Genomes and Genes
Gene Symbol: MYL3
Description: myosin light chain 3
Alias: CMH8, MLC-lV/sb, MLC1SB, MLC1V, VLC1, VLCl, myosin light chain 3, CMLC1, cardiac myosin light chain 1, myosin light chain 1, slow-twitch muscle B/ventricular isoform, myosin, light chain 3, alkali; ventricular, skeletal, slow, myosin, light polypeptide 3, alkali; ventricular, skeletal, slow, ventricular myosin alkali light chain, ventricular myosin light chain 1, ventricular/slow twitch myosin alkali light chain
- Developmental regulation of myosin gene expression in mouse cardiac muscleG E Lyons
Department of Molecular Biology, Unité de Recherche Associée Centre national de la Recherche Scientifique 1148 Pasteur Institute, Paris, France
J Cell Biol 111:2427-36. 1990..the newly formed cardiac tube begins to express MHC alpha, MHC beta, MLC1 atrial (MLC1A), and MLC1 ventricular (MLC1V) gene transcripts at high levels throughout the myocardium...
- Differentially expressed proteins during fat accumulation in bovine skeletal muscleQiankun Zhang
Department of Agricultural Biotechnology, Research Institute for Agriculture and Life Sciences, Seoul National University, Seoul, 151 921, Republic of Korea
Meat Sci 86:814-20. 2010..D chain (ATP5H), and two down-regulated proteins with higher IMF scores, carbonic anhydrase 2 (CA2) and myosin light chain 3 (MYL3)...
- Intact lipid rafts regulate HIV-1 Tat protein-induced activation of the Rho signaling and upregulation of P-glycoprotein in brain endothelial cellsYu Zhong
Department of Neurosurgery, Molecular Neuroscience and Vascular Biology Laboratory, University of Kentucky Medical Center, Lexington, Kentucky 40536, USA
J Cereb Blood Flow Metab 30:522-33. 2010..The present data indicate the critical function of intact lipid rafts and the Rho signaling in HIV-1-mediated upregulation of P-gp and potential development of drug resistance in brain endothelial cells...
- Minigenes encoding N-terminal domains of human cardiac myosin light chain-1 improve heart function of transgenic ratsHannelore Haase
Max Delbruck Center for Molecular Medicine, Berlin, Germany
FASEB J 20:865-73. 2006..The positive inotropic effect of MLC-1 peptides occurred in the absence of a hypertrophic response. Thus, expression of N-terminal domains of MLC-1 represent a valuable tool for the treatment of the failing heart...
- Human ventricular/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal locationW L Fodor
Department of Biochemistry, Ohio State University, Columbus 43210
J Biol Chem 264:2143-9. 1989..Interestingly the corresponding mouse gene has been mapped to the distal region of mouse chromosome 9 which contains a conserved syntenic group of genes that map to the short arm of human chromosome 3...
- Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathyYue Zhao
Faculty of Environmental Science and Engineering, Kunming University of Science and Technology, Kunming 650500, P R China
Int J Mol Med 36:1479-86. 2015..The candidate genes that may cause DCM include MYBPC3, MYH6, MYH7, LMNA, TNNT2, TNNI3, MYPN, MYL3, TPM1, SCN5A, DES, ACTC1 and RBM20...
- A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compactionTao Tian
Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences, Peking Union Medical College, No 167 Beilishi Road, Beijing, 100037, People s Republic of China
Heart Vessels 30:258-64. 2015..from the peripheral blood of the index cases were screened for 10 sarcomeric genes, including MYH7, MYBPC3, MYL2, MYL3, MYH6, TNNC1, TNNT2, TNNI3, TPM1, and ACTC1...
- Biomarker panel of cardiac and skeletal muscle troponins, fatty acid binding protein 3 and myosin light chain 3 for the accurate diagnosis of cardiotoxicity and musculoskeletal toxicity in ratsYutaka Tonomura
Drug Safety Evaluation, Drug Developmental Research Laboratories, Shionogi and Co, Ltd, Osaka, Japan
Toxicology 302:179-89. 2012..cardiac and skeletal muscle troponins (cTnI, cTnT and sTnI), fatty acid binding protein 3 (FABP3) and myosin light chain 3 (MYL3), and compared the obtained data to AST, LDH and CK in rat models treated with various myotoxic and ..
- Evaluation of the Relative Performance of Drug-Induced Skeletal Muscle Injury Biomarkers in RatsPeter M Burch
Pfizer, Inc Worldwide Research and Discovery, Groton, Connecticut 06340
Toxicol Sci 150:247-56. 2016..The relative performance of these novel biomarkers of SKM injury including skeletal troponin I (sTnI), myosin light chain 3 (Myl3), CK M Isoform (Ckm), and fatty acid binding protein 3 (Fabp3) was assessed in 34 rat studies ..
- Evaluation of microRNAs-208 and 133a/b as differential biomarkers of acute cardiac and skeletal muscle toxicity in ratsJacqueline Calvano
Drug Safety Evaluation, Bristol Myers Squibb, 1 Squibb Drive, New Brunswick, NJ 08903, United States Electronic address
Toxicol Appl Pharmacol 312:53-60. 2016..ISO, MET and AAM induced increases in MyL3 and skeletal muscle troponin (sTnl) (SKM biomarkers)...
- Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM systemYue Zhao
Faculty of Life Science and Technology, Research Center for Molecular Medicine in Yunnan Province, Kunming University of Science and Technology, Kunming, Yunnan 650500, P R China
Int J Mol Med 37:1511-20. 2016..myosin, heavy chain 6, cardiac muscle, α (MYH6); myosin, light chain 3, alkali, ventricular, skeletal, slow (MYL3); and protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2)] in 8 patients with dilated ..
- Trypanocidal, trichomonacidal and cytotoxic components of cultivated Artemisia absinthium Linnaeus (Asteraceae) essential oilRafael Alberto Martínez-Díaz
Departamento de Medicina Preventiva, Salud Pública y Microbiología, Facultad de Medicina, Universidad Autonoma de Madrid, Madrid, ES
Mem Inst Oswaldo Cruz 110:693-9. 2015..The chromatographic fractionation of the VP T2-11 resulted in nine fractions (VLC1-9)...
- Comprehensive analysis of the whole transcriptomes from two different pig breeds using RNA-Seq methodKatarzyna Ropka-Molik
Laboratory of Genomics, National Research Institute of Animal Production, Krakowska 1, 32 083, Balice, Poland
Anim Genet 45:674-84. 2014..proteins involved in muscle contraction, calcium-mediated signaling or cation transport (CASQ1, MLC2V, SLC25A4, MYL3)...
- Targeted inactivation of Cerberus like-2 leads to left ventricular cardiac hyperplasia and systolic dysfunction in the mouseAna Carolina Araújo
Laboratory of Embryology and Genetic Manipulation, Regenerative Medicine Program, Departamento de Ciências Biomédicas e Medicina, Universidade do Algarve, Campus de Gambelas, Faro, Portugal IBB Institute for Biotechnology and Bioengineering, Centro de Biomedicina Molecular e Estrutural, Universidade do Algarve, Campus de Gambelas, Faro, Portugal PhD Program in Biomedical Sciences, Universidade do Algarve, Campus de Gambelas, Faro, Portugal
PLoS ONE 9:e102716. 2014..Neonatal mutants obtained from the compound mouse line Cer2-/-::Mlc1v-nLacZ24+, in which the pulmonary ventricle is genetically marked, revealed a massive enlargement of the ..
- Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencingJuan Gomez
Molecular Genetics Dept Laboratory of Medicine Renal Foundation IRSIN FRIAT, Hospital Central Asturias
Circ J 78:2963-71. 2014..METHODS AND RESULTS: Multiplex amplification of the coding exons of MYH7,MYBPC3,TNNT2,TNNI3,ACTC1,TNNC1,MYL2,MYL3, and TPM1 was designated, followed by NGS with the Ion Torrent PGM (Life Technologies)...
- Proteomic analysis of human fetal atria and ventricleZhen Qi Lu
Department of Physiology, Medical Biophysics, Faculty of Medicine, and Heart and Stroke Richard Lewar Centre of Excellent for Cardiovascular Research, University of Toronto, Toronto, Ontario, Canada
J Proteome Res 13:5869-78. 2014..alpha-amidating monooxygenase (PAM) for atria, and ventricular isoforms of myosin light chains (MYL2 and MYL3), myosin heavy chain 7 (MYH7), and connexin 43 (GJA1) for ventricle...
- Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasiaO Campuzano
Cardiovascular Genetics Center, University of Girona IdIBGi, C Pic de Peguera 11, 17003 Girona, Spain
Eur J Med Genet 55:225-34. 2012..1-, Cx43 or GJA1 -gap junction protein alpha 1-, MVCL -Metavinculin-, MYL2 -myosin light chain 2- and MYL3 -myosin light chain 3-) by direct sequencing analysis. Our genetic analysis did not identify any disease-causing mutation...
- A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivityPaal Skytt Andersen
Department of Clinical Biochemistry and Immunology, Statens Serum Institut, 2300S Copenhagen, Denmark
Biochem Res Int 2012:685108. 2012Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death...
- Evaluation of Cardiac Toxicity Biomarkers in Rats from Different LaboratoriesKyuri Kim
SRI International, Menlo Park, California, USA
Toxicol Pathol . 2016..pro-brain natriuretic peptide [NT-proBNP]), cardiac and skeletal troponins (cTnI, cTnT, and sTnI), myosin light chain 3 (Myl3), and fatty acid binding protein 3 (FABP3) were assessed in rats treated with minoxidil (MNX) and ..
- Studies on RNA integrity and gene expression in human myocardial tissue, pericardial fluid and blood, and its postmortem stabilityLucas González-Herrera
Department of Forensic Medicine, Faculty of Medicine, University of Granada, Av de Madrid 11, 18071 Granada, Spain Electronic address
Forensic Sci Int 232:218-28. 2013..Gene expression of cardiac troponin I (TNNI3), myosin light chain 3 (MYL3), matrix metalloprotease 9 (MMP9), transforming growth factor beta 1 (TGFB1), and vascular ..
