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International Journal of Gynecological Pathology, ISSN 0277-1691, 09/2019, Volume 38, Issue 5, pp. 479 - 484
We report the first case of an ovarian pericytoma with t(7;12). An 11-year-old child presented with abdominal pain and distension. A suprapubic mass was... 
Translocation | Ovarian | GLI1 | ACTB | Pericytoma | PATHOLOGY | ACTB-GLI1 FUSION | OBSTETRICS & GYNECOLOGY | Index Medicus
Journal Article
American Journal of Surgical Pathology, ISSN 0147-5185, 2018, Volume 42, Issue 4, pp. 553 - 560
Journal Article
The American journal of surgical pathology, ISSN 0147-5185, 4/2018, Volume 42, Issue 4, pp. 553 - 560
ACTB1-GLI1 fusions have been reported as the pathognomonic genetic abnormality defining an unusual subset of actin-positive, perivascular myoid tumors, known... 
SHH | S100 protein | pericytoma | PTCH1 | gastroblastoma | MALAT1 | GLI1 | ACTB
Journal Article
International Journal of Neuroscience, ISSN 0020-7454, 09/2018, Volume 128, Issue 9, pp. 881 - 885
Purpose: Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant genetic disorder involving multiple organ systems and primarily... 
epilepsy | ACTB mutation | cerebral malformations | Baraitser-Winter cerebrofrontofacial syndrome | BARAITSER | WINTER CEREBROFRONTOFACIAL SYNDROME | FRONTO-FACIAL SYNDROME | NEUROSCIENCES | ACTB | RETARDATION | COLOBOMA | DISEASE | PTOSIS | MUTATIONS | MOTILITY | Index Medicus
Journal Article
Autophagy, ISSN 1554-8627, 12/2014, Volume 10, Issue 12, pp. 2171 - 2192
SNCA/α-synuclein aggregation plays a crucial role in synucleinopathies such as Parkinson disease and dementia with Lewy bodies. Aggregating and nonaggregating... 
GFAP, glial fibrillary acidic protein | HSPA8/Hsc70, heat shock 70kDa protein 8 | lysosomal degradation | BafA1, bafilomycinA | CASP3/aCasp3, caspase-3 | ESCRT, endosomal sorting complex required for transport | PF, particle fraction | ANXA5, annexin A5 | SNCA-T, tagged α-synuclein | PDGFB/PDGFb, platelet-derived growth factor subunit b | PD, Parkinson disease | S100B/S100b, S100 calcium-binding protein B | HRP, horseradish peroxidase | TUBB3/b-III-Tub, tubulin, β 3 class III | AIF1/Iba1, allograft inflammatory factor 1 | α-synuclein | CA1, cornu ammonis field1 | RT, room temperature | ILVs, intraluminal vesicles | LAMP2A/Lamp2a, lysosomal-associated membrane protein 2, isoform A | MAP2, microtubule-associated protein 2 | SYP, synaptophysin | CD63, CD63 molecule | LN, Lewy neuritis | ALP, autophagy-lysosomal pathway | RAB11A/rab11, member RAS oncogene family | 1 | secretion | EV, empty vector | protein aggregation | TNF/TNFa, tumor necrosis factor α | WT-SNCA, wild-type α-synuclein | CSF, cerebrospinal fluid | RBFOX3/NeuN, RNA binding protein, fox-1 homolog (C. elegans) 3 | DLB, dementia with Lewy bodies | CM, conditioned medium | tg, transgenic | Parkinson disease | ML, molecular layer | ACTB/bAct, actin, β | ER, endoplasmatic reticulum | synucleinopathies | SL, stratum lacunosum; SNCA/aSyn | SNCAIP/Sph1, synphilin-1 | CMA, chaperone-mediated autophagy | inflammation | Neoctx, neocortex | UPS, ubiquitin proteasome system | IL6/IL-6, interleukin-6 | N, neuron | LB, Lewy bodies | MVBs, multivesicular bodies | PS, phosphatidylserine | Hippo, hippocampus | AK, adenylate kinase | Protein aggregation | Lysosomal degradation | Secretion | Synucleinopathies | Inflammation | CALCIUM-DEPENDENT MANNER | CHAPERONE-MEDIATED AUTOPHAGY | LEWY BODY DISEASE | alpha-synuclein | CELL-DEATH | CELL BIOLOGY | TRANSMISSION | MULTIVESICULAR BODIES | PROTEIN-DEGRADATION | NEURONS | PARKINSONS-DISEASE | Animals | Rats, Wistar | Humans | Cells, Cultured | Mice, Transgenic | Signal Transduction - physiology | Autophagy - physiology | Mice | Neurons - metabolism | Parkinson Disease - metabolism | Lewy Bodies - metabolism | alpha-Synuclein - metabolism | Index Medicus
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 04/2018, Volume 42, Issue 4, pp. 553 - 560
Journal Article
Autophagy, ISSN 1554-8627, 03/2015, Volume 11, Issue 3, pp. 452 - 459
Disruption of the complex of BECN1 with BCL2 or BCL2L1/BCL-X L is an essential switch that turns on cellular autophagy in response to environmental stress or... 
STS, staurosporine | apoptosis | MAP1LC3/LC3, microtubule-associated protein 1 light chain 3 | HRP, horseradish peroxidase | PBS, phosphate-buffered saline | BAK1 | HBSS, Hanks' balanced salt solution | BCL2, B-cell CLL/lymphoma 2 | GAPDH, glyceraldehyde-3-phosphate dehydrogenase | Baf A1, bafilomycin A | MTOR, mechanistic target of rapamycin | autophagy | ACTB, actin, β | FBS, fetal bovine serum | WT, wild type | ABT-737 | BECN1 (Beclin 1) | BECN1, Beclin 1, autophagy-related | DKO, double-knockout | SQSTM1, sequestosome 1 | BAX, BCL2-associated X protein | BCL2 | BAX | MEFs, mouse embryonic fibroblasts | MCL1, myeloid cell leukemia 1 | BAK1, BCL2-antagonist/killer 1 | Autophagy | Apoptosis | bafilomycin A | sequestosome 1 | HRP | BCL2-associated X protein | mechanistic target of rapamycin | phosphate-buffered saline | ACTB | PEPTIDE | CELL BIOLOGY | 1 PHOSPHORYLATION | STS | FBS | X-L | autophagy-related | horseradish peroxidase | Hanks' balanced salt solution | mouse embryonic fibroblasts | LC3 | MOLECULAR-BASIS | PBS | MEFs | BECLIN 1-DEPENDENT AUTOPHAGY | killer 1 | lymphoma 2 | BH3-ONLY PROTEIN | DKO | double-knockout | MAP1LC3 | fetal bovine serum | actin | BCL2-antagonist | wild type | GAPDH | SQSTM1 | BECN1 | staurosporine | myeloid cell leukemia 1 | Baf A1 | BH3 DOMAIN | microtubule-associated protein 1 light chain 3 | glyceraldehyde-3-phosphate dehydrogenase | B-cell CLL | BCL-2 FAMILY-MEMBERS | MCL1 | SUPPRESSION | MTOR | Beclin 1 | HBSS | Beclin-1 | Peptide Fragments | Sulfonamides - chemistry | HCT116 Cells | Humans | bcl-2-Associated X Protein - metabolism | Piperazines - chemistry | bcl-2 Homologous Antagonist-Killer Protein - metabolism | Nitrophenols - chemistry | Apoptosis Regulatory Proteins - metabolism | Mice, Knockout | Proto-Oncogene Proteins c-bcl-2 - metabolism | Animals | Flow Cytometry | Cell Line, Tumor | Protein Binding | Membrane Proteins - metabolism | Mice | Proto-Oncogene Proteins | Biphenyl Compounds - chemistry | Microscopy, Fluorescence | Fibroblasts - metabolism | Index Medicus
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 12/2018, Volume 42, Issue 12, pp. 1653 - 1661
Pseudomyogenic hemangioendothelioma (PHE) is an uncommon, rarely metastasizing vascular neoplasm with predilection to affect young adults. The tumors often... 
