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https://www.readbyqxmd.com/read/28521630/isolated-ventricular-noncompaction-cardiomyopathy-presenting-as-fetal-hydrops-at-24-weeks-gestation
#1
Jane E Armes, Lisa Squires, Rohan Lourie, Mark Williams, Renee Gallagher, Gareth Price, Andrew Stubbs, Sigrid Ma Swagemakers, Peter J van der Spek, James Harraway, Joseph Thomas, Deon J Venter
Ventricular noncompaction cardiomyopathy is a rare form of congenital cardiomyopathy with increasing evidence of genetic etiology, especially when presenting in childhood. Fetal presentation is rare. We describe a case of fetal hydrops, presenting at 24 weeks gestation and leading to intrapartum death at 26 weeks gestation. Autopsy examination revealed characteristic features of left ventricular noncompaction. A genetic analysis identified a constellation of variants of unknown significance in MYH6, TNNC1, and MYBPC3, genes known to be important in sarcomeric function...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521042/induced-pluripotent-stem-cell-modelling-of-hlhs-underlines-the-contribution-of-dysfunctional-notch-signalling-to-impaired-cardiogenesis
#2
Chunbo Yang, Yaobo Xu, Min Yu, David Lee, Sameer Alharti, Nicola Hellen, Noor Ahmad Shaik, Babajan Banaganapalli, Hussein Ali Mohamoud Sheikh, Elango Ramu, Stefan Przyborski, Gennadiy Tenin, Simon Williams, John O'Sullivan, Osman O Al-Radi, Jameel Atta, Sian E Harding, Bernard Keavney, Majlinda Lako, Lyle Armstrong
Hypoplastic left heart syndrome (HLHS) is among the most severe forms of congenital heart disease. Although the consensus view is that reduced flow through the left heart during development is a key factor in the development of the condition, the molecular mechanisms leading to hypoplasia of left heart structures are unknown. We have generated induced pluripotent stem cells (iPSC) from five HLHS patients and two unaffected controls, differentiated these to cardiomyocytes and identified reproducible in vitro cellular and functional correlates of the HLHS phenotype...
May 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28520448/-the-role-of-cardiovascular-magnetic-resonance-imaging-in-the-diagnosis-of-hypertrophic-cardiomyopathy-part-ii
#3
Martin Pleva, Júlia Borová, Ilona Plevová, Jaroslav Januška, Margita Belicová
Hypertrophic cardiomyopathy is currently understood as a group of diseases with left ventricular hypertrophy, which are not based on adaptive mechanisms. The first part of the review details the possibility of cardiac magnetic resonance in the diagnosis of sarcomeric forms of hypertrophic cardiomyopathy, the second part will focus on the possibilities of distinguishing the sarcomeric forms from their phenocopies.Key words: cardiac magnetic resonance - hypertrophic cardiomyopathy - phenocopies.
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28515850/dissection-of-z-disc-myopalladin-gene-network-involved-in-the-development-of-restrictive-cardiomyopathy-using-system-genetics-approach
#4
Qingqing Gu, Uzmee Mendsaikhan, Zaza Khuchua, Byron C Jones, Lu Lu, Jeffrey A Towbin, Biao Xu, Enkhsaikhan Purevjav
AIM: To investigate the regulation of Myopalladin (Mypn) and identify its gene network involved in restrictive cardiomyopathy (RCM). METHODS: Gene expression values were measured in the heart of a large family of BXD recombinant inbred (RI) mice derived from C57BL/6J and DBA/2J. The proteomics data were collected from Mypn knock-in and knock-out mice. Expression quantitative trait locus (eQTL) mapping methods and gene enrichment analysis were used to identify Mypn regulation, gene pathway and co-expression networks...
April 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28510120/obscurin-variants-and-inherited-cardiomyopathies
#5
REVIEW
Steven Marston
The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies, largely because its functional role is far from clear, although there was an isolated report in 2007 of obscurin mutations associated with HCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28510119/genetic-epidemiology-of-titin-truncating-variants-in-the-etiology-of-dilated-cardiomyopathy
#6
REVIEW
Ali M Tabish, Valerio Azzimato, Aris Alexiadis, Byambajav Buyandelger, Ralph Knöll
Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump enough blood to meet the body's metabolic demands. Major causes of HF are cardiomyopathies (diseases of the myocardium associated with mechanical and/or electrical dysfunction), among which the most common form is dilated cardiomyopathy (DCM). DCM is defined by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness, which leads to progressive HF. Over 60 genes are linked to the etiology of DCM...
May 5, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28510118/tampering-with-springs-phosphorylation-of-titin-affecting-the-mechanical-function-of-cardiomyocytes
#7
REVIEW
Nazha Hamdani, Melissa Herwig, Wolfgang A Linke
Reversible post-translational modifications of various cardiac proteins regulate the mechanical properties of the cardiomyocytes and thus modulate the contractile performance of the heart. The giant protein titin forms a continuous filament network in the sarcomeres of striated muscle cells, where it determines passive tension development and modulates active contraction. These mechanical properties of titin are altered through post-translational modifications, particularly phosphorylation. Titin contains hundreds of potential phosphorylation sites, the functional relevance of which is only beginning to emerge...
