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Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4774 - 10
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from... 
CUTANEOUS MALIGNANT-MELANOMA | METAANALYSIS | SUN EXPOSURE | VARIANTS | MULTIDISCIPLINARY SCIENCES | GENETIC INFLUENCES | PREVALENCE | MELANOCYTIC NEVI | CANCER | TANNING RESPONSE | GENOME-WIDE ASSOCIATION | Cytochrome P-450 CYP1B1 - genetics | Humans | Stem Cell Factor - genetics | RNA-Binding Proteins | RNA - genetics | Telomere-Binding Proteins - genetics | Telomerase - genetics | Nevus, Pigmented - genetics | Group VI Phospholipases A2 - genetics | Melanoma - genetics | Genetic Pleiotropy - genetics | Nuclear Proteins - genetics | Microfilament Proteins - genetics | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Guanine Nucleotide Exchange Factors - genetics | Histone Deacetylases - genetics | Interferon Regulatory Factors - genetics | Repressor Proteins - genetics | Nerve Tissue Proteins - genetics | Carrier Proteins - genetics | Skin Neoplasms - genetics | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Receptors, G-Protein-Coupled - genetics | Bivariate analysis | Pathways | Interferon regulatory factor 4 | Genes | Melanoma | Nevus | Risk | Skin | Single-nucleotide polymorphism | Loci | PLA2G6 protein, human | risk assessment | cutaneous melanoma | Interferon Regulatory Factors | RNA | Medical and Health Sciences | KITLG protein, human | single nucleotide polymorphism | Repressor Proteins | carrier protein | repressor protein | Group VI Phospholipases A2 | Stn1 protein, human | pigmented nevus | G protein coupled receptor | genetic risk | genetic predisposition | skin tumor | PPARGC1B protein, human | telomerase RNA | Carrier Proteins | Basic Medicine | peroxisome proliferator activated receptor gamma coactivator 1beta | nerve protein | biology | gene | HDAC4 protein, human | Receptors, G-Protein-Coupled | Caucasian | melanoma | European Continental Ancestry Group | Genetic Pleiotropy | Nerve Tissue Proteins | histone deacetylase 4 | Guanine Nucleotide Exchange Factors | Nuclear Proteins | Clinical Medicine | Skin Neoplasms | Cytochrome P-450 CYP1B1 | interferon regulatory factor | DOCK8 protein, human | gene expression | cytochrome P450 1B1 | United States | meta analysis | Medicin och hälsovetenskap | Article | skin | pleiotropy | Klinisk medicin | nuclear protein | Medicinsk genetik | Medical Genetics | Netherlands | telomerase | genetics | human | stem cell factor | GPRC5A protein, human | phospholipase A2 group VI | telomere binding protein | meta-analysis | United Kingdom | Histone Deacetylases | interferon regulatory factor 4 | actin binding protein | SYNE2 protein, human | histone deacetylase | Telomere-Binding Proteins | gene locus | guanine nucleotide exchange factor | Microfilament Proteins | MicroRNAs | Nevus, Pigmented | genome-wide association study | Medicinska och farmaceutiska grundvetenskaper | microRNA | meta analysis (topic) | MIRN146 microRNA, human | cancer | Australia | Cancer and Oncology | CYP1B1 protein, human | interferon regulatory factor-4 | telomere homeostasis | Cancer och onkologi
Journal Article
Nature Communications, ISSN 2041-1723, 04/2015, Volume 6, Issue 1, p. 6793
Journal Article
Nature cell biology, ISSN 1476-4679, 2014, Volume 17, Issue 1, pp. 68 - 80
.... We show that FAM40A negatively regulates the MST3 and MST4 kinases, which promote the co-localization of the contractile actomyosin machinery with the Ezrin/Radixin/Moesin family proteins... 
