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https://www.readbyqxmd.com/read/28436080/genotype-specific-pathogenic-effects-in-human-dilated-cardiomyopathy
#1
Ilse Ae Bollen, Maike Schuldt, Magdalena Harakalova, Aryan Vink, Folkert W Asselbergs, Jose R Pinto, Martina Krüger, Diederik Wd Kuster, Jolanda van der Velden
BACKGROUND: Dilated cardiomyopathy (DCM) can be caused by mutations in sarcomeric and non-sarcomeric genes. In this study we defined the pathogenic effects of three DCM causing mutations: the sarcomeric mutations in genes encoding cardiac troponin I (TNNI3p.98truncation ) and cardiac troponin T (TNNT2p.K217deletion ; also known as the K210del) and the non-sarcomeric gene mutation encoding lamin A/C (LMNAp.R331Q ). METHODS: We assessed sarcomeric protein expression and phosphorylation and contractile behaviour in single membrane-permeabilized cardiomyocytes in human left ventricular heart tissue...
April 24, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28433557/early-changes-of-left-ventricular-filling-pattern-after-reperfused-st-elevation-myocardial-infarction-and-doxycycline-therapy-insights-from-the-tiptop-trial
#2
Giampaolo Cerisano, Piergiovanni Buonamici, Guido Parodi, Alberto Santini, Guia Moschi, Renato Valenti, Angela Migliorini, Paolo Colonna, Benedetta Bellandi, Anna Maria Gori, David Antoniucci
AIM: Metalloproteinases inhibition by doxycycline reduces cardiac protein degradation at extracellular and intracellular level in the experimental model ischemia/reperfusion injury. Since both extracellular cardiac matrix and titin filaments inside the cardiomyocyte are responsible for the myocardial stiffness, we hypothesized that doxycycline could favorably act on left ventricular (LV) filling pressures in patients after reperfused acute ST-elevation myocardial infarction (STEMI). METHODS AND RESULTS: Seventy-three of 110 patients of the TIPTOP trial underwent a 2D-Echo-Doppler on admission, and at pre-discharge and at 6-month after a primary PCI for STEMI and LV dysfunction...
April 7, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28423146/recovery-in-patients-with-dilated-cardiomyopathy-with-loss-of-function-mutations-in-the-titin-gene
#3
Kevin Luk, Abeer Bakhsh, Nadia Giannetti, Eleanor Elstein, Mark Lathrop, George Thanassoulis, James C Engert
No abstract text is available yet for this article.
April 19, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28394039/elasticity-of-the-transition-state-leading-to-an-unexpected-mechanical-stabilization-of-titin-immunoglobulin-domains
#4
Guohua Yuan, Shimin Le, Mingxi Yao, Hui Qian, Xin Zhou, Jie Yan, Hu Chen
The giant protein titin plays a critical role in regulating the passive elasticity of muscles, mainly through the stochastic unfolding and refolding of its numerous immunoglobulin domains in the I-band of sarcomeres. The unfolding dynamics of titin immunoglobulin domains at a force range greater than 100 pN has been studied by atomic force microscopy, while that at smaller physiological forces has not been measured before. By using magnetic tweezers, it is found that the titin I27 domain unfolds in a surprising non-monotonic force-dependent manner at forces smaller than 100 pN, with the slowest unfolding rate occurring around 22 pN...
April 10, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28391696/muscle-protein-profiles-used-for-prediction-of-texture-of-farmed-salmon-salmo-salar-l
#5
Gine Ørnholt-Johansson, Stina Frosch, María Gudjónsdóttir, Tune Wulff, Flemming Jessen
A soft texture is undesired in Atlantic salmon as it leads to downgrading and reduced yield, yet it is a factor for which the cause is not fully understood. This lack of understanding highlights the need for identifying the cause of the soft texture and developing solutions by which the processing industry can improve the yield. Changes in muscle protein profiles can occur both pre- and postharvest and constitute an overall characterization of the muscle properties including texture. The aim of this study was to investigate this relationship between specific muscle proteins and the texture of the salmon fillet...
