当前位置： SCI文献检索 > Scientific Reports期刊下所有文献 > High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.

Abstract：

:Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two young females carrying a TGFβR2 mutation, initially diagnosed as Marfan syndrome or Loeys Dietz syndrome, presented sudden death with autopsy ruling out dissection. The ECGs of the 2 Sudden Cardiac Deaths revealed profound ventricular repolarization abnormalities with a sinusoidal T-U morphology associated with normal left ventricular ejection fraction. These data strongly suggest sudden cardiac arrhythmic deaths and prompted us to systematically study the repolarization pattern in the patients with TGFβR2 mutations. ECG findings from 58 mutation carriers patients (TGFβR2 group) were compared with those of 46 non-affected first degree relatives (control group). TGFβR2 mutation was associated with ventricular repolarization abnormalities in 47% of patients (p < 0.001 vs. controls), including a 19.6 ms (95%CI 8.7; 30.5) QTc interval prolongation compared to the non-affected first degree relatives (p < 0.001), higher prevalence of abnormal U waves (16% vs. 2%), and sinusoidal T-U morphology (10% vs. 0%). TGFβR2 mutations can be associated with abnormal ventricular repolarization pattern, longer QT interval than non-carrier relatives and an increased risk for sudden death.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Extramiana F,Milleron O,Elbitar S,Uccellini A,Langeois M,Spentchian M,Delorme G,Arnoult F,Denjoy I,Bouleti C,Fressart V,Iserin F,Maison-Blanche P,Abifadel M,Leenhardt A,Boileau C,Jondeau G

doi

10.1038/s41598-018-31298-5

subject

Has Abstract

pub_date

2018-08-29 00:00:00

pages

13019

issue

1

issn

2045-2322

pii

10.1038/s41598-018-31298-5

journal_volume

8

pub_type

杂志文章

相关文献

Scientific Reports文献大全
  • In-situ detection based on the biofilm hydrophilicity for environmental biofilm formation.

    abstract：:A biofilm has a unique structure composed of microorganisms, extracellular polymeric substances (EPSs), etc., and it is layered on a substrate in water. In material science, it is important to detect the biofilm formed on a surface to prevent biofouling. EPSs, the major component of the biofilm, mainly consist of poly...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-44167-6

    authors： Tanaka N,Kogo T,Hirai N,Ogawa A,Kanematsu H,Takahara J,Awazu A,Fujita N,Haruzono Y,Ichida S,Tanaka Y

    更新日期：2019-05-30 00:00:00

  • Maintaining physical activity during refeeding improves body composition, intestinal hyperpermeability and behavior in anorectic mice.

    abstract：:A role of gut-brain axis emerges in the pathophysiology of anorexia nervosa and maintaining adapted physical activity during refeeding remains discussed. We aimed to assess gastrointestinal protein metabolism and investigate the contribution of physical activity during refeeding in C57BL/6 mice with activity-based ano...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep21887

    authors： Achamrah N,Nobis S,Breton J,Jésus P,Belmonte L,Maurer B,Legrand R,Bôle-Feysot C,do Rego JL,Goichon A,Rego JC,Déchelotte P,Fetissov SO,Claeyssens S,Coëffier M

    更新日期：2016-02-24 00:00:00

  • Air-like plasmonics with ultralow-refractive-index silica aerogels.

    abstract：:The coupling of the surface plasmon near-field into the sensing medium is key to the sensitivity of surface plasmon-based sensing devices. A low-index dielectric is necessary for the sensing medium to support a highly-penetrating surface plasmon evanescent field that extends well into the dielectric medium. The air-li...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-38859-2

    authors： Kim Y,Baek S,Gupta P,Kim C,Chang K,Ryu SP,Kang H,Kim WS,Myoung J,Park W,Kim K

    更新日期：2019-02-19 00:00:00

  • High-resolution dynamic inversion imaging with motion-aberrations-free using optical flow learning networks.

