Genomes and Genes
Gene Symbol: MYL3
Description: myosin, light chain 3, alkali; ventricular, skeletal, slow
Alias: CMH8, MLC1SB, MLC1V, VLC1, CMLC1, cardiac myosin light chain 1, myosin light chain 1, slow-twitch muscle B/ventricular isoform, myosin light chain 3, myosin, light polypeptide 3, alkali; ventricular, skeletal, slow, 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)...
- 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...
- 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...
- 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...
- 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...
- 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,..
- 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...
- 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%)...
- 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...
- [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....
- 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...
- 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)...
- 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...
- 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...
- 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...
- 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 ..
- 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...
- 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...
- 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..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), and tested as ..
- 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...
- 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...
- Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counsellingJ Ingles
J Med Genet 42:e59. 2005..METHODS: Genetic screening of seven HCM genes (beta-MHC, MyBP-C, cTnT, cTnI, ACTC, MYL2, and MYL3) was undertaken in 80 unrelated probands...
- 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...
- 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 ..
- 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)...
- 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. 1992..But this mechanism remains to be established...
- 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. ..
- Mapping Novel Disease Genes for Dilated CardiomyopathyTimothy Olson; Fiscal Year: 2007..Discovering the genetic basis of DCM will lead to better ways to diagnose and prevent the progressive weakening of heart muscle that afflicts patients with this disorder. ..
- Identification of Disease Genes for Atrial FibrillationTimothy Olson; Fiscal Year: 2007..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. ..
- Mapping Novel Disease Genes for Dilated CardiomyopathyTimothy Olson; Fiscal Year: 2004..The long-term objectives of this work are to gain new insights into molecular mechanisms for heart failure and to improve prediction, prevention, and treatment of DCM. ..
- Mapping Novel Disease Genes for Dilated CardiomyopathyTIMOTHY MARK OLSON; Fiscal Year: 2010..Discovering the genetic basis of DCM will lead to better ways to diagnose and prevent the progressive weakening of heart muscle that afflicts patients with this disorder. ..