April 18, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28364296/juvenile-onset-myasthenia-gravis-autoantibody-status-clinical-characteristics-and-genetic-polymorphisms
#6
Yu Hong, Geir Olve Skeie, Paraskevi Zisimopoulou, Katerina Karagiorgou, Socrates J Tzartos, Xiang Gao, Yao-Xian Yue, Fredrik Romi, Xu Zhang, Hai-Feng Li, Nils Erik Gilhus
Myasthenia gravis (MG) is an autoimmune disorder mediated by antibodies against proteins at the neuromuscular junction. Juvenile-onset MG (JMG) has been reported to have special characteristics. It is still unclear whether there are any pathogenic and genetic differences between juvenile and adult MG. In this study, we evaluated the clinical characteristics, autoantibody status (antibodies against AChR, MuSK, LRP4, titin and RyR) and genetic susceptibility (CHRNA1, CTLA4 and AIRE) in 114 Chinese JMG patients, and compared with 207 young adult MG patients (onset age 18-40 years)...
March 31, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28353642/dysregulated-ier3-expression-is-associated-with-enhanced-apoptosis-in-titin-based-dilated-cardiomyopathy
#7
Qifeng Zhou, Julia Kelley Hahn, Balram Neupane, Parwez Aidery, Siegfried Labeit, Meinrad Gawaz, Michael Gramlich
Apoptosis (type I programmed cell death) of cardiomyocytes is a major process that plays a role in the progression of heart failure. The early response gene IER3 regulates apoptosis in a wide variety of cells and organs. However, its role in heart failure is largely unknown. Here, we investigate the role of IER3 in an inducible heart failure mouse model. Heart failure was induced in a mouse model that imitates a human titin truncation mutation we found in a patient with dilated cardiomyopathy (DCM). Transferase dUTP nick end labeling (TUNEL) and ssDNA stainings showed induction of apoptosis in titin-deficient cardiomyocytes during heart failure development, while IER3 response was dysregulated...
March 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28333386/myofilaments-movers-and-rulers-of-the-sarcomere
#8
Brian Leei Lin, Taejeong Song, Sakthivel Sadayappan
Striated cardiac and skeletal muscles play very different roles in the body, but they are similar at the molecular level. In particular, contraction, regardless of the type of muscle, is a precise and complex process involving the integral protein myofilaments and their associated regulatory components. The smallest functional unit of muscle contraction is the sarcomere. Within the sarcomere can be found a sophisticated ensemble of proteins associated with the thick filaments (myosin, myosin binding protein-C, titin, and obscurin) and thin myofilaments (actin, troponin, tropomyosin, nebulin, and nebulette)...
March 16, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28320300/chronic-alcohol-intoxication-is-not-accompanied-by-an-increase-in-calpain-proteolytic-activity-in-cardiac-muscle-of-rats
#9
Yu V Gritsyna, N N Salmov, A G Bobylev, I S Fadeeva, N I Fesenko, D G Sadikova, N I Kukushkin, Z A Podlubnaya, I M Vikhlyantsev
Enzymatic activity of Ca2+-dependent calpain proteases as well as the content and gene expression of μ-calpain (activated by micromolar calcium ion concentrations), calpastatin (inhibitor of calpains), and titin (substrate for calpains) were investigated in cardiac muscles of rats subjected to chronic alcoholization for 3 and 6 months. There was no increase in the "heart weight/body weight" parameter indicating development of heart hypertrophy in the alcoholized rats, while a decreasing trend was observed for this parameter in the rats after 6-month modeling of alcoholic cardiomyopathy, which indicated development of atrophic changes in the myocardium...
