当前位置： SCI文献检索 > JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY期刊下所有文献 > Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

Abstract：

:Familial hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy with an autosomal dominant pattern of inheritance. The disease bearing genes for HCM in HCM families have been identified as beta-myosin heavy chain, alpha-tropomyosin, cardiac troponin T (cTnT) and myosin binding protein-C genes. In the present study, we searched for the mutations in the cTnT gene in Japanese HCM patients. Single-strand conformation polymorphism gel analysis of polymerase chain reaction-amplified product was used to search for the mutations in the exons 8, 9 and 15 of the cTnT gene from 60 familial HCM patients. Clinical studies of the family members were performed and the incidence of sudden or disease-related deaths within the family was also examined. We have identified a novel missense mutation in exon 9 (Ala104Val) of the cTnT gene in a patient with familial HCM. Because the missense mutation was found at the residue conserved through chicken to humans and was not detected in the more than 50 normal controls, it was suggested that this missense mutation is the cause of HCM in this family. Although the affected family members presented moderate hypertrophy of the left ventricular wall, they were symptomatic and there was a high incidence of sudden death in her family members. Among Japanese patients with familial HCM, a novel missense mutation (Ala104Val) in the cTnT gene was identified. Familial HCM is genetically heterogeneous in Japanese HCM patients as observed in Caucasian kindreds. The disease in the kindred was severe and there was a high incidence of sudden or disease-related deaths in the kindred with this mutation.

journal_name

J Mol Cell Cardiol

journal_title

Journal of molecular and cellular cardiology

authors

Nakajima-Taniguchi C,Matsui H,Fujio Y,Nagata S,Kishimoto T,Yamauchi-Takihara K

doi

10.1006/jmcc.1996.0322

subject

Has Abstract

pub_date

1997-02-01 00:00:00

pages

839-43

issue

2

eissn

0022-2828

issn

1095-8584

pii

S0022-2828(96)90322-3

journal_volume

29

pub_type

杂志文章

相关文献

JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY文献大全
  • A crosstalk between chromatin remodeling and histone H3K4 methyltransferase complexes in endothelial cells regulates angiotensin II-induced cardiac hypertrophy.

    abstract：:Angiotensin II (Ang II) induces cardiac hypertrophy and fibrosis in part by stimulating endothelin (ET-1) transcription. The involvement of the epigenetic machinery in this process is largely undefined. In the present study, we examined the epigenetic maneuvering underlying cardiac hypertrophy and fibrosis following E...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2015.02.010

    authors： Weng X,Yu L,Liang P,Li L,Dai X,Zhou B,Wu X,Xu H,Fang M,Chen Q,Xu Y

    更新日期：2015-05-01 00:00:00

  • Microtubules mobility affects the modulation of L-type I(Ca) by muscarinic and beta-adrenergic agonists in guinea-pig cardiac myocytes.

    abstract：:To investigate the interaction of cytoskeleton with the receptor modulation of ionic currents, we studied the effect of muscarinic and beta-adrenergic stimulation in adult guinea-pig ventricular cardiac myocytes treated with paclitaxel and colchicine, two drugs that respectively stabilize or destabilize microtubules. ...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(02)00312-7

    authors： Malan D,Gallo MP,Bedendi I,Biasin C,Levi RC,Alloatti G

    更新日期：2003-02-01 00:00:00

  • Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

    abstract：:Mutations causing familial hypertrophic cardiomyopathy (HCM) have been described in at least 11 genes encoding cardiac sarcomeric proteins. In this study, three previously unknown deletions have been identified in the human cardiac genes coding for beta-myosin heavy chain (MYH7 on chromosome 14) and myosin-binding pro...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(03)00050-6

    authors： Waldmüller S,Sakthivel S,Saadi AV,Selignow C,Rakesh PG,Golubenko M,Joseph PK,Padmakumar R,Richard P,Schwartz K,Tharakan JM,Rajamanickam C,Vosberg HP