- P400Effects of a sucrose-enriched diet on the pattern of gene expression, contraction and Ca2+ transport in Goto-Kakizaki type 2 diabetic rat heartFc Howarth
United Arab Emirates University, Physiology, Al Ain, United Arab Emirates
Cardiovasc Res 103:S74. 2014..Genes encoding cardiac muscle proteins (Myh7, Mybpc3, Myl1, Myl3, Mylpf), intercellular proteins (Gja4), cell membrane transport (Atp1b1), calcium channels (Cacna1c, Cacna1g, ..
- Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathyElena Biagini
Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, Alma Mater Studiorum, Universita di Bologna, Italy Electronic address
Am J Cardiol 114:769-76. 2014..Sequencing analysis of 8 sarcomere genes (MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, and ACTC1) and 2 metabolic genes (PRKAG2 and LAMP2) was performed in 156 ES-HC patients with left ventricular (LV) ..
- A minimal dose of electrically induced muscle activity regulates distinct gene signaling pathways in humans with spinal cord injuryMichael A Petrie
Department of Physical Therapy and Rehabilitation Science, Carver College of Medicine, The University of Iowa, Iowa City, Iowa, United States of America
PLoS ONE 9:e115791. 2014..SDHB, ACADVL), mitochondrial fission and fusion genes (MFF, MFN1, MFN2), and slow muscle fiber genes (MYH6, MYH7, MYL3, MYL2)...
- Mertk deficiency alters expression of micrornas in the retinal pigment epithelium cellsYong Tang
Faculty of Basic Medical Science, Capital Medical University, Beijing, 100069, China
Metab Brain Dis 30:943-50. 2015..of the 21 up-regulated miRNAs can theoretically recognize these down-regulated mRNAs, particularly MyH14 and Myl3. This study shows that loss of Mertk alters miRNA expression, which in turn affects expression of the downstream ..
- Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCMDeepa Selvi Rani
1 CSIR Centre for Cellular and Molecular Biology CCMB, Hyderabad, Telangana, India
DNA Cell Biol 34:350-9. 2015..and the family members positive for S215L were further screened for variations in MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, and ACTC...
- Comparative transcriptome analysis of atrial septal defect identifies dysregulated genes during heart septum morphogenesisWenju Wang
Yan an Affiliated Hospital of Kunming Medical University, Kunming 650051, Yunnan, People s Republic of China Kunming Yan an Hospital, Kunming 650051, Yunnan, People s Republic of China Institute of Cardiovascular Surgery of Yunnan Province, Kunming 650051, Yunnan, People s Republic of China
Gene 575:303-12. 2016..factors (GATA4 and NKX2-5), extracellular signal molecules (VEGFA and BMP10) and cardiac sarcomeric proteins (MYL2, MYL3, MYH7, TNNT1 and TNNT3) were downregulated in ASD which may affect heart atrial septum formation, cardiomyocyte ..
- Molecular cloning and mRNA expression analysis of sheep MYL3 and MYL4 genesChunlan Zhang
College of Biological and Agricultural Engineering, Weifang University, Key Laboratory of Biochemistry and Molecular Biology in Universities of Shandong, Weifang 261061, China Delisi group, Weifang 262216, China Electronic address
Gene 577:209-14. 2016..longissimus dorsi muscles of Dorper sheep as the experimental materials, the complete cDNAs of ovine MYL3 (Myosin light chain 3) and MYL4 (Myosin light chain 4) genes were cloned using RT-PCR, 5' RACE and 3' RACE...
- Transcriptional analysis of atrial and ventricular muscles from ratsY Zhi
Nanjing University of Chinese Medicine, Xianlin University, Nanjing, Jiangsu Province, China
Genet Mol Res 15:. 2016..The genes highly expressed in the ventricular myocytes were associated with muscle contraction (e.g., Myl1, Myl2, Myl3, and Myh7) and energy production (e.g...
- Biomarker evaluation of skeletal muscle toxicity following clofibrate administration in ratsKaren Bodié
AbbVie Deutschland GmbH and Co KG, Preclinical Safety, d 67061 Ludwigshafen, Germany Electronic address
Exp Toxicol Pathol 68:289-99. 2016..kinase (CK) enzyme activity were compared to novel biomarkers fatty acid binding protein 3 (Fabp3), myosin light chain 3 (Myl3), muscular isoform of CK immunoreactivity (three isoforms CKBB, CKMM, CKMB), parvalbumin (Prv), ..
- A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian CohortSperanza Rubattu
Department of Clinical and Molecular Medicine, School of Medicine and Psychology, University Sapienza of Rome, 00185 Rome, Italy
Int J Mol Sci 17:. 2016..5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22...
- The FgfrL1 receptor is required for development of slow muscle fibersRuth Amann
Department of Clinical Research, University of Bern, 3010 Bern, Switzerland
Dev Biol 394:228-41. 2014..5 as indicated by the absence of slow fiber markers Myh7, Myl2 and Myl3. Similar lesions are also found in other skeletal muscles that contain a high proportion of slow fibers at birth, ..
