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by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 03/2015, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1), up to half of children with... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth | Index Medicus
Journal Article
Neuron, ISSN 0896-6273, 08/2012, Volume 75, Issue 4, pp. 618 - 632
Mitochondrial abnormalities have been documented in Alzheimer’s disease and related neurodegenerative disorders, but the causal relationship between... 
ALZHEIMERS-DISEASE BRAIN | DOMINANT OPTIC ATROPHY | MITOCHONDRIAL-FUNCTION | MOUSE MODEL | LIGHT-CHAIN | FRONTOTEMPORAL DEMENTIA | AXONAL-TRANSPORT | NEUROSCIENCES | DYNAMIN-RELATED PROTEIN | PHOSPHORYLATION SITES | TRANSGENIC MICE | Neurons - pathology | Microtubule-Associated Proteins - genetics | Tauopathies - genetics | Cytoskeletal Proteins - genetics | Gelsolin - metabolism | Microtubule-Associated Proteins - metabolism | Humans | Actins - metabolism | Tauopathies - pathology | Cytoplasm - metabolism | MicroRNAs - metabolism | Green Fluorescent Proteins - genetics | Mitochondrial Proteins - genetics | Drosophila Proteins - metabolism | GTP-Binding Proteins - genetics | Nerve Degeneration - metabolism | Neurons - ultrastructure | tau Proteins - genetics | Cell Death - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | ATP Synthetase Complexes - metabolism | Cell Cycle Proteins - genetics | Tauopathies - complications | Cytoskeletal Proteins - metabolism | Myosins - metabolism | Cytoplasm - genetics | RNA Interference - physiology | Disease Models, Animal | In Situ Nick-End Labeling | Green Fluorescent Proteins - metabolism | Animals, Genetically Modified | Gene Expression Regulation - genetics | Drosophila | Cell Cycle Proteins - metabolism | Mitochondria - metabolism | Mitochondria - pathology | Mutation - genetics | Animals | GTP Phosphohydrolases - metabolism | Analysis of Variance | GTP Phosphohydrolases - genetics | Gelsolin - genetics | Mice | Drosophila Proteins - genetics | Nerve Degeneration - etiology | Voltage-Dependent Anion Channels - metabolism | GTP-Binding Proteins - metabolism | Nervous system diseases | Actin | Neurons | Utrophin | Myosin | Mitochondrial DNA | Alzheimer's disease | Proteins | Phosphorylation | Mitochondria | Neurotoxicity | Insects | Microscopy | Neurodegeneration | Pathogenesis | Morphology | Mutation | Defects | Index Medicus | Neurodegenerative diseases | Tau protein | Cell death | Elongation
Journal Article
by Appenzeller, Silke and Balling, Rudi and Barisic, Nina and Baulac, Stéphanie and Caglayan, Hande and Craiu, Dana and De Jonghe, Peter and Depienne, Christel and Dimova, Petia and Djémié, Tania and Gormley, Padhraig and Guerrini, Renzo and Helbig, Ingo and Hjalgrim, Helle and Hoffman-Zacharska, Dorota and Jähn, Johanna and Klein, Karl Martin and Koeleman, Bobby and Komarek, Vladimir and Krause, Roland and Kuhlenbäumer, Gregor and Leguern, Eric and Lehesjoki, Anna-Elina and Lemke, Johannes R and Lerche, Holger and Linnankivi, Tarja and Marini, Carla and May, Patrick and Møller, Rikke S and Muhle, Hiltrud and Pal, Deb and Palotie, Aarno and Pendziwiat, Manuela and Robbiano, Angela and Roelens, Filip and Rosenow, Felix and Selmer, Kaja and Serratosa, Jose M and Sisodiya, Sanjay and Stephani, Ulrich and Sterbova, Katalin and Striano, Pasquale and Suls, Arvid and Talvik, Tiina and von Spiczak, Sarah and Weber, Yvonne and Weckhuysen, Sarah and Zara, Federico and Abou-Khalil, Bassel and Alldredge, Brian K and Andermann, Eva and Andermann, Frederick and Amron, Dina and Bautista, Jocelyn F and Berkovic, Samuel F and Bluvstein, Judith and Boro, Alex and Cascino, Gregory and Consalvo, Damian and Crumrine, Patricia and Devinsky, Orrin and Dlugos, Dennis and Epstein, Michael P and Fiol, Miguel and Fountain, Nathan B and French, Jacqueline and Friedman, Daniel and