    更新日期：2003-06-01 00:00:00

  • Effects of cyclopiazonic acid on membrane currents, contraction and intracellular calcium transients in frog heart.

    abstract：:The effects of cyclopiazonic acid, a specific inhibitor of the sarcoplasmic reticulum Ca(2+)-ATPase, on membrane currents and contraction were investigated under voltage clamped conditions on frog atrial trabeculae using the double mannitol-gap technique. In ringer solution, cyclopiazonic acid (10 microM) decreased th...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.1995.0237

    authors： Badaoui A,Huchet-Cadiou C,Léoty C

    更新日期：1995-11-01 00:00:00

  • The external work-pressure time integral relationships and the afterload dependence of Frank-Starling mechanism.

    abstract：:The mechanisms underlying the Frank-Starling Law of the heart are elusive and the prevalent notion suggests that it is afterload independent. However, isolated fiber studies reveal that the afterload determines cardiac function through cross-bridge dependent mechanisms. The study explores the roles of the afterload, i...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2009.05.007

    authors： Sela G,Landesberg A

    更新日期：2009-10-01 00:00:00

  • Overexpression of G protein-coupled receptor kinase-2 in smooth muscle cells reduces neointimal hyperplasia.

    abstract：:The activation of vascular smooth muscle cells (SMCs) in neointimal hyperplasia involves signaling through receptor tyrosine kinases as well as G protein-coupled receptors. Overexpression of G protein-coupled receptor kinase-2 (GRK2) in SMCs can attenuate mitogenic signaling and proliferation in response to not only s...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.2002.2092

    authors： Peppel K,Zhang L,Huynh TT,Huang X,Jacobson A,Brian L,Exum ST,Hagen PO,Freedman NJ

    更新日期：2002-10-01 00:00:00

  • Impaired cell shortening and relengthening with increased pacing frequency are intrinsic to the senescent mouse cardiomyocyte.

    abstract：:Increased heart rate enhances cardiac contractility and accelerates relaxation. Both the force- and relaxation-frequency relationships are critical to myocardial function, especially during stress, and have been shown to be impaired in senescent myocardium. While senescent myocardium is characterized by decreased sarc...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.2000.1239

    authors： Lim CC,Apstein CS,Colucci WS,Liao R

    更新日期：2000-11-01 00:00:00

  • Regional biochemical remodeling in non-infarcted tissue of rat heart post-myocardial infarction.

    abstract：:Changes in the capacities of ATP-synthesizing reactions were analysed in residual non-infarcted myocardium following myocardial infarction. Rats were subjected to left coronary artery ligation (MI; n = 11) or to sham operation (sham; n = 18). Two months later, hearts were excised, rinsed and buffer-perfused isovolumic...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.1996.0143

    authors： Laser A,Ingwall JS,Tian R,Reis I,Hu K,Gaudron P,Ertl G,Neubauer S

    更新日期：1996-07-01 00:00:00

  • A biochemical method for the quantitation of myocardial scarring after experimental coronary artery occlusion.

    abstract：:The histologic examination and planimetric evaluation of tissue slices has been so far the only available technique for studying the extent of experimental myocardial infarcts in long-term studies; however, this approach is rather time-consuming when the sample size is large. This study describes a new biochemical met...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(86)80410-2

    authors： Chiariello M,Ambrosio G,Cappelli-Bigazzi M,Perrone-Filardi P,Brigante F,Sifola C

    更新日期：1986-03-01 00:00:00

  • AICAR-dependent AMPK activation improves scar formation in the aged heart in a murine model of reperfused myocardial infarction.

    abstract：:We have demonstrated that scar formation after myocardial infarction (MI) is associated with an endogenous pool of CD44(pos)CD45(neg) multipotential mesenchymal stem cells (MSC). MSC differentiate into fibroblasts secreting collagen that forms a scar and mature into myofibroblasts that express alpha smooth muscle acti...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2013.07.005

    authors： Cieslik KA,Taffet GE,Crawford JR,Trial J,Mejia Osuna P,Entman ML

    更新日期：2013-10-01 00:00:00

  • Increase in the expression of biglycan mRNA expression Co-localized closely with that of type I collagen mRNA in the infarct zone after experimentally-induced myocardial infarction in rats.