- The myosin alkali light chains of mouse ventricular and slow skeletal muscle are indistinguishable and are encoded by the same geneP J Barton
J Biol Chem 260:8578-84. 1985..a cDNA recombinant plasmid (pA29) identified as encoding part of the ventricular muscle myosin light chain MLC1v. This cDNA contains a 300-base pair fragment which under conditions of moderate stringency shows specific ..
- Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutationAllison Jay
Division of Genetic and Metabolic Disorders, Department of Pediatrics, Children s Hospital of Michigan, Detroit, Michigan 48201, USA
Cardiology 124:248-51. 2013..with severe progressive HCM arising from a mutation in the gene encoding the essential light chain of myosin (MYL3). The patient was found to have a novel, paternally inherited pathogenic c...
- Role of the cytoskeleton in muscle transcriptional responses to altered useGretchen A Meyer
Department of Bioengineering, University of California, San Diego, CA, USA
Physiol Genomics 45:321-31. 2013..the interaction between aging and the absence of desmin, including many genes related to slow fiber pathway (Myh7, Myl3, Atp2a2, and Casq2) and insulin sensitivity (Tlr4, Trib3, Pdk3, and Pdk4)...
- High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis deviceHuijun Tian
Department of Chemistry, University of California Berkeley, Berkeley, CA 94720, USA
Electrophoresis 26:1834-42. 2005..Using 5% PDMA containing 10% glycerol and 15% urea, 21 single-nucleotide polymorphisms (SNPs) from HFE, MYL2, MYL3, and MYH7 genes associated with hereditary hemochromatosis (HHC) and hereditary hypertrophic cardiomyopathy (HCM) ..
- Proteomic analysis of fast and slow muscles from normal and kyphoscoliotic mice using protein arrays, 2-DE and MSMarie Catherine Le Bihan
Division Basic Medical Sciences, St George s, University of London, UK
Proteomics 6:4646-61. 2006..to identify a panel of fast muscle protein markers: MLC1F, MLC3F, fast troponin C (STNC) and slow muscle markers: MLC1SB and MLC2v...
- Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathyHaruna Otsuka
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Japan
Circ J 76:453-61. 2012..Although there are several reports on the systematic screening of mutations in the disease-causing genes in European and American populations, only limited information is available for Asian populations, including Japanese...
- Isolation and analysis of genes mainly expressed in adult mouse heart using subtractive hybridization cDNA libraryEvrim Komurcu-Bayrak
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Vakif Gureba cad, 34080 Sehremini, Istanbul, Turkey
Mol Biol Rep 39:8065-74. 2012..In Northern blot analyses, the expression levels of Myl3, Myl2, Mfn2, Dcn, Pdlim4, mt-Co3, mt-Co1, Atpase6 and Tsc22d1 genes were higher in heart than skm...
- Discovery of novel vitamin D receptor interacting proteins that modulate 1,25-dihydroxyvitamin D3 signalingPamela A Marshall
Division of Mathematical and Natural Sciences, Arizona State University, Glendale, AZ 85306, United States
J Steroid Biochem Mol Biol 132:147-59. 2012..These novel VIPs include CXXC5, FASTK, NR4A1, TPM2, MYL3 and XIRP1...
- Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defectsMaximilian G Posch
Department of Cardiothoracic and Vascular Surgery, Deutsches Herzzentrum Berlin, Berlin, Germany
PLoS ONE 6:e28872. 2011..inherited ASDII, we analyzed 13 sarcomeric genes (MYH7, MYBPC3, TNNT2, TCAP, TNNI3, MYH6, TPM1, MYL2, CSRP3, ACTC1, MYL3, TNNC1, and TTN kinase region) in 31 patients with familial ASDII using array-based resequencing...
- Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathyColleen Caleshu
Stanford Center for Inherited Cardiovascular Disease, Stanford University Medical Center, Stanford, California 94305, USA
Am J Med Genet A 155:2229-35. 2011..Sequencing of sarcomere genes revealed previously reported homozygous p.Glu143Lys mutations in MYL3, and a novel heterozygous p.Gly57Glu mutation in MYL2...
- Hypoxia promotes proliferation of human myogenic satellite cells: a potential benefactor in tissue engineering of skeletal muscleMerel Koning
Department of Plastic Surgery, University of Groningen, Groningen, The Netherlands
Tissue Eng Part A 17:1747-58. 2011..Moreover, gene expression of structural proteins α-sarcomeric actin, and myosins MYL1 and MYL3 was upregulated by hypoxia during differentiation. This indicates that hypoxia promotes a promyogenic shift in SC...
- Serotonin transporter, sex, and hypoxia: microarray analysis in the pulmonary arteries of mice identifies genes with relevance to human PAHKevin White
Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK
Physiol Genomics 43:417-37. 2011..We selected 10 genes of interest for qRT-PCR analysis (FOS, CEBPβ, CYP1B1, MYL3, HAMP2, LTF, PLN, NPPA, UCP1, and C1S), and 100% concordance was reported...
- Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practiceSiv Fokstuen
Genetic Medicine, Centre Medical Universitaire, 1 rue Michel Servet, Geneva, Switzerland
J Med Genet 48:572-6. 2011..However, the remarkable genetic and allelic heterogeneity makes molecular analysis by conventional methods very time-consuming, expensive and difficult to realise in a routine diagnostic molecular laboratory...
- Icariin induces mouse embryonic stem cell differentiation into beating functional cardiomyocytesXiaodong Sun
Department of Histology and Embryology, Harbin Medical University, Nangang District, Harbin, Heilongjiang, China
Mol Cell Biochem 349:117-23. 2011..Cardiomyocytes induced by icariin treatment expressed the cardiac-specific proteins myosin light chain-1v (MLC1v), atrial natriuretic polypeptide (ANP), and cardiac troponin I (cTnI)...
- Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden deathBo Chang
Department of Pediatrics, University of Toyama, 2630 Sugitani, Toyama, Japan
Mol Genet Metab 102:200-6. 2011..for variants in other sarcomeric protein-encoding candidate genes, MYH7, MYBPC3, TNNT2, TNNI3, ACTC, MYL2, and MYL3, did not identify any other non-synonymous variants or variants in splice donor-acceptor sequences that were ..
- Meta-analysis of genome-wide gene expression differences in onset and maintenance phases of genetic hypertensionFrancine Z Marques
Basic and Clinical Genomics Laboratory, School of Medical Sciences and Bosch Institute, University of Sydney, Sydney, New South Wales, Australia
Hypertension 56:319-24. 2010..Genes having possible relevance to hypertension onset included Actn2, Ankrd1, ApoE, Cd36, Csrp3, Me1, Myl3, Nppa, Nppb, Pln, Postn, Spp1, Slc21a4, Slc22a2, Thbs4, and Tnni3...
- PPARalpha does not suppress muscle-associated gene expression in brown adipocytes but does influence expression of factors that fingerprint the brown adipocyteTomas B Walden
The Wenner Gren Institute, The Arrhenius Laboratories F3, Stockholm University, SE 106 91 Stockholm, Sweden
Biochem Biophys Res Commun 397:146-51. 2010..in brown adipose tissue and brown adipocytes from PPARalpha-ablated mice, including structural genes (Mylpf, Tpm2, Myl3 and MyHC), regulatory genes (myogenin, Myf5 and MyoD) and a myomir (miR-206)...
- Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutationsFrancesca Girolami
Unit for Genetic Diagnosis, Careggi University Hospital, Florence, Italy
J Am Coll Cardiol 55:1444-53. 2010..The aim of this study was to describe the clinical profile associated with triple sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort...
- Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathyJuan Pablo Kaski
Inherited Cardiovascular Diseases Unit, Institute of Child Health, University College London, London, United Kingdom
Circ Cardiovasc Genet 2:436-41. 2009..Familial disease caused by mutations in cardiac sarcomere protein genes, which accounts for most cases in adolescents and adults, is believed to be a very rare cause of HCM...
- Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragmNelson LopezJimenez
Division of Genetics, Department of Pediatrics, University of California, 533 Parnassus St, Room U585P, San Francisco, CA 94143 0748, USA
Hum Genet 127:325-36. 2010..004), Myl2, Lrtm1, Myh4, Myl3, Myh7 and Hephl1...
- Increased throughput for low-abundance protein biomarker verification by liquid chromatography/tandem mass spectrometryMichael Berna
Eli Lilly and Company, Drug Disposition Biomarker Group, Lilly Corporate Center, Indianapolis, Indiana 46285, USA
Anal Chem 81:3950-6. 2009..application to previously published LC/MS/MS protein assays from our laboratory for two cardiotoxicity biomarkers, Myl3 and NTproBNP...
- The widespread distribution of alpha-N-trimethylalanine as the N-terminal amino acid of light chains from vertebrate striated muscle myosinsG D Henry
Eur J Biochem 148:75-82. 1985..1981) Eur. J. Biochem. 121, 213-219]. In particular, a marked reduction in the segmental mobility of the N-terminal region of the alkali light chain was noted, consistent with a direct interaction of this area with actin...
- Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathyZhyldyz T Kabaeva
Charité Kardiologie, Campus Buch und Virchow Klinikum, Humboldt Universitat zu Berlin, Germany
Eur J Hum Genet 10:741-8. 2002..unrelated individuals with HCM for the human ventricular myosin regulatory (MYL2) and essential light chain genes (MYL3) using polymerase chain reaction, single strand conformation polymorphism analysis and automated sequencing...
- Essential myosin light chain as a target for caspase-3 in failing myocardiumAlessandra Moretti
I Medizinische Klinik and Deutsches Herzzentrum, D 81675 Munich, Germany
Proc Natl Acad Sci U S A 99:11860-5. 2002..Therefore, activation of apoptotic pathways in the heart may lead to contractile dysfunction before cell death...
- Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiologyTimothy M Olson
Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
Circulation 105:2337-40. 2002..Autosomal dominant hypertrophic cardiomyopathy (HCM) is caused by inherited defects of sarcomeric proteins. We tested the hypothesis that homozygosity for a sarcomeric protein defect can cause recessive HCM...
- Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populationsP S Andersen
J Med Genet 38:E43. 2001
- Localization of 17-kDa myosin light chain isoforms in cultured aortic smooth muscle cellsK Takeuchi
Osaka Prefectural College of Health Science, Habikino, Osaka, 583 0872, Japan
J Biochem 125:334-42. 1999..These results support the suggestion that myosin containing LC17gi is essential for force-generation by aortic smooth muscle and that myosin containing LC17nm may play an important role in maintaining smooth muscle tension...
- Modulation of contractility in human cardiac hypertrophy by myosin essential light chain isoformsM C Schaub
Institute of Pharmacology, University of Zurich, Switzerland
Cardiovasc Res 37:381-404. 1998..expression of the atrial myosin essential light chain (ALC1) partially replaces the endogenous ventricular isoform (VLC1)...
- Role of the nerve in determining fetal skeletal muscle phenotypeC H Washabaugh
Department of Cell Biology and Physiology, University of Pittsburgh School of Medicine, Pennsylvania 15261, USA
Dev Dyn 211:177-90. 1998..suggest that: (1) the absence of the nerve to either future fast or slow muscles results in less accumulation of MLC1V transcript...
- The intracompartmental sorting of myosin alkali light chain isoproteins reflects the sequence of developmental expression as determined by double epitope-tagging competitionM Komiyama
Institute for Cell Biology, Swiss Federal Institute of Technology, Zurich, Switzerland
J Cell Sci 109:2089-99. 1996..sorting specificity of MLC isoforms to sarcomeric sites was shown to increase in the order MLC3nm, to ML1sa, to MLC1sb, to MLC1f and MLC3f following the sequence of developmental expression...
- Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscleK Poetter
Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
Nat Genet 13:63-9. 1996....
- Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomesZ Pausova
Calcium Research Laboratory, McGill University, Montreal, Quebec, Canada
Genomics 20:20-6. 1994..These three chromosomes share the transferrin gene (TF), the myosin light polypeptide 3 gene (MYL3), and the acylpeptide hydrolase gene (APEH)...
- The major protein expression profile and two-dimensional protein database of human heartL I Kovalyov
Research Center of Medical Genetics, Russian Academy of Medical Sciences, Moscow
Electrophoresis 16:1160-9. 1995..Each protein was characterized according to several parameters, including molecular weight, isoelectric point, name, partial sequence, subcellular localization, and genetic as well as embryonic changes...
- High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the methodPaal Skytt Andersen
Department of Clinical Biochemistry, Statens Serum Institut, Copenhagen, Denmark
Hum Mutat 21:116-22. 2003..CAE-SSCP by 1) comparing detection by slab-gel based SSCP with CAE-SSCP of mutations in the MYH7, MYL2, and MYL3 genes encoding sarcomere proteins from patients suffering from hypertrophic cardiomyopathy; and 2) by constructing ..
- Molecular cloning and characterization of human atrial and ventricular myosin alkali light chain cDNA clonesM Kurabayashi
Third Department of Internal Medicine, University of Tokyo, Japan
J Biol Chem 263:13930-6. 1988We have isolated essentially full-length cDNA clones for atrial (ALC1) and ventricular (VLC1) myosin alkali light chains from a human fetal heart cDNA library...
- Molecular cloning and complete nucleotide sequence of a human ventricular myosin light chain 1E Hoffmann
Department of Clinical Biochemistry, University of Toronto, Edmonton, Canada
Nucleic Acids Res 16:2353. 1988
- Promoter analysis of myosin alkali light chain genes expressed in mouse striated muscleA Cohen
Departement de Biologie Moleculaire, Institut Pasteur, Paris, France
Nucleic Acids Res 16:10037-52. 1988..The skeletal muscle gene MLC1F/MLC3F, the ventricular muscle/slow skeletal muscle gene MLC1V(MLC1S), and the atrial muscle/foetal striated muscle gene MLC1A(MLC1emb)...
- Structure and sequence of the myosin alkali light chain gene expressed in adult cardiac atria and fetal striated muscleP J Barton
Departement de Biologie Moleculaire, Institut Pasteur, Paris, France
J Biol Chem 263:12669-76. 1988..two myosin alkali light chains which are the major isoforms present in either atrial (MLC1A) or ventricular (MLC1V) muscle, and which are different from the fast skeletal muscle isoforms (MLC1F and MLC3F)...
- Characterization of a rat myosin alkali light chain gene expressed in ventricular and slow twitch skeletal musclesM Periasamy
Department of Physiology and Biophysics, University of Vermont College of Medicine, Burlington 05405
Nucleic Acids Res 17:7723-34. 1989..contains two myosin alkali light chains: 1) the atrial light chain (MLC1A), and 2) the ventricular light chain (MLC1V) predominantly expressed either in the atrium or in the ventricle...