February 2017: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/28317377/3d-printed-ultratough-hydrogel-structures-with-titin-like-domains
#10
Fengbo Zhu, Libo Cheng, Zhi Jian Wang, Wei Hong, Zi Liang Wu, Jun Yin, Jin Qian, Qiang Zheng
Titin is composed of repeated modular domains which unfold and dissipate energy upon loading. Here we employed such molecular-level paradigm to fabricate macroscopic ultratough hydrogel structures with titin-like domains, enabled by three-dimensional printing with multiple nozzles. Under stretch, the relatively thin and weak gel fibers in the printed structures break first and the hidden lengths postpone the failure of the main structures, mimicking the toughening principle in titin. These titin-like folded domains have been incorporated into a synthetic spider-web, which shows significantly enhanced extensibility and toughness...
March 22, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28315399/truncating-titin-ttn-variants-in-chemotherapy-induced-cardiomyopathy
#11
M Linschoten, A J Teske, A F Baas, A Vink, D Dooijes, H F Baars, F W Asselbergs
Chemotherapy-induced cardiomyopathy (CCMP) is a complication of chemotherapy treatment occurring in 9% of patients treated with anthracyclines. Currently, risk stratification is based on clinical risk factors that do not adequately explain the variable individual susceptibility. This points towards the presence of other determinants. In this case series, we describe two women with breast cancer that developed severe heart failure within months after chemotherapy. Genetic screening revealed truncating frameshift mutations in TTN, encoding the myofilament titin, in both women...
March 14, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28298172/potential-prognostic-biomarkers-of-cardiovascular-disease-in-fetal-macrosomia-the-impact-of-gestational-diabetes
#12
Despina D Briana, Κleopatra Germanou, Μaria Boutsikou, Theodora Boutsikou, Νikolaos Athanasopoulos, Αntonios Μarmarinos, Dimitrios Gourgiotis, Αriadne Malamitsi-Puchner
OBJECTIVE: Fetal macrosomia is associated with cardiac hypertrophy and increased cardiovascular risk. Cardiac biomarkers may play diagnostic/prognostic role in cardiovascular disease. We tested whether cardiac biomarkers are differentially expressed in cord blood samples of full-term singleton large-for-gestational-age (LGA), as compared to appropriate-for-gestational-age (AGA) pregnancies. METHODS: Cardiotrophin-1 (CT-1), Titin, pentraxin (PTX-3) and soluble CD36 (sCD36) concentrations were determined in 80 cord blood samples from a) LGA pregnancies due to maternal diabetes (n = 8), overweight/obese (n = 11), excessive weight gain (n = 7), without specific pathology (n = 14), b) AGA normal pregnancies (controls, n = 40)...
March 15, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28295036/a-novel-recessive-ttn-founder-variant-is-a-common-cause-of-distal-myopathy-in-the-serbian-population
#13
Stojan Perić, Jelena Nikodinović Glumac, Ana Töpf, Dušanka Savić-Pavićević, Lauren Phillips, Katherine Johnson, Marcus Cassop-Thompson, Liwen Xu, Marta Bertoli, Monkol Lek, Daniel MacArthur, Miloš Brkušanin, Sanja Milenković, Vedrana Milić Rašić, Bojan Banko, Ružica Maksimović, Hanns Lochmüller, Vidosava Rakočević Stojanović, Volker Straub
Variants in the TTN gene have been associated with distal myopathies and other distinctive phenotypes involving skeletal and cardiac muscle. Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. All patients share a common 1 Mb core haplotype associated with c.107635C>T, suggesting a founder variant. In compound heterozygotes, nine other TTN variants were identified: four stop-gain, three frameshift, one missense and one splice donor variant...
May 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28272024/multidomain-proteins-under-force
#14
Jessica Valle-Orero, Jaime Andrés Rivas-Pardo, Ionel Popa
Advancements in single-molecule force spectroscopy techniques such as atomic force microscopy and magnetic tweezers allow investigation of how domain folding under force can play a physiological role. Combining these techniques with protein engineering and HaloTag covalent attachment, we investigate similarities and differences between four model proteins: I10 and I91-two immunoglobulin-like domains from the muscle protein titin, and two α + β fold proteins-ubiquitin and protein L. These proteins show a different mechanical response and have unique extensions under force...