    abstract：:Dynamic optical imaging (e.g. time delay integration imaging) is troubled by the motion blur fundamentally arising from mismatching between photo-induced charge transfer and optical image movements. Motion aberrations from the forward dynamic imaging link impede the acquiring of high-quality images. Here, we propose a...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-47564-z

    authors： Li J,Liu Z

    更新日期：2019-08-05 00:00:00

  • PANDA: Protein function prediction using domain architecture and affinity propagation.

    abstract：:We developed PANDA (Propagation of Affinity and Domain Architecture) to predict protein functions in the format of Gene Ontology (GO) terms. PANDA at first executes profile-profile alignment algorithm to search against PfamA, KOG, COG, and SwissProt databases, and then launches PSI-BLAST against UniProt for homologue ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-21849-1

    authors： Wang Z,Zhao C,Wang Y,Sun Z,Wang N

    更新日期：2018-02-22 00:00:00

  • Development of fully automated and ultrasensitive assays for urinary adiponectin and their application as novel biomarkers for diabetic kidney disease.

    abstract：:Glomerular filtration rate (GFR) and urinary albumin excretion rate (UAER) are used to diagnose and classify the severity of chronic kidney disease. Total adiponectin (T-AN) and high molecular weight adiponectin (H-AN) assays were developed using the fully automated immunoassay system, HI-1000 and their significance o...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-72494-6

    authors： Watanabe T,Fujimoto Y,Morimoto A,Nishiyama M,Kawai A,Okada S,Aiba M,Kawano T,Kawahigashi M,Ishizu M,Mori H,Matsuhisa M,Hata A,Funaki M,Hashida S

    更新日期：2020-09-28 00:00:00

  • Triphenyltin recognition by primary structures of effector proteins and the protein network of Bacillus thuringiensis during the triphenyltin degradation process.

    abstract：:Herein, triphenyltin (TPT) biodegradation efficiency and its transformation pathway have been elucidated. To better understand the molecular mechanism of TPT degradation, the interactions between amino acids, primary structures, and quaternary conformations of effector proteins and TPT were studied. The results verifi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-04014-y

    authors： Wang L,Ye J,Ou H,Qin H,Long Y,Ke J

    更新日期：2017-06-23 00:00:00

  • Integrated transcriptomic and proteomic analyses of a molecular mechanism of radular teeth biomineralization in Cryptochiton stelleri.

    abstract：:Many species of chiton are known to deposit magnetite (Fe3O4) within the cusps of their heavily mineralized and ultrahard radular teeth. Recently, much attention has been paid to the ultrastructural design and superior mechanical properties of these radular teeth, providing a promising model for the development of nov...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-37839-2

    authors： Nemoto M,Ren D,Herrera S,Pan S,Tamura T,Inagaki K,Kisailus D

    更新日期：2019-01-29 00:00:00

  • Structure-Property-Function Relationship in Humic Substances to Explain the Biological Activity in Plants.

    abstract：:Knowledge of the structure-property-function relationship of humic substances (HSs) is key for understanding their role in soil. Despite progress, studies on this topic are still under discussion. We analyzed 37 humic fractions with respect to their isotopic composition, structural characteristics, and properties resp...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep20798

    authors： García AC,de Souza LG,Pereira MG,Castro RN,García-Mina JM,Zonta E,Lisboa FJ,Berbara RL

    更新日期：2016-02-10 00:00:00

  • Quantitative metabolic imaging using endogenous fluorescence to detect stem cell differentiation.

    abstract：:The non-invasive high-resolution spatial mapping of cell metabolism within tissues could provide substantial advancements in assessing the efficacy of stem cell therapy and understanding tissue development. Here, using two-photon excited fluorescence microscopy, we elucidate the relationships among endogenous cell flu...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep03432

    authors： Quinn KP,Sridharan GV,Hayden RS,Kaplan DL,Lee K,Georgakoudi I

    更新日期：2013-12-05 00:00:00

  • Anatomically correct visualization of the human upper airway using a high-speed long range optical coherence tomography system with an integrated positioning sensor.