    abstract：:Biglycan, a small dermatan sulphate proteoglycan, has been postulated to interact with other components of the extracellular matrix (ECM), specifically collagens. We hypothesized that biglycan messenger ribonucleic acid (mRNA) is increased in the myocardial infarct zone. Biglycan mRNA expression after acute myocardial...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.1998.0737

    authors： Yamamoto K,Kusachi S,Ninomiya Y,Murakami M,Doi M,Takeda K,Shinji T,Higashi T,Koide N,Tsuji T

    更新日期：1998-09-01 00:00:00

  • The roadmap of WT1 protein expression in the human fetal heart.

    abstract：:The transcription factor Wilms' Tumor-1 (WT1) is essential for cardiac development. Deletion of Wt1 in mice results in disturbed epicardial and myocardial formation and lack of cardiac vasculature, causing embryonic lethality. Little is known about the role of WT1 in the human fetal heart. Therefore, as a first step, ...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2015.12.008

    authors： Duim SN,Smits AM,Kruithof BP,Goumans MJ

    更新日期：2016-01-01 00:00:00

  • Implications of the complex biology and micro-environment of cardiac sarcomeres in the use of high affinity troponin antibodies as serum biomarkers for cardiac disorders.

    abstract：:Cardiac troponin I (cTnI), the inhibitory-unit, and cardiac troponin T (cTnT), the tropomyosin-binding unit together with the Ca-binding unit (cTnC) of the hetero-trimeric troponin complex signal activation of the sarcomeres of the adult cardiac myocyte. The unique structure and heart myocyte restricted expression of ...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章,评审

    doi：10.1016/j.yjmcc.2020.05.010

    authors： Solaro CR,Solaro RJ

    更新日期：2020-06-01 00:00:00

  • Lidocaine blocks Na, Ca and K currents of chick ventricular myocytes.

    abstract：:In addition to the well-known reduction in the maximal rate of rise the antiarrhythmic agent, lidocaine, also produces a shortening in the duration of the normal ventricular action potential. The voltage-dependent currents carried by Na, Ca and K ions were examined in the absence and presence of lidocaine, in order to...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(88)80117-2

    authors： Josephson IR

    更新日期：1988-07-01 00:00:00

  • Short-term caloric restriction improves ischemic tolerance independent of opening of ATP-sensitive K+ channels in both young and aged hearts.

    abstract：:Ischemic tolerance decreases with aging and the cardioprotective effect of ischemic preconditioning (IPC) is impaired in aged animals. Although lifelong caloric restriction (CR) profoundly affects the physiological and pathophysiological modifications induced by aging and markedly increases life span in several specie...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2005.03.010

    authors： Shinmura K,Tamaki K,Bolli R

    更新日期：2005-08-01 00:00:00

  • Heart mitochondria contain functional ATP-dependent K+ channels.

    abstract：:Recent observations challenged the functional importance or even the existence of mitochondrial ATP-dependent K+ (mitoK(ATP)) channels. In the present study, we determined the presence of K(ATP)-channel subunits in mouse heart mitochondria, and investigated whether known openers or blockers of the channel can alter mi...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(03)00249-9

    authors： Lacza Z,Snipes JA,Miller AW,Szabó C,Grover G,Busija DW

    更新日期：2003-11-01 00:00:00

  • Molecular architecture of the human specialised atrioventricular conduction axis.

    abstract：:The atrioventricular conduction axis, located in the septal component of the atrioventricular junctions, is arguably the most complex structure in the heart. It fulfils a multitude of functions, including the introduction of a delay between atrial and ventricular systole and backup pacemaking. Like any other multifunc...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2010.12.017

    authors： Greener ID,Monfredi O,Inada S,Chandler NJ,Tellez JO,Atkinson A,Taube MA,Billeter R,Anderson RH,Efimov IR,Molenaar P,Sigg DC,Sharma V,Boyett MR,Dobrzynski H

