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https://www.readbyqxmd.com/read/27768722/the-heparan-sulfate-proteoglycan-glypican-6-is-upregulated-in-the-failing-heart-and-regulates-cardiomyocyte-growth-through-erk1-2-signaling
#1
Arne O Melleby, Mari E Strand, Andreas Romaine, Kate M Herum, Biljana Skrbic, Christen P Dahl, Ivar Sjaastad, Arnt E Fiane, Jorge Filmus, Geir Christensen, Ida G Lunde
Pressure overload is a frequent cause of heart failure. Heart failure affects millions of patients worldwide and is a major cause of morbidity and mortality. Cell surface proteoglycans are emerging as molecular players in cardiac remodeling, and increased knowledge about their regulation and function is needed for improved understanding of cardiac pathogenesis. Here we investigated glypicans (GPC1-6), a family of evolutionary conserved heparan sulfate proteoglycans anchored to the extracellular leaflet of the cell membrane, in experimental and clinical heart failure, and explored the function of glypican-6 in cardiac cells in vitro...
2016: PloS One
https://www.readbyqxmd.com/read/27742266/proteomic-analysis-of-muccopolysaccharidosis-i-mouse-brain-with-two-dimensional-polyacrylamide-gel-electrophoresis
#2
Li Ou, Michael J Przybilla, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is due to deficiency of α-l-iduronidase (IDUA) and subsequent storage of undegraded glycosaminoglycans (GAG). The severe form of the disease, known as Hurler syndrome, is characterized by mental retardation and neurodegeneration of unknown etiology. To identify potential biomarkers and unveil the neuropathology mechanism of MPS I disease, two-dimensional polyacrylamide gel electrophoresis (PAGE) and nanoliquid chromatography-tandem mass spectrometry (nanoLC-MS/MS) were applied to compare proteome profiling of brains from MPS I and control mice (5-month old)...
October 11, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27696085/transcriptomic-effects-of-adenosine-2a-receptor-deletion-in-healthy-and-endotoxemic-murine-myocardium
#3
Kevin J Ashton, Melissa E Reichelt, S Jamal Mustafa, Bunyen Teng, Catherine Ledent, Lea M D Delbridge, Polly A Hofmann, R Ray Morrison, John P Headrick
Influences of adenosine 2A receptor (A2AR) activity on the cardiac transcriptome and genesis of endotoxemic myocarditis are unclear. We applied transcriptomic profiling (39 K Affymetrix arrays) to identify A2AR-sensitive molecules, revealed by receptor knockout (KO), in healthy and endotoxemic hearts. Baseline cardiac function was unaltered and only 37 A2AR-sensitive genes modified by A2AR KO (≥1.2-fold change, <5 % FDR); the five most induced are Mtr, Ppbp, Chac1, Ctsk and Cnpy2 and the five most repressed are Hp, Yipf4, Acta1, Cidec and Map3k2...
September 30, 2016: Purinergic Signalling
https://www.readbyqxmd.com/read/27389816/new-aspects-of-myofibrillar-myopathies
#4
Rudolf A Kley, Montse Olivé, Rolf Schröder
PURPOSE OF REVIEW: Myofibrillar myopathies (MFMs) are hereditary muscle disorders characterized by distinct histopathological features. This review provides an overview of recent research with respect to new disease genes, clinical phenotypes, insights into pathomechanisms and therapeutic strategies. RECENT FINDINGS: Beyond the known disease genes DES, FLNC, MYOT, CRYAB, ZASP, BAG3, FHL1 and TTN, mutations in PLEC, ACTA1, HSPB8 and DNAJB6 have also been associated with a MFM phenotype...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27357517/the-de-novo-missense-mutation-n117s-in-skeletal-muscle-%C3%AE-%C3%A2-actin%C3%A2-1-causes-a-mild-form-of-congenital-nemaline-myopathy
#5
Liu Yang, Ping Yu, Xiang Chen, Tao Cai
Nemaline myopathy (NM) constitutes a spectrum of primary skeletal muscle disorders, the diagnosis of which is based on muscle weakness and the visualization of nemaline bodies in muscle biopsies. Mutations in several NM causal genes have been attributed to the majority of NM cases, particularly mutations in nebulin and skeletal muscle α‑actin 1 (ACTA1), which are responsible for ~70% of cases; therefore, a genetic diagnostic strategy using targeted gene sequencing may potentially improve the diagnosis of suspected NM...