    abstract：:The upper airway is a complex tissue structure that is prone to collapse. Current methods for studying airway obstruction are inadequate in safety, cost, or availability, such as CT or MRI, or only provide localized qualitative information such as flexible endoscopy. Long range optical coherence tomography (OCT) has b...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep39443

    authors： Jing JC,Chou L,Su E,Wong BJF,Chen Z

    更新日期：2016-12-19 00:00:00

  • UbasM: An effective balanced optical clearing method for intact biomedical imaging.

    abstract：:Optical clearing methods can facilitate deep optical imaging in biological tissue by reducing light scattering and this has enabled accurate three-dimensional signal visualization and quantification of complex biological structures. Unfortunately, existing optical clearing approaches present a compromise between maxim...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-12484-3

    authors： Chen L,Li G,Li Y,Li Y,Zhu H,Tang L,French P,McGinty J,Ruan S

    更新日期：2017-09-22 00:00:00

  • Cancer mortality does not differ by antiarrhythmic drug use: A population-based cohort of Finnish men.

    abstract：:In-vitro studies have suggested that the antiarrhythmic drug digoxin might restrain the growth of cancer cells by inhibiting Na+/K+-ATPase. We evaluated the association between cancer mortality and digoxin, sotalol and general antiarrhythmic drug use in a retrospective cohort study. The study population consists of 78...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-28541-4

    authors： Kaapu KJ,Rantaniemi L,Talala K,Taari K,Tammela TLJ,Auvinen A,Murtola TJ

    更新日期：2018-07-09 00:00:00

  • Effects of confinement and electron transport on magnetic switching in single Co nanoparticles.

    abstract：:This work reports the first study of current-driven magnetization noise in a single, nanometerscale, ferromagnetic (Co) particle, attached to normal metal leads by high-resistance tunneling junctions. As the tunnel current increases at low temperature, the magnetic switching field decreases, its probability distributi...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep01200

    authors： Jiang W,Birk FT,Davidović D

    更新日期：2013-01-01 00:00:00

  • Efficient single-pixel multispectral imaging via non-mechanical spatio-spectral modulation.

    abstract：:Combining spectral imaging with compressive sensing (CS) enables efficient data acquisition by fully utilizing the intrinsic redundancies in natural images. Current compressive multispectral imagers, which are mostly based on array sensors (e.g, CCD or CMOS), suffer from limited spectral range and relatively low photo...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep41435

    authors： Li Z,Suo J,Hu X,Deng C,Fan J,Dai Q

    更新日期：2017-01-27 00:00:00

  • Inhibition of protein aggregation by zwitterionic polymer-based core-shell nanogels.

    abstract：:Protein aggregation is a process by which misfolded proteins polymerizes into aggregates and forms fibrous structures with a β-sheet conformation, known as amyloids. It is an undesired outcome, as it not only causes numerous neurodegenerative diseases, but is also a major deterrent in the development of protein biopha...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep45777

    authors： Rajan R,Matsumura K

    更新日期：2017-04-04 00:00:00

  • Observation of photobleaching in Ge-deficient Ge16.8Se83.2 chalcogenide thin film with prolonged irradiation.

    abstract：:We presented the unusual result of photobleaching (PB) in Ge-deficient Ge16.8Se83.2 thin films with continuous irradiation with 560 nm laser for 12000 s, which is contradicted with the previous reports that the PB only occurs in GexSe100-x films with x > 30. Observation of the dynamics variations of the photo-induced ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-017-14796-w

    authors： Zhang S,Chen Y,Wang R,Shen X,Dai S

    更新日期：2017-11-06 00:00:00

  • Rigid Cooperation of Per1 and Per2 proteins.

    abstract：:Period circadian clock (Per) genes Per1 and Per2 have essential roles in circadian oscillation. In this study, we identified a new role of Per1-Per2 cooperation, and its mechanism, using our new experimental methods. Under constant light conditions, the period length of Per1 and Per2 knockout mice depended on the copy...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep32769

    authors： Tamiya H,Ogawa S,Ouchi Y,Akishita M

    更新日期：2016-09-09 00:00:00

  • Breast tumor movements analysis using MRI scans in prone and supine positions.