FOSB | pseudomyogenic hemangioendothelioma | ACTB | SERPINE1 | SURGERY | NEOPLASM | HEMANGIOMA | HYBRIDIZATION | PATHOLOGY | REARRANGEMENTS | SUBSET | SARCOMA-LIKE HEMANGIOENDOTHELIOMA | T(7/12) | EPITHELIOID SARCOMA | BONE | PERICYTOMA | Hemangioendothelioma | Usage | Young adults | Analysis | Fluorescence in situ hybridization | Genetic aspects | Health aspects | Gene fusion | Index Medicus
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 01/2018, Volume 61, Issue 1, pp. 21 - 23
Journal Article
Autophagy, ISSN 1554-8627, 07/2015, Volume 11, Issue 7, pp. 1037 - 1051
Cadmium is one of the most toxic metal compounds found in the environment. It is well established that Cd induces hepatotoxicity in humans and multiple animal... 
autophagy | mitochondrial ROS | hepatotoxicity | cadmium | melatonin | SOD2 | SIRT3 | Cadmium | Melatonin | Mitochondrial ROS | Autophagy | Hepatotoxicity | PROTEIN | O-2(center dot-) | bafilomycin A | sequestosome 1 | ALT | GPT | H2O2 | ACTB | CELL BIOLOGY | 3-triazol-4-yl)pyridine | mROS | mitochondrial | LC3 | superoxide anion | CALORIE RESTRICTION | OXIDATIVE STRESS | hydrogen peroxide | TOXICITY | SIRT1 | p62 | DAMAGE | CELL-DEATH | actin | 3-TYP | SQSTM1 | superoxide dismutase 2 | 3-methyladenine | IMPROVES MITOCHONDRIAL-FUNCTION | Baf A1 | microtubule-associated protein 1 light chain 3 | mel | MANGANESE-SUPEROXIDE-DISMUTASE | glutamic-pyruvate transaminase (alanine aminotransferase) | 3-(1H-1 | sirtuin 1 | cadmium chloride | tf-LC3 | sirtuin 3 | ROS PRODUCTION | CdCl2 | 3-MA | mitochondrial reactive oxygen species | tandem fluorescent mRFP-GFP-LC3B | Reactive Oxygen Species - metabolism | Sirtuin 3 - metabolism | Cadmium - toxicity | Apoptosis - drug effects | Humans | Mice, Inbred C57BL | Mitochondria - metabolism | Mitochondria - drug effects | Mitochondria - ultrastructure | Autophagy - drug effects | Hep G2 Cells | Acetylation - drug effects | Animals | Models, Biological | Cytoprotection - drug effects | Superoxides - metabolism | Pyridines - pharmacology | Melatonin - pharmacology | Superoxide Dismutase - metabolism | Index Medicus
Journal Article
Molecular Syndromology, ISSN 1661-8769, 01/2019, Volume 9, Issue 5, pp. 259 - 265
The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in ACTB have been identified in patients with... 
Original Article | ACTB gene | Baraitser-Winter syndrome | Missense mutation | Residue position | Actin | Protein conformational change | Original
Journal Article
Autophagy, ISSN 1554-8627, 11/2014, Volume 10, Issue 11, pp. 1989 - 2005
Autophagic dysregulation has been suggested in a broad range of neurodegenerative diseases including age-related macular degeneration (AMD). To test whether... 