Geller, Eric B and Glauser, Tracy and Glynn, Simon and Haas, Kevin and Haut, Sheryl R and Hayward, Jean and Helmers, Sandra L and Joshi, Sucheta and Kanner, Andres and Kirsch, Heidi E and Knowlton, Robert C and Kossoff, Eric H and Kuperman, Rachel and Kuzniecky, Ruben and Lowenstein, Daniel H and McGuire, Shannon M and Motika, Paul V and Novotny, Edward J and Ottman, Ruth and Paolicchi, Juliann M and Parent, Jack and Park, Kristen and Poduri, Annapurna and Sadleir, Lynette and Scheffer, Ingrid E and Shellhaas, Renée A and Sherr, Elliott and Shih, Jerry J and Singh, Rani and Sirven, Joseph and Smith, Michael C and Sullivan, Joe and Thio, Liu Lin and ... and Epi4K Consortium and EuroEPINOMICS-RES Consortium and Epilepsy Phenome Genome Project and Epilepsy Phenome/Genome Project
The American Journal of Human Genetics, ISSN 0002-9297, 10/2014, Volume 95, Issue 4, pp. 360 - 370
Journal Article
The EMBO Journal, ISSN 0261-4189, 10/2014, Volume 33, Issue 20, pp. 2388 - 2407
Journal Article
Free Radical Biology and Medicine, ISSN 0891-5849, 11/2017, Volume 112, pp. 336 - 349
Aberrant modulation of mitochondrial dynamic network, which shifts the balance of fusion and fission towards fission, is involved in brain damage of various... 
Mdivi-1 | Inflammation | Early brain injury | Blood-brain barrier disruption | Subarachnoid hemorrhage | Apoptosis | OXYGEN SPECIES PRODUCTION | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEX I INHIBITOR | HIPPOCAMPAL-NEURONS | RAT MODEL | MITOCHONDRIAL FISSION | CELL-DEATH | SIGNALING PATHWAY | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | NF-KAPPA-B | Interleukin-6 - antagonists & inhibitors | Reactive Oxygen Species - metabolism | Apoptosis - drug effects | Proto-Oncogene Proteins c-bcl-2 - agonists | Tumor Necrosis Factor-alpha - genetics | Male | NF-kappa B - metabolism | Interleukin-1beta - genetics | Subarachnoid Space - drug effects | Occludin - metabolism | Matrix Metalloproteinase 9 - metabolism | Interleukin-1beta - metabolism | Matrix Metalloproteinase 9 - genetics | Subarachnoid Hemorrhage - mortality | Zonula Occludens-1 Protein - metabolism | Interleukin-6 - metabolism | Subarachnoid Hemorrhage - drug therapy | Interleukin-1beta - antagonists & inhibitors | Zonula Occludens-1 Protein - genetics | NF-kappa B - antagonists & inhibitors | Endoplasmic Reticulum Stress - drug effects | Interleukin-6 - genetics | bcl-2-Associated X Protein - metabolism | Dynamins - genetics | Rats | Subarachnoid Hemorrhage - genetics | Rats, Sprague-Dawley | Blood-Brain Barrier - metabolism | Reactive Oxygen Species - antagonists & inhibitors | Survival Analysis | Subarachnoid Space - metabolism | Tumor Necrosis Factor-alpha - metabolism | Dynamins - metabolism | Mitochondrial Dynamics - genetics | Claudin-5 - metabolism | Occludin - genetics | Proto-Oncogene Proteins c-bcl-2 - metabolism | Mitochondria - genetics | Quinazolinones - pharmacology | bcl-2-Associated X Protein - genetics | Dynamins - antagonists & inhibitors | Claudin-5 - genetics | Mitochondria - metabolism | Mitochondria - drug effects | Subarachnoid Hemorrhage - pathology | bcl-2-Associated X Protein - antagonists & inhibitors | Blood-Brain Barrier - drug effects | Animals | Mitochondrial Dynamics - drug effects | NF-kappa B - genetics | Subarachnoid Space - pathology | Proto-Oncogene Proteins c-bcl-2 - genetics | Tumor Necrosis Factor-alpha - antagonists & inhibitors | Stroke (Disease) | Proteins | Medical research | Brain | Neurons | Analysis | Medicine, Experimental | Brain damage | Injuries | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 365 - 371
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2007, Volume 282, Issue 42, pp. 30643 - 30657
The preservation of vascular endothelial cell ( EC) barrier integrity is critical to normal vessel homeostasis, with barrier dysfunction being a feature of... 