August 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27305318/identification-of-differentially-expressed-genes-between-high-and-low-marbling-score-grades-of-the-longissimus-lumborum-muscle-in-hanwoo-korean-cattle
#6
S C Shin, E R Chung
We conducted DD-RT-PCR analysis to identify differentially expressed genes between high and low marbling score groups with extremely different IMF content of the longissimus lumborum muscles in Hanwoo. We detected 137 DEGs between two marbling score groups. Of these DEGs, 41 DEGs were highly expressed in the high marbling score group, whereas 96 DEGs showed a higher expression in the low marbling score group. Among them, we selected eight DEGs exhibiting the greatest differential expression levels between two marbling score groups...
November 2016: Meat Science
https://www.readbyqxmd.com/read/27121343/an-examination-of-the-regulatory-mechanism-of-pxdn-mutation-induced-eye-disorders-using-microarray-analysis
#7
Yang Yang, Yiqiao Xing, Chaoqun Liang, Liya Hu, Fei Xu, Qi Mei
The present study aimed to identify biomarkers for peroxidasin (Pxdn) mutation-induced eye disorders and study the underlying mechanisms involved in this process. The microarray dataset GSE49704 was used, which encompasses 4 mouse samples from embryos with Pxdn mutation and 4 samples from normal tissues. After data preprocessing, the differentially expressed genes (DEGs) between Pxdn mutation and normal tissues were identified using the t-test in the limma package, followed by functional enrichment analysis...
June 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27112274/myopathy-inducing-mutation-h40y-in-acta1-hampers-actin-filament-structure-and-function
#8
Chun Chan, Jun Fan, Andrew E Messer, Steve B Marston, Hiroyuki Iwamoto, Julien Ochala
In humans, more than 200 missense mutations have been identified in the ACTA1 gene. The exact molecular mechanisms by which, these particular mutations become toxic and lead to muscle weakness and myopathies remain obscure. To address this, here, we performed a molecular dynamics simulation, and we used a broad range of biophysical assays to determine how the lethal and myopathy-related H40Y amino acid substitution in actin affects the structure, stability, and function of this protein. Interestingly, our results showed that H40Y severely disrupts the DNase I-binding-loop structure and actin filaments...
August 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27105866/new-mutations-in-neb-gene-discovered-by-targeted-next-generation-sequencing-in-nemaline-myopathy-italian-patients
#9
Daniela Piga, Francesca Magri, Dario Ronchi, Stefania Corti, Denise Cassandrini, Eugenio Mercuri, Giorgio Tasca, Enrico Bertini, Fabiana Fattori, Antonio Toscano, Sonia Messina, Isabella Moroni, Marina Mora, Maurizio Moggio, Irene Colombo, Teresa Giugliano, Marika Pane, Chiara Fiorillo, Adele D'Amico, Claudio Bruno, Vincenzo Nigro, Nereo Bresolin, Giacomo Pietro Comi
Nemaline myopathy represents a group of clinically and genetically heterogeneous neuromuscular disorders. Different clinical-genetic entities have been characterized in the last few years, with implications for diagnostics and genetic counseling. Fifty percent of nemaline myopathy forms are due to NEB mutations, but genetic analysis of this large and complex gene by Sanger sequencing is time consuming and expensive. We selected 10 Italian patients with clinical and biopsy features suggestive for nemaline myopathy and negative for ACTA1, TPM2 and TPM3 mutations...
July 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27102768/treatment-with-actriib-mfc-produces-myofiber-growth-and-improves-lifespan-in-the-acta1-h40y-murine-model-of-nemaline-myopathy
#10
Jennifer Tinklenberg, Hui Meng, Lin Yang, Fujun Liu, Raymond G Hoffmann, Mahua Dasgupta, Kenneth P Allen, Alan H Beggs, Edna C Hardeman, R Scott Pearsall, Robert H Fitts, Michael W Lawlor
Nemaline myopathies (NMs) are a group of congenital muscle diseases caused by mutations in at least 10 genes and associated with a range of clinical symptoms. NM is defined on muscle biopsy by the presence of cytoplasmic rod-like structures (nemaline rods) composed of cytoskeletal material. Myofiber smallness is also found in many cases of NM and may represent a cause of weakness that can be counteracted by treatment. We have used i.p. injection of activin type IIB receptor (ActRIIB)-mFc (an inhibitor of myostatin signaling) to promote hypertrophy and increase strength in our prior murine work; we therefore tested whether ActRIIB-mFc could improve weakness in NM mice through myofiber hypertrophy...