ACTIVATION | INVASION | COMPLEX | KINASE | PP2A | PROTEIN PHOSPHATASE 2A | MYOSIN PHOSPHATASE | MICROARRAY DATA | SUBUNIT | FAMILY | CELL BIOLOGY | Phosphorylation | Autoantigens - metabolism | Humans | Phosphoprotein Phosphatases - metabolism | Autoantigens - genetics | Cell Movement - genetics | Neoplasm Metastasis | RNA Interference | rho-Associated Kinases - metabolism | Apoptosis Regulatory Proteins - genetics | Cytoskeletal Proteins - metabolism | Female | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Calmodulin-Binding Proteins - genetics | Actin Cytoskeleton - metabolism | Signal Transduction | Membrane Proteins - genetics | Computational Biology | Protein-Serine-Threonine Kinases - genetics | Proto-Oncogene Proteins - genetics | Calmodulin-Binding Proteins - metabolism | Actomyosin - metabolism | Protein-Serine-Threonine Kinases - biosynthesis | Carrier Proteins - genetics | Protein Phosphatase 1 - metabolism | Animals | Breast Neoplasms - genetics | Carrier Proteins - metabolism | Breast Neoplasms - pathology | Protein Phosphatase 2 - metabolism | Cell Line, Tumor | RNA, Small Interfering | Drosophila melanogaster | Metastasis | Muscle proteins | Health aspects | Phosphotransferases | Analysis | Cancer cells | Cytoskeletal Proteins | Medical and Health Sciences | Medicin och hälsovetenskap | Protein-Serine-Threonine Kinases | Breast Neoplasms | Klinisk medicin | Calmodulin-Binding Proteins | Journal Article | rho-Associated Kinases | Proto-Oncogene Proteins | Protein Phosphatase 2 | Protein Phosphatase 1 | Carrier Proteins | Phosphoprotein Phosphatases | Actin Cytoskeleton | Actomyosin | Autoantigens | Membrane Proteins | Clinical Medicine | Apoptosis Regulatory Proteins | Microfilament Proteins | Research Support, Non-U.S. Gov't | Cancer and Oncology | Cell Movement | Cancer och onkologi
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 2001, Volume 294, Issue 5550, pp. 2364 - 2368
In Saccharomyces cerevisiae, more than 80% of the ∼6200 predicted genes are nonessential, implying that the genome is buffered from the phenotypic consequences of genetic perturbation... 
Yeasts | Microbial genetics | Cell growth | Diploidy | Molecular genetics | Cell walls | DNA | Actins | Reports | Genetic mutation | Genetic screening | MORPHOGENESIS | SCREEN | BUDDING YEAST | SYNTHETIC LETHAL | MULTIDISCIPLINARY SCIENCES | ACTIN CYTOSKELETON | MUTATIONS | SACCHAROMYCES-CEREVISIAE | Cytoskeletal Proteins | Cell Polarity | Mitosis | Saccharomyces cerevisiae - genetics | Microtubule Proteins - physiology | Databases, Genetic | Endodeoxyribonucleases - physiology | Robotics | DNA, Fungal - biosynthesis | Genome, Fungal | RecQ Helicases | Recombination, Genetic | Gene Deletion | Cell Cycle Proteins - genetics | Microtubule Proteins - genetics | DNA Helicases - genetics | Genes, Fungal - physiology | Carrier Proteins - physiology | Saccharomyces cerevisiae - physiology | Computational Biology | Fungal Proteins - genetics | Genetic Markers | Saccharomyces cerevisiae Proteins - genetics | Genetic Techniques | Genes, Essential | Carrier Proteins - genetics | Endodeoxyribonucleases - genetics | Fungal Proteins - physiology | Microfilament Proteins | DNA Repair | Flap Endonucleases | Cytoskeleton - physiology | Saccharomyces cerevisiae Proteins - physiology | Cell Cycle Proteins - physiology | Saccharomyces cerevisiae - growth & development | Crosses, Genetic | DNA Helicases - physiology | Yeast | Gene mutations | Analysis | Genetic research | Genetic aspects | Research | Genetics | Mutation
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2006, Volume 43, Issue 10, pp. 769 - 787
... of progressive dilatation of the ascending aorta. Recent comprehensive treatments of the clinical aspects of MFS have been published. 1, 2 A review of the molecular genetics... 