    更新日期：2011-04-01 00:00:00

  • Effect of alpha-tocopherol on high energy phosphate metabolite levels in rat heart by 31P-NMR using a Langendorff perfusion technique.

    abstract：:To examine the action of alpha-tocopherol on high energy phosphate compounds, a 31P-NMR technique was applied to perfused Langendorff rat hearts. Rats were treated with tocopherol acetate (25 mg/kg body wt i.p.) for 7 consecutive days. On the 7th day, the rat hearts were isolated for the Langendorff experiment. After ...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.1993.1119

    authors： Kotegawa M,Sugiyama M,Shoji T,Haramaki N,Ogura R

    更新日期：1993-09-01 00:00:00

  • Gene signatures of postoperative atrial fibrillation in atrial tissue after coronary artery bypass grafting surgery in patients receiving β-blockers.

    abstract：:Atrial tissue gene expression profiling may help to determine how differentially expressed genes in the human atrium before cardiopulmonary bypass (CPB) are related to subsequent biologic pathway activation patterns, and whether specific expression profiles are associated with an increased risk for postoperative atria...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2016.02.006

    authors： Kertai MD,Qi W,Li YJ,Lombard FW,Liu Y,Smith MP,Stafford-Smith M,Newman MF,Milano CA,Mathew JP,Podgoreanu MV,Duke Perioperative Genetics and Safety Outcomes (PEGASUS) Investigative Team.

    更新日期：2016-03-01 00:00:00

  • Autoantibodies from mothers of children with congenital heart block downregulate cardiac L-type Ca channels.

    abstract：:Congenital heart block (CHB) affects offspring of mothers with autoantibodies (positive IgG) to intracellular SSA/Ro and SSB/La ribonucleoproteins and is associated with high morbidity and mortality. Here, we show that maternal anti-Ro/La antibodies immunoreact with human fetal cardiomyocyte sarcolemma, recognize huma...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.2001.1379

    authors： Qu Y,Xiao GQ,Chen L,Boutjdir M

    更新日期：2001-06-01 00:00:00

  • Premature death and age-related cardiac dysfunction in male eNOS-knockout mice.

    abstract：:The aims of our study were to determine mortality, and age- and genotype-related cardiac phenotype in endothelial nitric oxide synthase (NOS) knockout (-/-) and wild-type (+/+) mice. Male and female (-/-) and male and female (+/+) conscious mice were studied at different ages by echocardiography and tail-cuff blood pr...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2004.05.005

    authors： Li W,Mital S,Ojaimi C,Csiszar A,Kaley G,Hintze TH

    更新日期：2004-09-01 00:00:00

  • Toll-like receptor 4 activation promotes cardiac arrhythmias by decreasing the transient outward potassium current (Ito) through an IRF3-dependent and MyD88-independent pathway.

    abstract：:Cardiac arrhythmias are one of the main causes of death worldwide. Several studies have shown that inflammation plays a key role in different cardiac diseases and Toll-like receptors (TLRs) seem to be involved in cardiac complications. In the present study, we investigated whether the activation of TLR4 induces cardia...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2014.08.012

    authors： Monnerat-Cahli G,Alonso H,Gallego M,Alarcón ML,Bassani RA,Casis O,Medei E

    更新日期：2014-11-01 00:00:00

  • Distribution of the neuropeptide galanin in the cat heart and coexistence with vasoactive intestinal peptide, substance P and neuropeptide Y.

    abstract：:The neuropeptide galanin (GAL) has been detected in the peripheral and central nervous systems. However, little is known about its distribution and localization in heart, and the possible coexistence of GAL with other neuropeptides in the heart is not established. The present immunocytochemical study describes the dis...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/0022-2828(92)91157-z

    authors： Zhu W,Dey RD

    更新日期：1992-01-01 00:00:00

  • The role of E2F-1 and downstream target genes in mediating ischemia/reperfusion injury in vivo.

