyllerman, M; Wahlstrom, J
      Autosomal dominant myopathy: Missense mutation (Glu-706 -> Lys) in the myosin heavy chain IIa gene

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    72. Kapelko, VI
      Myocardial extracellular matrix and its changes in heart diseases

      KARDIOLOGIYA
    73. Bing, W; Knott, A; Redwood, C; Esposito, G; Purcell, I; Watkins, H; Marston, S
      Effect of hypertrophic cardiomyopathy mutations in human cardiac muscle alpha-tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    74. Richard, P; Charron, P; Leclercq, C; Ledeuil, C; Carrier, L; Dubourg, O; Desnos, M; Bouhour, JB; Schwartz, K; Daubert, JC; Komajda, M; Hainque, B
      Homozygotes for a R869G mutation in the beta-myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    75. Morner, S; Richard, P; Kazzam, E; Hainque, B; Schwartz, K; Waldenstrom, A
      Deletion in the cardiac troponin I gene in a family from northern Sweden with hypertrophic cardiomyopathy

      JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
    76. Moolman-Smook, J; De Lange, W; Corfield, V; Brink, P
      Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation

      JOURNAL OF MEDICAL GENETICS
    77. Frey, N; Olson, EN
      Making matters worse for a broken heart

      JOURNAL OF CLINICAL INVESTIGATION
    78. Uren, D; Hwang, HK; Hara, Y; Takeda, K; Kawamoto, S; Tullio, AN; Yu, ZX; Ferrans, VJ; Tresser, N; Grinberg, A; Preston, YA; Adelstein, RS
      Gene dosage affects the cardiac and brain phenotype in nonmuscle myosin II-B-depleted mice

      JOURNAL OF CLINICAL INVESTIGATION
    79. van der Ven, PFM; Bartsch, JW; Gautel, M; Jockusch, H; Furst, DO
      A functional knock-out of titin results in defective myofibril assembly

      JOURNAL OF CELL SCIENCE
    80. Takahashi-Yanaga, F; Morimoto, S; Ohtsuki, I
      Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils

      JOURNAL OF BIOCHEMISTRY
    81. Harada, K; Takahashi-Yanaga, F; Minakami, R; Morimoto, S; Ohtsuki, I
      Functional consequences of the deletion mutation Delta Glu160 in human cardiac troponin T

      JOURNAL OF BIOCHEMISTRY
    82. Ferrari, P; Bianchi, G
      The genomics of cardiovascular disorders - Therapeutic implications

      DRUGS
    83. Abraham, D; Hofbauer, R; Schafer, R; Blumer, R; Paulus, P; Miksovsky, A; Traxler, H; Kocher, A; Aharinejad, S
      Selective downregulation of VEGF-A(165), VEGF-R-1, and decreased capillarydensity in patients with dilative but not ischemic cardiomyopathy

      CIRCULATION RESEARCH
    84. Tyska, MJ; Hayes, E; Giewat, M; Seidman, CE; Seidman, JG; Warshaw, DM
      Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy

      CIRCULATION RESEARCH
    85. Miyata, S; Minobe, W; Bristow, MR; Leinwand, LA
      Myosin heavy chain isoform expression in the failing and nonfailing human heart

      CIRCULATION RESEARCH
    86. Redwood, C; Lohmann, K; Bing, W; Esposito, GM; Elliott, K; Abdulrazzak, H; Knott, A; Purcell, I; Marston, S; Watkins, H
      Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy - Ca2+ regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein

      CIRCULATION RESEARCH
    87. Winegrad, S
      Myosin binding protein C, a potential regulator of cardiac contractility

      CIRCULATION RESEARCH
    88. Kunst, G; Kress, KR; Gruen, M; Uttenweiler, D; Gautel, M; Fink, RHA
      Myosin binding protein C, a phosphorylation-dependent force regulator in muscle that controls the attachment of myosin heads by its interaction with myosin S2

      CIRCULATION RESEARCH
    89. Roberts, R; Schwartz, K
      Myocardial diseases

      CIRCULATION
    90. Milewicz, DM; Seidman, CE
      Genetics of cardiovascular disease

      CIRCULATION
    91. James, J; Sanbe, A; Yager, K; Martin, L; Klevitsky, R; Robbins, J
      Genetic manipulation of the rabbit heart via transgenesis

      CIRCULATION
    92. Frey, N; Franz, WM; Gloeckner, K; Degenhardt, M; Muller, M; Muller, O; Merz, H; Katus, HA
      Transgenic rat hearts expressing a human cardiac troponin T deletion reveal diastolic dysfunction and ventricular arrhythmias

      CARDIOVASCULAR RESEARCH
    93. Lin, TL; Ichihara, S; Yamada, Y; Nagasaka, T; Ishihara, H; Nakashima, N; Yokota, M
      Phenotypic variation of familial hypertrophic: cardiomyopathy caused by the Phe110 -> IIe mutation in cardiac troponin T

      CARDIOLOGY
    94. Wang, F; Harvey, EV; Conti, MA; Wei, DF; Sellers, JR
      A conserved negatively charged amino acid modulates function in human nonmuscle myosin IIA

      BIOCHEMISTRY
    95. Pinson, S; Guichard, C; Lenoir, D; El Zein, L; Nizard, P; Bozio, A; Bouvagnet, P
      Cardiogenetics in year 2000.

      ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX
    96. Brugada, R
      Role of molecular biology in identifying individuals at risk for sudden cardiac death

      AMERICAN JOURNAL OF CARDIOLOGY
    97. Komajda, M; Charron, P; Tesson, F
      Genetic aspects of heart failure

      EUROPEAN JOURNAL OF HEART FAILURE
    98. VanderBrink, BA; Link, MS; Aronovitz, MJ; Saba, S; Sloan, SB; Homoud, MK; Estes, NA; Wang, PJ
      Assessment of atrioventricular nodal physiology in the mouse

      JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY
    99. Dutka, DP; Donnelly, JE; Nihoyannopoulos, P; Oakley, CM; Nunez, DJ
      Marked variation in the cardiomyopathy associated with Friedreich's ataxia

      HEART
    100. Laing, NG
      Inherited disorders of sarcomeric proteins

      CURRENT OPINION IN NEUROLOGY


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Documento generato il 29/05/20 alle ore 18:31:47