GENOTYPE-PHENOTYPE CORRELATION | SHPRINTZEN-GOLDBERG SYNDROME | GROWTH-FACTOR-BETA | EGF-LIKE DOMAIN | UNIVERSAL MUTATION DATABASE | GENETICS & HEREDITY | FACTOR-LIKE DOMAINS | FIBRILLIN-RICH MICROFIBRILS | THORACIC AORTIC-ANEURYSMS | ELASTIN-ASSOCIATED MICROFIBRILS | MICROFIBRIL-ASSOCIATED GLYCOPROTEIN-1 | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Fibrillin-1 | Receptors, Transforming Growth Factor beta - genetics | Humans | Protein-Serine-Threonine Kinases | Databases, Genetic | Extracellular Matrix Proteins - physiology | Fibrillins | Protein Denaturation - genetics | Activin Receptors, Type I - genetics | Marfan Syndrome - genetics | Latent TGF-beta Binding Proteins - genetics | Contractile Proteins - physiology | Animals | Models, Biological | Models, Animal | Marfan Syndrome - complications | Mice | Microfibrils - metabolism | Microfilament Proteins - genetics | Genetic aspects | Gene mutations | Analysis | Marfan syndrome | Studies | Epidermal growth factor | Pathogenesis | Genes | Chemical bonds | Genetics | Extracellular matrix | Mutation | Activin Receptors, Type I | Latent TGF-beta Binding Proteins | Marfan Syndrome | Life Sciences | Aortic Aneurysm, Thoracic | Extracellular Matrix Proteins | Microfilament Prot | Microfibrils | Aneurysm, Dissecting | Contractile Proteins | TGFβ | Review | fibrillin | microfibril
Journal Article
American journal of physiology. Lung cellular and molecular physiology, ISSN 1522-1504, 2015, Volume 308, Issue 1, pp. L33 - L47
Mutation of threonine for isoleucine at codon 73 (I73T) in the human surfactant protein C (hSP-C) gene ( SFTPC... 
Surfactant protein | Pulmonary fibrosis | Alveolar epithelium | Autophagy | Amphisome | alveolar epithelium | autophagy | amphisome | surfactant protein | pulmonary fibrosis | DOMAIN | PHYSIOLOGY | SURFACTANT PROTEIN-C | FUSION | AGGRESOME FORMATION | ENDOPLASMIC-RETICULUM STRESS | MULTIVESICULAR BODIES | RESPIRATORY SYSTEM | MUTATION | DEGRADATION | PULMONARY-FIBROSIS | Proteostasis Deficiencies - metabolism | Lung Diseases, Interstitial - metabolism | Vacuoles - ultrastructure | Lung Diseases, Interstitial - pathology | Microtubule-Associated Proteins - genetics | Sequestosome-1 Protein | Humans | Lysosomes - genetics | Genetic Diseases, Inborn - genetics | Infant | rab GTP-Binding Proteins - genetics | Genetic Diseases, Inborn - pathology | Mutation, Missense | Mitochondria - ultrastructure | Lysosomes - metabolism | ATP-Binding Cassette Transporters - genetics | Mitochondria - genetics | HEK293 Cells | ATP-Binding Cassette Transporters - metabolism | Membrane Potential, Mitochondrial - genetics | Female | Genetic Diseases, Inborn - metabolism | Microfilament Proteins - genetics | Vacuoles - genetics | Gene Expression Regulation - genetics | Proteostasis Deficiencies - pathology | Pulmonary Surfactant-Associated Protein C - metabolism | Mitochondria - metabolism | Microtubule-Associated Proteins - biosynthesis | rab GTP-Binding Proteins - biosynthesis | Ubiquitin-Protein Ligases - biosynthesis | Lysosomes - ultrastructure | Autophagy-Related Protein 8 Family | Proteostasis Deficiencies - genetics | Microfilament Proteins - biosynthesis | Lung Diseases, Interstitial - genetics | Adaptor Proteins, Signal Transducing - genetics | Pulmonary Surfactant-Associated Protein C - genetics | Vacuoles - metabolism | Adaptor Proteins, Signal Transducing - biosynthesis | Ubiquitin-Protein Ligases - genetics | Amino Acid Substitution | Autophagy (Cytology) | Usage | Genetic aspects | Epithelium | Health aspects | Lung diseases | Call for Papers
Journal Article
PloS one, ISSN 1932-6203, 2014, Volume 9, Issue 4, p. e94380
Nesprin-1-giant and nesprin-2-giant regulate nuclear positioning by the interaction of their C-terminal KASH domains with nuclear membrane SUN proteins and their N- terminal calponin-homology domains... 