April 10, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28510117/novex-3-the-tiny-titin-of-muscle
#8
REVIEW
Dalma Kellermayer, John E Smith, Henk Granzier
The giant multi-functional striated muscle protein titin is the third most abundant muscle protein after myosin and actin. Titin plays a pivotal role in myocardial passive stiffness, structural integrity and stress-initiated signaling pathways. The complete sequence of the human titin gene contains three isoform-specific mutually exclusive exons [termed novel exons (novex)] coding for the I-band sequence, named novex-1 (exon 45), novex-2 (exon 46) and novex-3 (exon 48). Transcripts containing either the novex-1 or novex-2 exons code for the novex-1 and novex-2 titin isoforms...
April 7, 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28510043/pseudophosphorylation-of-cardiac-myosin-regulatory-light-chain-a-promising-new-tool-for-treatment-of-cardiomyopathy
#9
REVIEW
Sunil Yadav, Danuta Szczesna-Cordary
Many genetic mutations in sarcomeric proteins, including the cardiac myosin regulatory light chain (RLC) encoded by the MYL2 gene, have been implicated in familial cardiomyopathies. Yet, the molecular mechanisms by which these mutant proteins regulate cardiac muscle mechanics in health and disease remain poorly understood. Evidence has been accumulating that RLC phosphorylation has an influential role in striated muscle contraction and, in addition to the conventional modulation via Ca(2+) binding to troponin C, it can regulate cardiac muscle function...
February 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28508547/functional-phosphatome-requirement-for-protein-homeostasis-networked-mitochondria-and-sarcomere-structure-in-c-%C3%A2-elegans-muscle
#10
Susann Lehmann, Joseph J Bass, Thomas F Barratt, Mohammed Z Ali, Nathaniel J Szewczyk
BACKGROUND: Skeletal muscle is central to locomotion and metabolic homeostasis. The laboratory worm Caenorhabditis elegans has been developed into a genomic model for assessing the genes and signals that regulate muscle development and protein degradation. Past work has identified a receptor tyrosine kinase signalling network that combinatorially controls autophagy, nerve signal to muscle to oppose proteasome-based degradation, and extracellular matrix-based signals that control calpain and caspase activation...
May 15, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28502773/phosphorylation-of-%C3%AE-b-crystallin-in-the-myocardium-analysis-of-relations-with-aging-and-cardiomyopathy
#11
Natalia A Muraleva, Vasiliy A Devyatkin, Nataliya G Kolosova
Phosphorylation is a major post-translational modification of αB-crystallin (CryaB) and determines this protein's chaperone activity, intracellular distribution, translocation, and cytoprotective functions. Phosphorylation of CryaB manifests itself as either beneficial or deleterious consequences depending on the extent of phosphorylation and interaction with the cytoskeleton. Herein, for the first time, we compared the age-related alterations of the expression and phosphorylation (on Ser59: pS59) of CryaB in the myocardium of Wistar and senescence-accelerated OXYS rats...
May 11, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/28497946/nanopillar-surface-topology-promotes-cardiomyocyte-differentiation-through-cofilin-mediated-cytoskeleton-rearrangement
#12
Ha-Rim Seo, Hyung Joon Joo, Dae Hwan Kim, Long-Hui Cui, Seung-Cheol Choi, Jong-Ho Kim, Sung Woo Cho, Kyu Back Lee, Do-Sun Lim
Nanoscaled surface patterning is an emerging potential method of directing the fate of stem cells. We adopted nanoscaled pillar gradient patterned cell culture plates with three diameter gradients [280-360 (GP 280/360), 200-280 (GP 200/280), and 120-200 nm (GP 120/200)] and investigated their cell fate-modifying effect on multipotent fetal liver kinase 1-positive mesodermal precursor cells (Flk1(+) MPCs) derived from embryonic stem cells. We observed increased cell proliferation and colony formation of the Flk1(+) MPCs on the nanopattern plates...
May 12, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28494946/tropomodulins-and-leiomodins-actin-pointed-end-caps-and-nucleators-in-muscles
#13
REVIEW
Velia M Fowler, Roberto Dominguez
Cytoskeletal structures characterized by actin filaments with uniform lengths, including the thin filaments of striated muscles and the spectrin-based membrane skeleton, use barbed and pointed-end capping proteins to control subunit addition/dissociation at filament ends. While several proteins cap the barbed end, tropomodulins (Tmods), a family of four closely related isoforms in vertebrates, are the only proteins known to specifically cap the pointed end. Tmods are ∼350 amino acids in length, and comprise alternating tropomyosin- and actin-binding sites (TMBS1, ABS1, TMBS2, and ABS2)...