June 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27074222/mutation-specific-effects-on-thin-filament-length-in-thin-filament-myopathy
#11
Josine M de Winter, Barbara Joureau, Eun-Jeong Lee, Balázs Kiss, Michaela Yuen, Vandana A Gupta, Christopher T Pappas, Carol C Gregorio, Ger J M Stienen, Simon Edvardson, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari, Katarina Pelin, Edoardo Malfatti, Norma B Romero, Baziel G van Engelen, Nicol C Voermans, Sandra Donkervoort, C G Bönnemann, Nigel F Clarke, Alan H Beggs, Henk Granzier, Coen A C Ottenheijm
OBJECTIVE: Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament. Mechanisms underlying muscle weakness are poorly understood, but might involve the length of the thin filament, an important determinant of force generation. METHODS: We investigated the sarcomere length-dependence of force, a functional assay that provides insights into the contractile strength of muscle fibers as well as the length of the thin filaments, in muscle fibers from 51 patients with thin filament myopathy caused by mutations in NEB, ACTA1, TPM2, TPM3, TNNT1, KBTBD13, KLHL40, and KLHL41...
June 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27059739/association-between-acta1-candidate-gene-and-performance-organs-and-carcass-traits-in-broilers
#12
G C Venturini, N B Stafuzza, D F Cardoso, F Baldi, M C Ledur, J O Peixoto, L El Faro, D P Munari
No abstract text is available yet for this article.
May 2016: Poultry Science
https://www.readbyqxmd.com/read/26919721/long-non-coding-rna-malat-1-is-dispensable-during-pressure-overload-induced-cardiac-remodeling-and-failure-in-mice
#13
Tim Peters, Steffie Hermans-Beijnsberger, Abdelaziz Beqqali, Nicole Bitsch, Shinichi Nakagawa, Kannanganattu V Prasanth, Leon J de Windt, Ralph J van Oort, Stephane Heymans, Blanche Schroen
BACKGROUND: Long non-coding RNAs (lncRNAs) are a class of RNA molecules with diverse regulatory functions during embryonic development, normal life, and disease in higher organisms. However, research on the role of lncRNAs in cardiovascular diseases and in particular heart failure is still in its infancy. The exceptionally well conserved nuclear lncRNA Metastasis associated in lung adenocarcinoma transcript 1 (Malat-1) is a regulator of mRNA splicing and highly expressed in the heart...
2016: PloS One
https://www.readbyqxmd.com/read/26891371/modulating-myosin-restores-muscle-function-in-a-mouse-model-of-nemaline-myopathy
#14
Johan Lindqvist, Yotam Levy, Alisha Pati-Alam, Edna C Hardeman, Paul Gregorevic, Julien Ochala
OBJECTIVE: Nemaline myopathy, one of the most common congenital myopathies is associated with mutations in various genes including ACTA1. This disease is also characterised by various forms/degrees of muscle weakness with most cases being severe and resulting in death in infancy. Recent findings have provided valuable insight into the underlying pathophysiological mechanisms. Mutations in ACTA1 directly disrupt binding interactions between actin and myosin, and consequently the intrinsic force-generating capacity of muscle fibres...
February 17, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/26680771/dna-methylation-in-an-engineered-heart-tissue-model-of-cardiac-hypertrophy-common-signatures-and-effects-of-dna-methylation-inhibitors
#15
Justus Stenzig, Marc N Hirt, Alexandra Löser, Lena M Bartholdt, Jan-Tobias Hensel, Tessa R Werner, Mona Riemenschneider, Daniela Indenbirken, Thomas Guenther, Christian Müller, Norbert Hübner, Monika Stoll, Thomas Eschenhagen
DNA methylation affects transcriptional regulation and constitutes a drug target in cancer biology. In cardiac hypertrophy, DNA methylation may control the fetal gene program. We therefore investigated DNA methylation signatures and their dynamics in an in vitro model of cardiac hypertrophy based on engineered heart tissue (EHT). We exposed EHTs from neonatal rat cardiomyocytes to a 12-fold increased afterload (AE) or to phenylephrine (PE 20 µM) and compared DNA methylation signatures to control EHT by pull-down assay and DNA methylation microarray...