REAL-TIME PCR | SKELETAL-MUSCLE | CELLS | ROLES | SUN PROTEINS | MULTIDISCIPLINARY SCIENCES | ENVELOPE | DREIFUSS MUSCULAR-DYSTROPHY | LAMIN A/C | ACTIN CYTOSKELETON | NUCLEAR-MEMBRANE PROTEIN | Embryonic Stem Cells - metabolism | Conserved Sequence - genetics | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Muscle, Skeletal - metabolism | Gene Expression Profiling | RNA, Messenger - metabolism | Organ Specificity - genetics | Nerve Tissue Proteins - chemistry | Protein Isoforms - metabolism | Proteolysis | Myocardium - metabolism | Microfilament Proteins - metabolism | Nuclear Proteins - genetics | Microfilament Proteins - genetics | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Microfilament Proteins - chemistry | Muscular Dystrophy, Emery-Dreifuss - genetics | Alternative Splicing - genetics | RNA, Messenger - genetics | Exons - genetics | Nuclear Proteins - metabolism | Nuclear Proteins - chemistry | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Spleen - metabolism | Protein Isoforms - genetics | Analysis | Monoclonal antibodies | Muscles | Physiological aspects | Smooth muscle | Muscle proteins | Health aspects | Heart | Alternative splicing | Cardiomyopathy | Genes | Emery-Dreifuss muscular dystrophy | Homology | Kinases | Tissues | Muscular dystrophy | Western blotting | Proteins | Calponin | Cell growth | Actin | Bioinformatics | Heart diseases | Neuromuscular diseases | Immunoglobulins | Degradation products | Splicing | Gene expression | Skeletal muscle | Polymerase chain reaction | Dilated cardiomyopathy | Cell lines | Isoforms | Stem cells | Cytoskeleton | Mutation | Dystrophy
Journal Article
eLife, ISSN 2050-084X, 2014, Volume 3, p. e01612
... mitochondria remains unclear. In this study, we demonstrate that TBC1D15, a mitochondrial Rab GTPase-activating protein (Rab-GAP... 
Fis1 | rab7 | autophagy | TBC1D15 | Drp1 | Parkin | PARKIN | FIS1 | RECRUITMENT | GTPASE-ACTIVATING PROTEINS | MEMBRANE | PEROXISOMAL FISSION | P62/SQSTM1 | BIOLOGY | DEGRADATION | MAMMALIAN-CELLS | SELECTIVE AUTOPHAGY | Mitochondria - enzymology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Protein Multimerization | rab GTP-Binding Proteins - genetics | Mitochondrial Proteins - genetics | GTPase-Activating Proteins - metabolism | Autophagy | Microtubules - metabolism | Ubiquitination | Lysosomes - metabolism | Transfection | Time Factors | Mitochondrial Proteins - metabolism | HEK293 Cells | Lysosomes - pathology | Membrane Proteins - metabolism | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | rab GTP-Binding Proteins - metabolism | Signal Transduction | Membrane Proteins - genetics | HCT116 Cells | Ubiquitin-Protein Ligases - metabolism | Mitochondria - pathology | Mitochondrial Degradation | Autophagy-Related Protein 8 Family | Adaptor Proteins, Signal Transducing - genetics | Protein Binding | GTPase-Activating Proteins - genetics | HeLa Cells | Adaptor Proteins, Signal Transducing - metabolism | Ubiquitin-Protein Ligases - genetics | Membranes | Yeast | Cloning | Glycerol | Mammals | Morphogenesis | Proteins | Mitochondria | GTPase-activating protein | Microscopy | PTEN-induced putative kinase | Morphology | Parkin protein | GABARAP protein | Guanosinetriphosphatase
Journal Article
The Journal of cell biology, ISSN 0021-9525, 1/2005, Volume 168, Issue 3, pp. 441 - 452
Invadopodia are actin-rich membrane protrusions with a matrix degradation activity formed by invasive cancer cells. We have studied the molecular mechanisms of... 