- Chromosomal assignment of two myosin alkali light-chain genes encoding the ventricular/slow skeletal muscle isoform and the atrial/fetal muscle isoform (MYL3, MYL4)O Cohen-Haguenauer
Unité de Recherches de Génétique Médicale INSERM U 12, Clinique Maurice Lamy, Hopital des Enfants Malades, Paris, France
Hum Genet 81:278-82. 1989..of two loci encoding the ventricular muscle isoform MLC1V (equivalent to the slow skeletal muscle isoform MLC1Sb) and the atrial muscle isoform MLC1A (equivalent to the fetal isoform MLC1emb) using a panel of 25 independent man-..
- Chromosomal rearrangement generating a composite gene for a developmental transcription factorP Stragier
Department of Cellular and Developmental Biology, Harvard University, Cambridge, MA 02138
Science 243:507-12. 1989....
- The expression of myosin genes in developing skeletal muscle in the mouse embryoG E Lyons
Department of Molecular Biology, U R A CNRS 1148, Pasteur Institute, Paris, France
J Cell Biol 111:1465-76. 1990..5 d p.c., MLC1F is the predominant MLC transcript detected. Transcripts for the ventricular/slow (MLC1V) and another fast skeletal myosin light chain (MLC3F) are not detected in skeletal muscle before 15 d p.c...
- Asparaginyl deamidation-methylation of rat ventricular myosin light chainsE M Cassidy
Department of Medicine, Loyola University Stritch School of Medicine, Maywood, IL 60153
J Mol Cell Cardiol 23:589-601. 1991..To test if myofibrillar proteins are subject to spontaneous deamidation damage in vitro, purified rat ventricular myosin light chain 1 (MLC1v) and phosphorylatable myosin light chain 2 (MPLC2v) were incubated (37 degrees C, 4 h, pH 2-11)..
- Strategic use of immunoprecipitation and LC/MS/MS for trace-level protein quantification: myosin light chain 1, a biomarker of cardiac necrosisMichael J Berna
Lilly Research Laboratories, Eli Lilly and Company, Greenfield, Indiana 46140, USA
Anal Chem 79:4199-205. 2007Myosin light chain 1 (Myl3) is a 23-kDa isoform of one of the subunits of myosin, a protein involved in muscle contraction...
- The mRNA expression of SETD2 in human breast cancer: correlation with clinico-pathological parametersW Al Sarakbi
St George s University of London, London, UK
BMC Cancer 9:290. 2009..This region includes closely related genes namely: MYL3, CCDC12, KIF9, KLHL18 and SETD2...
- Analysis of the upstream regulatory region of human ventricular myosin light chain 1 geneQ Shi
Toronto Hospital General Division, Ontario, Canada
J Mol Cell Cardiol 24:1221-9. 1992To explore the mechanisms regulating expression of ventricular myosin light chain 1, the human gene including 5'-flanking DNA was cloned and characterized by Southern blot and restriction mapping...
- The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathyDaniel Vega Møller
Department of Cardiology, Rigshospitalet, University of Copenhagen, Denmark
Eur J Hum Genet 17:1241-9. 2009..subsequently by bidirectional DNA sequencing of conformers in the coding regions of MYH7, MYBPC3, TPM1, ACTC, MYL2, MYL3, TNNT2, CSRP3 and TNNI3. Eight probands carried disease-associated genetic variants (26%)...
- Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relativesPaal Skytt Andersen
Department of Clinical Biochemistry, Statens Serum Institute, Copenhagen, Denmark
Hum Mutat 30:363-70. 2009..Index patients were screened for mutations in all coding regions of 10 sarcomere genes (MYH7, MYL3, MYBPC3, TNNI3, TNNT2, TPM1, ACTC, CSRP3, TCAP, and TNNC1) and five exons of TTN...
- Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heartZhiyv Niu
Center for Cardiovascular Development, Section of Cardiovascular Sciences, Baylor College of Medicine, Houston, TX 77030, USA
Proc Natl Acad Sci U S A 105:17824-9. 2008..The appearance of Hand1 and Smyd1, transcription and chromatin remodeling factors; Acta1, Acta2, Myl3, and Myom1, myofibril proteins; and calcium-activated potassium-channel gene activity (KCNMB1), the channel protein,..
- [An experimental study of the role of myosin light chain in myogenesis in vitro]Suzhen Zhang
School of Life Science, Sichuan University, Chengdu Sichuan, 610041, P R China
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi 22:753-8. 2008..To investigate the role of myosin light chain (Myl) in myogenesis in vitro...
- Relationship between sex, shape, and substrate in hypertrophic cardiomyopathyJ Martijn Bos
Department of Internal Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
Am Heart J 155:1128-34. 2008..We sought to evaluate the influence of sex on the HCM phenotype in a large cohort of unrelated patients with genetically and morphologically classified HCM...
- A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathySiv Fokstuen
Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
Hum Mutat 29:879-85. 2008..and 5'UTR regions of 12 genes that have been clearly implicated in HCM (MYH7, MYBPC3, TNNT2, TPM1, TNNI3, MYL3, MYL2, CSRP3, PLN, ACTC, TNNC1, and PRKAG2)...
- Shared genetic causes of cardiac hypertrophy in children and adultsHiroyuki Morita
Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
N Engl J Med 358:1899-908. 2008..Despite morphologic similarities to genetic cardiomyopathies of adulthood, the contribution of genetics to childhood-onset hypertrophy is unknown...