SOD2/MnSOD, superoxide dismutase 2, mitochondrial | RPE | ND, normal (rodent) diet | GSH, glutathione, reduced | UPS, ubiquitin-proteasome system | MTT, 3-(4 5-dimethylthiazol-3-yl)-2, 5-diphenyl tetrazolium bromide | LC3, microtubule-associated protein 1 light chain 3 | FACS, fluorescence-activated cell sorting | ROS, reactive oxygen species | age-related macular degeneration | GSSG, glutathione, oxidized | RPE, retinal pigmented epithelium | GFP, green fluorescent protein | POS, photoreceptor outer segments | autophagy | MMP, mitochondrial membrane potential | ACTB, β-actin | FBS, fetal bovine serum | hydrogen peroxide | AMD, age-related macular degeneration | APOE4, apolipoprotein E4 | 3-MA, 3-methyladenine | HFC, high fat, cholesterol-enriched diet | aging | oxidative stress | Aging | Oxidative stress | Age-related macular degeneration | Autophagy | MITOCHONDRIA | MACULAR DEGENERATION | MECHANISMS | DEATH | MODEL | NEURODEGENERATIVE DISEASES | CELL BIOLOGY | PATHOGENESIS | PIGMENT EPITHELIAL-CELLS | CONSEQUENCES | ACCUMULATION | Retina - metabolism | Adenine - analogs & derivatives | Apolipoprotein E4 - genetics | Reactive Oxygen Species - metabolism | Oxidative Stress | Cell Survival | Glutathione - metabolism | Humans | Mice, Inbred C57BL | Gene Expression Regulation | Adenine - chemistry | Hydrogen Peroxide - chemistry | Lipofuscin - chemistry | Animals | Membrane Potentials | Mice | Retinal Pigment Epithelium - cytology | Macular Degeneration - pathology | Index Medicus
Journal Article
Autophagy, ISSN 1554-8627, 12/2014, Volume 10, Issue 12, pp. 2208 - 2222
Dysregulation of autophagy contributes to neuronal cell death in several neurodegenerative and lysosomal storage diseases. Markers of autophagy are also... 
β; AIF1/IBA1, allograft inflammatory factor 1 | SPTAN1, spectrin, α, non-erythrocytic 1 | LAMP1, lysosomal-associated membrane protein 1 | LC3, microtubule associated protein 1 light chain 3 | ACTB, actin | APC, adenomatous polyposis coli | ATG7, autophagy-related 7 | ULK1, unc-51 like autophagy activating kinase 1 | AIFM1, apoptosis-inducing factor, mitochondrion-associated, 1 | ATG5, autophagy-related 5 | autophagy flux | CASP3, caspase 3 | GFP, green fluorescent protein | autophagy | traumatic brain injury | CSPG4, chondroitin sulfate proteoglycan 4 | CAPS12, caspase 12 | neuronal cell death | ATG12, autophagy-related 12 | SQSTM1, sequestosome 1 | CD68, CD68 molecule | CCI, controlled cortical impact | RBFOX3, RNA binding protein, fox-1 homolog (C. elegans) 3 | LAMP2, lysosomal-associated membrane protein 2 | TBI, traumatic brain injury | lysosome | CTSD, cathepsin D | Traumatic brain injury | Autophagy | Neuronal cell death | Autophagy flux | Lysosome | NEURODEGENERATIVE DISEASE | UBIQUITIN | LYSOSOMAL STORAGE DISORDERS | CEREBRAL-CORTEX | RAT MODEL | CELL BIOLOGY | PATHWAY | DEGRADATION | MICE | EXPRESSION | PARKINSONS-DISEASE | Sequestosome-1 Protein | Heat-Shock Proteins - metabolism | Mice, Inbred C57BL | Phagosomes - metabolism | Neurons - cytology | Autophagy - physiology | Brain Injuries - metabolism | Apoptosis Regulatory Proteins - metabolism | Brain - metabolism | Animals | Cell Death - physiology | Neurons - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Brain Injuries - pathology | Disease Models, Animal | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2017, Volume 173, Issue 2, pp. 546 - 549
Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part... 