LIGHT-CHAIN KINASE | HYALURONAN-CD44 INTERACTION | PHOSPHATIDYLINOSITOL 3-KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ENDOTHELIAL-CELLS | ACUTE LUNG INJURY | MARCKS FAMILY | CYTOSKELETAL REARRANGEMENT | INDUCED SIGNAL-TRANSDUCTION | CELL BARRIER ENHANCEMENT | SPHINGOSINE 1-PHOSPHATE | Neoplasms - metabolism | Proto-Oncogene Proteins c-met - metabolism | Respiratory Distress Syndrome, Adult - pathology | Inflammation - pathology | Atherosclerosis - genetics | Humans | rac GTP-Binding Proteins - metabolism | Respiratory Distress Syndrome, Adult - metabolism | Capillary Permeability - genetics | Neovascularization, Pathologic - pathology | Inflammation - metabolism | Respiratory Distress Syndrome, Adult - genetics | Protein Isoforms - metabolism | Neoplasms - genetics | Guanine Nucleotide Exchange Factors - metabolism | rac GTP-Binding Proteins - genetics | Hyaluronan Receptors - metabolism | Hepatocyte Growth Factor - genetics | Dynamin II - metabolism | Neuropeptides - genetics | T-Lymphoma Invasion and Metastasis-inducing Protein 1 | Disease Models, Animal | Atherosclerosis - pathology | Guanine Nucleotide Exchange Factors - genetics | Endothelial Cells - metabolism | Dynamin II - genetics | Neuropeptides - metabolism | Cortactin - metabolism | Hyaluronan Receptors - genetics | Atherosclerosis - metabolism | Hepatocyte Growth Factor - metabolism | Mice, Knockout | Proto-Oncogene Proteins c-met - genetics | Antibodies - pharmacology | Animals | Cortactin - genetics | Inflammation - genetics | Neovascularization, Pathologic - genetics | Mice | Neovascularization, Pathologic - metabolism | Endothelial Cells - pathology | Neoplasms - pathology | Homeostasis - genetics | rac1 GTP-Binding Protein - metabolism | Protein Isoforms - genetics | rac1 GTP-Binding Protein - genetics | Index Medicus
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 10/2012, Volume 1822, Issue 10, pp. 1570 - 1580
Deleterious consequences of heterozygous mutations responsible for autosomal dominant optic atrophy remain a matter of debate. Primary skin fibroblasts derived... 
Mitochondrial fusion | Energy metabolism | Oxidative phosphorylation | Mitochondrial disease | Mitochondrial compartment | OXIDATIVE-PHOSPHORYLATION | APOPTOSIS | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COUPLING DEFECT | DOMINANT OPTIC ATROPHY | BIOPHYSICS | DNA | EXTERNAL OPHTHALMOPLEGIA | FISSION | DYNAMIN-RELATED PROTEIN | MORPHOLOGY | Skin - cytology | Skin Physiological Phenomena - drug effects | Microtubule-Associated Proteins - genetics | Apoptosis - drug effects | Microtubule-Associated Proteins - metabolism | Skin - metabolism | Humans | Optic Atrophy, Autosomal Dominant - metabolism | Membrane Fusion - genetics | Apoptosis - genetics | Mitochondrial Proteins - genetics | Glycolysis - drug effects | Electron Transport Complex IV - metabolism | Glycolysis - genetics | Oxidative Phosphorylation - drug effects | Cell Respiration - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | Carbonyl Cyanide m-Chlorophenyl Hydrazone - pharmacology | Skin Physiological Phenomena - genetics | Cell Respiration - drug effects | Cell Respiration - physiology | bcl-Associated Death Protein - metabolism | Membrane Fusion - drug effects | bcl-2-Associated X Protein - genetics | Fibroblasts - metabolism | bcl-Associated Death Protein - genetics | Cells, Cultured | Oxidative Stress - genetics | bcl-2-Associated X Protein - metabolism | Mitochondria - metabolism | Protein Structure, Tertiary - genetics | Electron Transport Complex IV - genetics | Mitochondria - drug effects | GTP Phosphohydrolases - metabolism | GTP Phosphohydrolases - genetics | Fibroblasts - drug effects | Optic Atrophy, Autosomal Dominant - genetics | Heterozygote | Oxidative Stress - drug effects | Membrane Fusion - physiology | Skin - drug effects | Protein Structure, Tertiary - drug effects | Proteins | Glucose metabolism | Analysis | Physiological aspects | Skin | Genetic aspects | Mitochondrial DNA | Cyanides | Ophthalmology
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 08/2012, Volume 287, Issue 35, pp. 30024 - 30034
Journal Article