    abstract：:We quantitatively evaluated breast tumor movement and volume changes between magnetic resonance imaging (MRI) scans in prone and supine positions. Twenty-seven breast tumor patients who received neoadjuvant systemic therapy (NST) for breast-conserving surgery were studied. Before and after NST, MRI scans in prone and ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-61802-9

    authors： Wang CB,Lee S,Kim T,Hong D,Kim GB,Yoon GY,Kim HH,Kim N,Ko B

    更新日期：2020-03-17 00:00:00

  • Bursaphelenchus xylophilus is killed by homologues of 2-(1-undecyloxy)-1-ethanol.

    abstract：:2-(1-Undecyloxy)-1-ethanol, monochamol, is a male-produced aggregation pheromone of the Monochamus species, which are efficient vectors of the pine wood nematode (PWN), Bursaphelenchus xylophilus, which cause devastating damage to pines worldwide. The nematicidal activity of synthetic monochamol and its homologues (RO...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep29300

    authors： Kim J,Lee SM,Park CG

    更新日期：2016-07-11 00:00:00

  • Cell-specific pattern of berberine pleiotropic effects on different human cell lines.

    abstract：:The natural alkaloid berberine has several pharmacological properties and recently received attention as a potential anticancer agent. In this work, we investigated the molecular mechanisms underlying the anti-tumor effect of berberine on glioblastoma U343 and pancreatic carcinoma MIA PaCa-2 cells. Human dermal fibrob...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-28952-3

    authors： Agnarelli A,Natali M,Garcia-Gil M,Pesi R,Tozzi MG,Ippolito C,Bernardini N,Vignali R,Batistoni R,Bianucci AM,Marracci S

    更新日期：2018-07-13 00:00:00

  • AHNAK deficiency promotes browning and lipolysis in mice via increased responsiveness to β-adrenergic signalling.

    abstract：:In adipose tissue, agonists of the β3-adrenergic receptor (ADRB3) regulate lipolysis, lipid oxidation, and thermogenesis. The deficiency in the thermogenesis induced by neuroblast differentiation-associated protein AHNAK in white adipose tissue (WAT) of mice fed a high-fat diet suggests that AHNAK may stimulate energy...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep23426

    authors： Shin JH,Lee SH,Kim YN,Kim IY,Kim YJ,Kyeong DS,Lim HJ,Cho SY,Choi J,Wi YJ,Choi JH,Yoon YS,Bae YS,Seong JK

    更新日期：2016-03-18 00:00:00

  • The effect of nanometre-scale V-pits on electronic and optical properties and efficiency droop of GaN-based green light-emitting diodes.

    abstract：:The development of efficient green light-emitting diodes (LEDs) is of paramount importance for the realization of colour-mixing white LEDs with a high luminous efficiency. While the insertion of an InGaN/GaN superlattice (SL) with a lower In content before the growth of InGaN/GaN multiple quantum wells (MQWs) is known...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-29440-4

    authors： Zhou S,Liu X,Yan H,Gao Y,Xu H,Zhao J,Quan Z,Gui C,Liu S

    更新日期：2018-07-23 00:00:00

  • Oncological Outcome of Primary and Secondary Muscle-Invasive Bladder Cancer: A Systematic Review and Meta-analysis.

    abstract：:Conflicting results of survival outcomes for primary and secondary muscle-invasive bladder cancer (MIBC) have been reported in previous studies. Primary MIBC is defined as presentation of muscle-invasive disease at initial diagnosis while secondary MIBC presumes that non-muscle invasive disease later progressed to MIB...

    journal_title：Scientific reports

    pub_type： 杂志文章,meta分析

    doi：10.1038/s41598-018-26002-6

    authors： Ge P,Wang L,Lu M,Mao L,Li W,Wen R,Lin J,Wang J,Chen J

    更新日期：2018-05-15 00:00:00

  • The earliest evidence for modern-style plate tectonics recorded by HP-LT metamorphism in the Paleoproterozoic of the Democratic Republic of the Congo.