April 28, 2017: Nanotechnology
https://www.readbyqxmd.com/read/28242778/%C3%AE-b-crystallin-reverses-high-diastolic-stiffness-of-failing-human-cardiomyocytes
#15
Constantijn Franssen, Jeroen Kole, René Musters, Nazha Hamdani, Walter J Paulus
BACKGROUND: Cardiomyocytes with a less distensible titin and interstitial collagen contribute to the high diastolic stiffness of failing myocardium. Their relative contributions and mechanisms underlying loss of titin distensibility were assessed in failing human hearts. METHODS AND RESULTS: Left ventricular tissue was procured in patients with aortic stenosis (AS, n=9) and dilated cardiomyopathy (DCM, n=6). Explanted donor hearts (n=8) served as controls. Stretches were performed in myocardial strips, and an extraction protocol differentiated between passive tension (Fpassive) attributable to cardiomyocytes or to collagen...
March 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28228157/genetics-and-genomics-of-dilated-cardiomyopathy-and-systolic-heart-failure
#16
REVIEW
Upasana Tayal, Sanjay Prasad, Stuart A Cook
Heart failure is a major health burden, affecting 40 million people globally. One of the main causes of systolic heart failure is dilated cardiomyopathy (DCM), the leading global indication for heart transplantation. Our understanding of the genetic basis of both DCM and systolic heart failure has improved in recent years with the application of next-generation sequencing and genome-wide association studies (GWAS). This has enabled rapid sequencing at scale, leading to the discovery of many novel rare variants in DCM and of common variants in both systolic heart failure and DCM...
February 22, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28214268/219th-enmc-international-workshop-titinopathies-international-database-of-titin-mutations-and-phenotypes-heemskerk-the-netherlands-29-april-1-may-2016
#17
Peter Hackman, Bjarne Udd, Carsten G Bönnemann, Ana Ferreiro
No abstract text is available yet for this article.
January 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28213770/myosin-heavy-chain-and-cardiac-troponin-t-damage-is-associated-with-impaired-myofibrillar-atpase-activity-contributing-to-sarcomeric-dysfunction-in-ca-2-paradox-rat-hearts
#18
Árpád Kovács, Judit Kalász, Enikő T Pásztor, Attila Tóth, Zoltán Papp, Naranjan S Dhalla, Judit Barta
This study aimed to explore the potential contribution of myofibrils to contractile dysfunction in Ca(2+)-paradox hearts. Isolated rat hearts were perfused with Krebs-Henseleit solution (Control), followed by Ca(2+)-depletion, and then Ca(2+)-repletion after Ca(2+)-depletion (Ca(2+)-paradox) by Langendorff method. During heart perfusion left ventricular developed pressure (LVDP), end-diastolic pressure (LVEDP), rate of pressure development (+ dP/dt), and pressure decay (-dP/dt) were registered. Control LVDP (127...
February 17, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28173117/exploiting-the-crispr-cas9-system-to-study-alternative-splicing-in-vivo-application-to-titin
#19
Karine Charton, Laurence Suel, Sara F Henriques, Jean-Paul Moussu, Matteo Bovolenta, Miguel Taillepierre, Céline Becker, Karelia Lipson, Isabelle Richard
No abstract text is available yet for this article.
October 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28151760/titin-truncating-mutations-in-dilated-cardiomyopathy-the-long-and-short-of-it
#20
Diane Fatkin, Inken G Huttner
PURPOSE OF REVIEW: Truncating variants in the TTN gene (TTNtv) are frequently identified in patients with dilated cardiomyopathy (DCM) but are also present in apparently healthy people in the general population. Consequently, there is considerable uncertainty about what it means for any single individual if a TTNtv is found. The aim of this review is to summarize current evidence implicating TTNtv in DCM pathogenesis and to provide some interpretative guidelines for clinical management...
February 1, 2017: Current Opinion in Cardiology
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