May 9, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28493867/transplantation-of-purified-ipsc-derived-cardiomyocytes-in-myocardial-infarction
#14
Sebastian V Rojas, George Kensah, Alexander Rotaermel, Hassina Baraki, Ingo Kutschka, Robert Zweigerdt, Ulrich Martin, Axel Haverich, Ina Gruh, Andreas Martens
BACKGROUND: Induced pluripotent stem cells (iPSC) can be differentiated into cardiomyocytes and represent a possible autologous cell source for myocardial repair. We analyzed the engraftment and functional effects of murine iPSC-derived cardiomyocytes (iPSC-CMs) in a murine model of myocardial infarction. METHODS AND RESULTS: To maximize cardiomyocyte yield and purity a genetic purification protocol was applied. Murine iPSCs were genetically modified to express a Zeocin™ resistance gene under control of the cardiac-specific α-myosin heavy chain (α-MHC, MYH6) promoter...
2017: PloS One
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#15
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28475269/ultrastructural-preservation-of-tissues-and-their-reaction-to-the-infection-with-trichinella-in-the-el-plomo-mummy-muscle-fiber-ultrastructure-and-trichinosis-mummy-of-the-cerro-el-plomo
#16
Rodríguez Héctor, Espinoza-Navarro Omar, Mercedes González, Castro Mario
The El Plomo mummy was a pre-Columbian Incan child who was found mummified in the Andes Mountains above an altitude of 17,700 feet. In the environment, natural mummification occurred due to low temperatures and strong winds. Dating measurements (relative dating) by experts from the National Museum of Natural History of Chile established that the mummified body corresponds the Inca period (1,450 to 1,500 AD). In 2003, the body was transferred to the University of Chile Medical School for exhaustive medical examination...
May 5, 2017: Microscopy Research and Technique
https://www.readbyqxmd.com/read/28469177/early-signs-of-architectural-and-biomechanical-failure-in-isolated-myofibers-and-immortalized-myoblasts-from-desmin-mutant-knock-in-mice
#17
Stefanie Diermeier, Julian Iberl, Kristina Vetter, Michael Haug, Charlotte Pollmann, Barbara Reischl, Andreas Buttgereit, Sebastian Schürmann, Marina Spörrer, Wolfgang H Goldmann, Ben Fabry, Fatiha Elhamine, Robert Stehle, Gabriele Pfitzer, Lilli Winter, Christoph S Clemen, Harald Herrmann, Rolf Schröder, Oliver Friedrich
In striated muscle, desmin intermediate filaments interlink the contractile myofibrillar apparatus with mitochondria, nuclei, and the sarcolemma. The desmin network's pivotal role in myocytes is evident since mutations in the human desmin gene cause severe myopathies and cardiomyopathies. Here, we investigated skeletal muscle pathology in myofibers and myofibrils isolated from young hetero- and homozygous R349P desmin knock-in mice, which carry the orthologue of the most frequent human desmin missense mutation R350P...
May 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28465030/twente-spine-model-a-complete-and-coherent-dataset-for-musculo-skeletal-modeling-of-the-thoracic-and-cervical-regions-of-the-human-spine
#18
Riza Bayoglu, Leo Geeraedts, Karlijn H J Groenen, Nico Verdonschot, Bart Koopman, Jasper Homminga
Musculo-skeletal modeling could play a key role in advancing our understanding of the healthy and pathological spine, but the credibility of such models are strictly dependent on the accuracy of the anatomical data incorporated. In this study, we present a complete and coherent musculo-skeletal dataset for the thoracic and cervical regions of the human spine, obtained through detailed dissection of an embalmed male cadaver. We divided the muscles into a number of muscle-tendon elements, digitized their attachments at the bones, and measured morphological muscle parameters...
April 20, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/28464239/combined-effects-of-bone-morphogenetic-protein-10-and-crossveinless-2-on-cardiomyocyte-differentiation-in-mouse-adipocyte-derived-stem-cells
#19
Medet Jumabay, Jiayinaguli Zhumabai, Nurlan Mansurov, Katharine C Niklason, Pierre J Guihard, Alan M Fogelman, Luisa Iruela-Arispe, Yucheng Yao, Arman Saparov, Kristina I Boström
Bone morphogenetic protein (BMP) 10, a cardiac-restricted BMP family member, is essential in cardiomyogenesis, especially during trabeculation. Crossveinless-2 [CV2, also known as BMP endothelial cell precursor derived regulator (BMPER)] is a BMP-binding protein that modulates the activity of several BMPs. The objective of this study was to examine the combined effects of BMP10 and CV2 on cardiomyocyte differentiation using mouse dedifferentiated fat (mDFAT) cells, which spontaneously differentiate into cardiomyocyte-like cells, as a model...
May 2, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28464104/postmortem-protein-degradation-is-a-key-contributor-to-fresh-pork-loin-tenderness
#20
K B Carlson, K J Prusa, C A Fedler, E M Steadham, A C Outhouse, D A King, E Huff-Lonergan, S M Lonergan
The objective of this study was to determine factors that influence tenderness independent of variation in pH, color, or marbling. To achieve the objective, 2 sample groups were chosen from a population of 159 pork loins aged 11 to 16 d. Predetermined ranges (ultimate pH, 5.54 to 5.86; marbling score, 1.0 to 3.0; percent total lipid, 1.61 to 3.37%) were defined for inclusion of individual loins in the study. The pork loins with the greatest ( = 12) and least ( = 12) Instron star probe values were assigned to 2 classification groups...
April 2017: Journal of Animal Science
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