    abstract：:Knowing which geodynamic regimes characterised the early Earth is a fundamental question. This implies to determine when and how modern plate tectonics began. Today, the tectonic regime is dominated by mobile-lid tectonics including deep and cold subduction. However, in the early Earth (4.5 to 2 Ga) stagnant-lid tecto...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-018-33823-y

    authors： François C,Debaille V,Paquette JL,Baudet D,Javaux EJ

    更新日期：2018-10-18 00:00:00

  • Impact of Adsorption on Gas Transport in Nanopores.

    abstract：:Given the complex nature of the interaction between gas and solid atoms, the development of nanoscale science and technology has engendered a need for further understanding of gas transport behavior through nanopores and more tractable models for large-scale simulations. In the present paper, we utilize molecular dyna...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep23629

    authors： Wu T,Zhang D

    更新日期：2016-03-29 00:00:00

  • Synthesis and structure of a new thiazoline-based palladium(II) complex that promotes cytotoxicity and apoptosis of human promyelocytic leukemia HL-60 cells.

    abstract：:Cisplatin is one of the most widely used chemotherapeutic agents in the treatment of different tumors but has high toxicity and side effects. Therefore, the synthesis of new chemotherapeutic agents is necessary, so that they are effective in the treatment of cancer while avoiding such toxicity. In this study, we have ...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-020-73488-0

    authors： Espino J,Fernández-Delgado E,Estirado S,de la Cruz-Martinez F,Villa-Carballar S,Viñuelas-Zahínos E,Luna-Giles F,Pariente JA

    更新日期：2020-10-07 00:00:00

  • Anti-mitochondrial autoantibodies in systemic lupus erythematosus and their association with disease manifestations.

    abstract：:Mitochondria are organelles that govern energy supply and control cell death. Mitochondria also express bacterial features, such as the presence of inner membrane cardiolipin and a circular genome rich in hypomethylated CpG motifs. While mitochondrial extrusion by damaged organs or activated cells is thought to trigge...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/s41598-019-40900-3

    authors： Becker Y,Loignon RC,Julien AS,Marcoux G,Allaeys I,Lévesque T,Rollet-Labelle E,Benk-Fortin H,Cloutier N,Melki I,Eder L,Wagner É,Pelletier M,Hajj HE,Tremblay MÈ,Belleannée C,Hébert MJ,Dieudé M,Rauch J,Fortin PR,Boil

    更新日期：2019-03-14 00:00:00

  • Mannan-modified adenovirus targeting TERT and VEGFR-2: A universal tumour vaccine.

    abstract：:Antigen-presenting cells including dendritic cells (DCs) express mannan receptors (MR) on their surface, which can be exploited in cancer therapy by designing immune-stimulatory viruses coated with mannan-modified capsids that then bind to DCs and initiate a potent immune response. Although the combination of anti-ang...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep11275

    authors： Wang Y,Zhang J,Wu Y,Ding ZY,Luo XM,Liu J,Zhong WN,Deng GH,Xia XY,Deng YT,Wei YQ,Jiang Y

    更新日期：2015-06-18 00:00:00

  • Normally lethal amino acid substitutions suppress an ultramutator DNA Polymerase δ variant.

    abstract：:In yeast, the pol3-01,L612M double mutant allele, which causes defects in DNA polymerase delta (Pol δ) proofreading (pol3-01) and nucleotide selectivity (pol3-L612M), confers an "ultramutator" phenotype that rapidly drives extinction of haploid and diploid MMR-proficient cells. Here, we investigate antimutator mutatio...

    journal_title：Scientific reports

    pub_type： 杂志文章

    doi：10.1038/srep46535

    authors： Dennis DG,McKay-Fleisch J,Eitzen K,Dowsett I,Kennedy SR,Herr AJ

    更新日期：2017-04-18 00:00:00