January 2016: Basic Research in Cardiology
https://www.readbyqxmd.com/read/26636516/expression-data-analysis-to-identify-key-target-genes-in-visceral-fat-tissue-associated-with-obstructive-sleep-apnea
#16
J H Chen, R Yang, Y P Wang, W Zhang
OBJECTIVE: The purpose of this study was to screen key genes related to mechanisms and consequences of obstructive sleep apnea (OSA)-induced perturbations in visceral fat tissue depots. MATERIALS AND METHODS: Microarray data of GSE38792, comprising 10 visceral fat samples from OSA patients and 8 visceral fat samples from control subjects, was obtained from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified in visceral fat samples from OSA patients compared with controls using Bioconductor package limma...
November 2015: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/26542170/scaffold-free-and-scaffold-assisted-3d-culture-enhances-differentiation-of-bone-marrow-stromal-cells
#17
Prasanna Vidyasekar, Pavithra Shyamsunder, Sanjeeb Kumar Sahoo, Rama Shanker Verma
3D cultures of stem cells can preserve differentiation potential or increase the efficiency of methods that induce differentiation. Mouse bone marrow-derived stromal cells (BMSCs) were cultured in 3D as scaffold-free spheroids or "mesoid bodies" (MBs) and as aggregates on poly(lactic) acid microspheres (MB/MS). 3D cultures demonstrated viable cells, interaction on multiple planes, altered cell morphology, and the formation of structures similar to epithelial cell bridges. Cell proliferation was limited in suspension cultures of MB and MB/MS; however, cells regained proliferative capacity when transferred to flat substrates of tissue culture plates (TCPs)...
February 2016: In Vitro Cellular & Developmental Biology. Animal
https://www.readbyqxmd.com/read/26535766/novel-ppar%C3%AE-modulator-ged-0507-34-levo-ameliorates-inflammation-driven-intestinal-fibrosis
#18
Silvia Speca, Christel Rousseaux, Caroline Dubuquoy, Florian Rieder, Antonella Vetuschi, Roberta Sferra, Ilaria Giusti, Benjamin Bertin, Laurent Dubuquoy, Eugenio Gaudio, Pierre Desreumaux, Giovanni Latella
BACKGROUND: Intestinal fibrosis is mainly associated with Crohn's disease and is defined as a progressive and excessive deposition of extracellular matrix components. No specific antifibrotic therapies are available. In this study, we evaluate the antifibrotic effect of a novel 5-ASA analog able to activate the peroxisome proliferator-activated receptor γ, named GED-0507-34 Levo. METHODS: Colonic fibrosis was induced in 110 C57BL/6 mice by 3 cycles of 2.5% (wt/vol) dextran sulfate sodium administration for 6 weeks...
February 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/26476088/association-between-acta1-candidate-gene-and-performance-organs-and-carcass-traits-in-broilers
#19
G C Venturini, N B Stafuzza, D F Cardoso, F Baldi, M C Ledur, J O Peixoto, L El Faro, D P Munari
This study investigates the genetic association of the SNP present in the ACTA1 gene with performance traits, organs and carcass of broilers to help marker-assisted selection of a paternal broiler line (TT) from EMBRAPA Swine and Poultry, Brazil. Genetic and phenotypic data of 1,400 broilers for 68 traits related to body performance, organ weights, weight of carcass parts, and yields as a percentage of organs and carcass parts were used. The maximum likelihood method, considering 4 analytical models, was used to analyze the genetic association between the SNP and these important economic traits...
December 2015: Poultry Science
https://www.readbyqxmd.com/read/26436962/use-of-whole-exome-sequencing-for-diagnosis-of-limb-girdle-muscular-dystrophy-outcomes-and-lessons-learned
#20
Roula Ghaoui, Sandra T Cooper, Monkol Lek, Kristi Jones, Alastair Corbett, Stephen W Reddel, Merrilee Needham, Christina Liang, Leigh B Waddell, Garth Nicholson, Gina O'Grady, Simranpreet Kaur, Royston Ong, Mark Davis, Carolyn M Sue, Nigel G Laing, Kathryn N North, Daniel G MacArthur, Nigel F Clarke
IMPORTANCE: To our knowledge, the efficacy of transferring next-generation sequencing from a research setting to neuromuscular clinics has never been evaluated. OBJECTIVE: To translate whole-exome sequencing (WES) to clinical practice for the genetic diagnosis of a large cohort of patients with limb-girdle muscular dystrophy (LGMD) for whom protein-based analyses and targeted Sanger sequencing failed to identify the genetic cause of their disorder. DESIGN, SETTING, AND PARTICIPANTS: We performed WES on 60 families with LGMDs (100 exomes)...
December 2015: JAMA Neurology
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