- Retinoic acid deficiency alters second heart field formationLucile Ryckebusch
Developmental Biology Institute of Marseille Luminy, Centre National de la Recherche Scientifique Unité Mixte de Recherche 6216, Campus de Luminy Case 907, 13009 Marseille, France
Proc Natl Acad Sci U S A 105:2913-8. 2008..Raldh2(-/-) embryos exhibited a posterior expansion of anterior markers of the SHF, including Tbx1, Fgf8, and the Mlc1v-nlacZ-24/Fgf10 reporter transgene as well as of Islet1...
- Modulation of muscle contraction by a cell-permeable peptideGisela Tunnemann
Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125, Berlin, Germany
J Mol Med (Berl) 85:1405-12. 2007....
- Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutationsChristopher J McLeod
Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
Am Heart J 158:799-805. 2009..The presence of cardiac myofilament and mutations and RAAS polymorphisms will have a strong association with the severity of histologic features of HC and characteristic septal shape...
- Multiple isoforms of myosin light chain 1 in pig diaphragm slow fibers: correlation with maximal shortening velocity and force generationPeter J Reiser
Oral Biology, Ohio State University, Columbus, OH 43210, USA
Arch Biochem Biophys 456:112-8. 2006..expression, with many expressing fast-type MLC1 (MLC1F), as well as two isoforms of slow-type MLC1 (MLC1Sa and MLC1Sb)...
- Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart StudyHiroyuki Morita
The Program in Genomics Applications CardioGenomics Group Department of Genetics, NRB Room 256, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
Circulation 113:2697-705. 2006....
- Left and right ventricular contributions to the formation of the interventricular septum in the mouse heartDiego Franco
Department of Experimental Biology, Faculty of Experimental Sciences, University of Jaen, 23071 Jaen, Spain
Dev Biol 294:366-75. 2006..mouse lines that display complementary nlacZ reporter gene expression patterns in the embryonic ventricles: the Mlc1v-nlacZ-24 transgene is expressed in right ventricular myocardium and the Mlc3f-nlacZ-2 transgene in left ..
- Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counsellingJ Ingles
J Med Genet 42:e59. 2005..To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM)...
- The MLC1v gene provides a transgenic marker of myocardium formation within developing chambers of the Xenopus heartStuart J Smith
Division of Developmental Biology, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, United Kingdom
Dev Dyn 232:1003-12. 2005..To achieve this end, we have used the active promoter of the MLC1v gene to drive expression of green fluorescent protein (GFP) in the developing tadpole heart...
- Identification of direct serum-response factor gene targets during Me2SO-induced P19 cardiac cell differentiationShu Xing Zhang
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
J Biol Chem 280:19115-26. 2005..The 12 regulated SRF target genes, Mapk10 (JNK3), Txnl2, Azi2, Tera, Sema3a, Lrp4, Actc1, Myl3, Hspg2, Pgm2, Hif3a, and Asb5, have been implicated in cardiovascular formation, and the Ski and Hes6 genes have ..
- [Familial hypertrophic cardiomyopathy: genes, mutations and animal models. A review]Carlos Darío Ramírez
Departamento de Biología Estructural, Instituto Venezolano de Investigaciones Cientificas IVIC, Universidad Central de Venezuela, Caracas, Venezuela
Invest Clin 45:69-99. 2004..TPM1), myosin binding protein-C (MYBPC3), cardiac troponin (TNNI3), essential and regulatory light chain genes (MYL3 and MYL2, respectively), cardiac alpha-actin gene (ACTC) and titin (TTN)...
- The functional domains of human ventricular myosin light chain 1Baotong Xie
Key Laboratory of Proteomics, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai 200031, PR China
Biophys Chem 106:57-66. 2003..We conclude that the N-fragment is the binding domain of human ventricular LC1, whereas the C-fragment serves as a functional domain, which may be more involved in the modulation of the actin-activated ATPase activity of myosin...
- [The mouse as a model for heart morphogenesis in mammals: the origin of myocytes and studies with cardiac explants]Stephane Zaffran
CNRS URA 2578, Departement de Biologie du Developpement, Institut Pasteur, 25, rue du Dr Roux, Paris, 75015 France
J Soc Biol 197:187-94. 2003..The study of transgenic mouse lines, Mlc1v-nlacZ-24 and Mlc3f-nlacZ-2, has led to the identification of a new precardiac territory, the anterior heart field, ..
- Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategyPascale Richard
UF de Cardiogénétique et Myogénétique, Service de Biochimie B, Hopital de la Salpetriere, 47 Bld de l Hopital, 75651 Paris Cedex 13, France
Circulation 107:2227-32. 2003..The aim of the present study was to perform a systematic screening of these genes in a large population, to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice...
- Identification of Disease Genes for Atrial FibrillationTimothy Olson; Fiscal Year: 2009..The long-term objectives of this work are to gain new insights into molecular mechanisms of arrhythmogenesis and to improve prediction, prevention, and treatment of AF. ..