Receptors | Microfilaments | Actin depolymerizing factors | Small interfering RNA | Actins | Antibodies | Polymerization | Cultured cells | Cell membranes | Cells | CARCINOMA-CELLS | GROWTH-FACTOR RECEPTOR | MAMMARY ADENOCARCINOMA | ACTIN POLYMERIZATION | LAMELLIPOD EXTENSION | N-WASP | EXTRACELLULAR-MATRIX | SPECIALIZED SURFACE PROTRUSIONS | ALDRICH-SYNDROME PROTEIN | INVASIVE CELLS | CELL BIOLOGY | Oncogene Proteins - genetics | RNA, Small Interfering - genetics | Epidermal Growth Factor - physiology | Cytoskeletal Proteins - genetics | Actins - metabolism | Microfilament Proteins - physiology | Extracellular Matrix - metabolism | cdc42 GTP-Binding Protein - metabolism | Quinazolines | Oncogene Proteins - physiology | Cell Movement - physiology | Transfection | Cytoskeletal Proteins - metabolism | Microfilament Proteins - metabolism | Cytoskeletal Proteins - physiology | Wiskott-Aldrich Syndrome Protein Family | Microfilament Proteins - genetics | Carrier Proteins - physiology | Nerve Tissue Proteins - physiology | Wiskott-Aldrich Syndrome Protein, Neuronal | ErbB Receptors - antagonists & inhibitors | Cell Surface Extensions - metabolism | Neoplasm Invasiveness | RNA, Small Interfering - pharmacology | Enzyme Inhibitors - pharmacology | Oncogene Proteins - metabolism | Rats | Tyrphostins - pharmacology | Actin Depolymerizing Factors | cdc42 GTP-Binding Protein - physiology | Nerve Tissue Proteins - genetics | Fibronectins - metabolism | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Adaptor Proteins, Signal Transducing - physiology | Animals | Carrier Proteins - metabolism | GRB2 Adaptor Protein | Models, Biological | cdc42 GTP-Binding Protein - genetics | Cell Surface Extensions - drug effects | Adaptor Proteins, Signal Transducing - genetics | Actin-Related Protein 2 | Cell Line, Tumor | Actin-Related Protein 3 | Adaptor Proteins, Signal Transducing - metabolism | Microscopy, Fluorescence | Cell Surface Extensions - physiology | Epidermal growth factor | Metastasis | Cancer invasiveness | Cancer cells
Journal Article
Trends in biochemical sciences (Amsterdam. Regular ed.), ISSN 0968-0004, 2016, Volume 41, Issue 6, pp. 478 - 490
.... PRDs serve as a platform for protein–protein interactions, often mediating the binding of profilin–actin... 
PROMOTING FACTOR | ATP-ACTIN | CORDON-BLEU | STRUCTURAL BASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | RICKETTSIA SCA2 | ARP2/3 COMPLEX | SYNDAPIN I | MUSCLE-CELLS | BACTERIAL EFFECTOR VOPL | FILAMENT NUCLEATION | Autoantigens - metabolism | Cytoskeletal Proteins - genetics | Actin-Related Protein 2-3 Complex - ultrastructure | Humans | Actins - metabolism | Fetal Proteins - metabolism | Autoantigens - genetics | Drosophila melanogaster - genetics | Actins - genetics | Drosophila melanogaster - metabolism | Actin-Related Protein 2-3 Complex - metabolism | Cell Nucleus - metabolism | Actins - chemistry | Cytoskeletal Proteins - metabolism | Microfilament Proteins - metabolism | Protein Interaction Domains and Motifs | Nuclear Proteins - genetics | Microfilament Proteins - genetics | Amino Acid Sequence | Microfilament Proteins - chemistry | Bacteria - metabolism | Actin Cytoskeleton - metabolism | Protein Structure, Secondary | Polymerization | Nuclear Proteins - metabolism | Autoantigens - chemistry | Cytoskeletal Proteins - chemistry | Nuclear Proteins - chemistry | Bacteria - genetics | Sequence Homology, Amino Acid | Sequence Alignment | Animals | Cell Nucleus - genetics | Fetal Proteins - genetics | Actin Cytoskeleton - ultrastructure | Fetal Proteins - chemistry | Physiological aspects | Muscle proteins | Actin | Protein-protein interactions | Protein binding
Journal Article