    abstract：:E2Fs are a family of transcription factors that regulate proliferation, differentiation and apoptosis in many cell types. E2F-1 is the prototypical E2F and the family member that has most often been implicated in also mediating apoptosis. To better understand the role of E2F-1 in mediating cardiomyocyte injury we init...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2011.09.012

    authors： Angelis E,Zhao P,Zhang R,Goldhaber JI,Maclellan WR

    更新日期：2011-12-01 00:00:00

  • Effect of isoproterenol on force transient time course and on stiffness spectra in rabbit papillary muscle in barium contracture.

    abstract：:To determine whether catecholamines produce alterations in myocardial myosin-actin cycling kinetics, we investigated the effects of isoproterenol upon mechanical characteristics of constantly activated heart muscle thought to reflect crossbridge behavior. In isolated rabbit right ventricular papillary muscles in bariu...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(88)80133-0

    authors： Berman MR,Peterson JN,Yue DT,Hunter WC

    更新日期：1988-05-01 00:00:00

  • Role of lipid rafts in ceramide and nitric oxide signaling in the ischemic and preconditioned hearts.

    abstract：:Nitric oxide plays a crucial role in myocardial ischemia reperfusion injury as well as in myocardial adaptation to ischemic stress. To understand the dichotomy of nitric oxide behavior in the ischemic myocardium, isolated rat hearts were subjected to ischemia/reperfusion protocol. The tissue contents of sphingomyelin ...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/j.yjmcc.2005.10.005

    authors： Der P,Cui J,Das DK

    更新日期：2006-02-01 00:00:00

  • Changes in thyroid state affect pHi and Nai+ homeostasis in rat ventricular myocytes.

    abstract：:We have tested the hypothesis that thyroid state may influence both the flow of cellular Ca2+ and the myofilament response to Ca2+ by effects on intracellular pH (pHi) and Na+ (Nai+). Single cardiac myocytes isolated from hypothyroid, euthyroid and hyperthyroid animals were loaded with fura-2/AM (Cai2+ probe), BCECF/A...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.1997.0495

    authors： Wolska BM,Averyhart-Fullard V,Omachi A,Stojanović MO,Kallen RG,Solaro RJ

    更新日期：1997-10-01 00:00:00

  • The calcium paradox phenomenon: a flow rate and volume response study of calcium-free perfusion.

    abstract：:A dose-response study concerning the importance of the flow rate (0.5 to 12 ml/min) and volume (2.5 to 60 ml) of calcium-free coronary perfusion (duration 5 min) in the induction of a calcium paradox on reperfusion (duration 15 min) with calcium-containing medium has been performed in the isolated rat heart (37 degree...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(85)80076-6

    authors： Oksendal AN,Jynge P,Sellevold OF,Rotevatn S,Saetersdal T

    更新日期：1985-10-01 00:00:00

  • Age-related decrease in cardiac tolerance to oxidative stress.

    abstract：:Oxygen radical-mediated injury has been implicated in the process of cardiac aging. We investigated the tolerance to oxidative stress of hearts from rats of different age. Langendorff-perfused hearts from 3-12-month-old rats received a 30 min infusion of the reactive oxygen specie hydrogen peroxide (H2O2, 60 microM), ...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1006/jmcc.1998.0862

    authors： Abete P,Napoli C,Santoro G,Ferrara N,Tritto I,Chiariello M,Rengo F,Ambrosio G

    更新日期：1999-01-01 00:00:00

  • Effects of endurance training on cholinergic and adrenergic receptors of rat heart.

    abstract：:To test the hypothesis that alterations in adrenergic or cholinergic receptors occur in response to physical training, and that changes in receptor properties could be mechanistically important in producting the altered cardiovascular physiology of the trained state, we studied the effects of endurance training by swi...

    journal_title：Journal of molecular and cellular cardiology

    pub_type： 杂志文章

    doi：10.1016/s0022-2828(84)80611-2

    authors： Williams RS,Schaible TF,Bishop T,Morey M

    更新日期：1984-05-01 00:00:00