acute myeloid leukemia | gene | Baraitser–Winter malformation syndrome | craniofrontofacial syndromes | Fryns–Aftimos syndrome | ACTB | ACTG1 | ACTB gene | ACTG1 gene | Fryns-Aftimos syndrome | FRONTO-FACIAL SYNDROME | CANCER | Baraitser-Winter malformation syndrome | RETARDATION | MALFORMATIONS | COLOBOMA | COSTELLO-SYNDROME | GENETICS & HEREDITY | PTOSIS | MUTATIONS | Translocation, Genetic | Lissencephaly - diagnosis | Genetic Testing | Humans | Intellectual Disability - complications | Leukemia, Myeloid, Acute - etiology | Brain - abnormalities | Intellectual Disability - genetics | Young Adult | Facies | Electrocardiography | Leukemia, Myeloid, Acute - drug therapy | Epilepsy - genetics | Female | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Lissencephaly - complications | Treatment Outcome | Bone Marrow Examination | Epilepsy - complications | Epilepsy - diagnosis | Magnetic Resonance Imaging | Leukemia, Myeloid, Acute - diagnosis | Comparative Genomic Hybridization | Craniofacial Abnormalities - diagnosis | Antineoplastic Combined Chemotherapy Protocols - therapeutic use | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Lissencephaly - genetics | Mutation | Lymphomas | Missense mutation | Winter | Myeloid leukemia | Leukemia | Chromosome 7 | Lymphatic leukemia | Acute myeloid leukemia | Lymphoma | Mental retardation | Cancer | Index Medicus
Journal Article
Autophagy, ISSN 1554-8627, 02/2015, Volume 11, Issue 2, pp. 253 - 270
In liver the mitochondrial sirtuin, SIRT5, controls ammonia detoxification by regulating CPS1, the first enzyme of the urea cycle. However, while SIRT5 is... 
PEG, polyethylene glycol | MAP1LC3B, microtubule-associated protein 1 light chain 3 β | GLUL, glutamate-ammonia ligase | ammonia | ATG, autophagy-related | BPTES, bis-2-(5-phenylacetamido-1, 3, 4-thiadiazol-2-yl)ethyl sulfide | glutamine | GABARAPL2, GABA(A) receptor-associated protein-like 2 | succinylation | PARK2, parkin RBR E3 ubiquitin protein ligase | GABARAP, GABA(A) receptor-associated protein | OPA1, optic atrophy 1 (autosomal dominant) | COX4I1, cytochrome c oxidase subunit IV isoform 1 | MFN2, mitofusin 2 | GLUD1, glutamate dehydrogenase 1 | autophagy | hexachlorophene, 2, 2′-methylenebis(3, 4, 6-trichlorophenol) | sirtuin 5 | ACTB, actin, β | BNIP3, BCL2/adenovirus E1B 19kDa interacting protein 3 | TEM, transmission electron microscopy | mitochondrial dynamics | molecular rehabilitation | TCA, tricarboxylic acid cycle | mitophagy | SQSTM1, sequestosome 1 | PINK1, PTEN induced putative kinase 1 | glutaminase | SIRT5, sirtuin 5 | GLS, glutaminase | CPS1, carbamoyl-phosphate synthase 1, mitochondrial | Ammonia | Mitochondrial dynamics sirtuin 5 | Succinylation | Mitophagy | Autophagy | Glutaminase | Molecular rehabilitation | Glutamine | OXIDATIVE STRESS | PROTEIN | MECHANISM | PHOSPHATE-DEPENDENT GLUTAMINASE | SIRTUINS | CELL BIOLOGY | UREA CYCLE | CANCER METABOLISM | GLUTAMINOLYSIS | DEACETYLASE SIRT1 | CELL-METABOLISM | Proteolysis - drug effects | Mitochondrial Degradation - drug effects | Humans | Ubiquitin-Protein Ligases - metabolism | Ammonia - pharmacology | Autophagy - physiology | Glutaminase - metabolism | Mitochondria - metabolism | Mitochondria - drug effects | Mitochondrial Degradation - physiology | Sirtuins - metabolism | Autophagy - drug effects | Index Medicus
Journal Article