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Pediatric Pulmonology, ISSN 8755-6863, 01/2020, Volume 55, Issue 1, pp. 190 - 197
Background Mesenchymal stromal cell (MSC)‐mediated therapeutic effects have been observed in the treatment of lung diseases. For the first time, this treatment... 
filamin A mutation | mesenchymal stromal cell | children | interstitial lung disease | allogeneic
Journal Article
by Chen, JJ and Wu, J and Han, CX and Li, Y and Guo, YZ and Tong, XX
BMC NEUROLOGY, ISSN 1471-2377, 08/2019, Volume 19, Issue 1, pp. 198 - 6
Background Myofibrillar myopathies (MFMs) are a genetically heterogeneous group of muscle disorders. Mutations in the filamin C gene (FLNC) have previously... 
Distal myopathy | Missense mutation | Myofibrillar myopathy | Filamin C gene | ACTIN-BINDING DOMAIN | Lower motor neuron | CLINICAL NEUROLOGY | Medicine, Experimental | Medical research | Care and treatment | Muscle diseases | Research | Gene mutations
Journal Article
BMC PEDIATRICS, ISSN 1471-2431, 03/2019, Volume 19, Issue 1, pp. 86 - 10
Journal Article
BMC MEDICAL GENETICS, ISSN 1471-2350, 06/2019, Volume 20, Issue 1, pp. 112 - 7
BackgroundSepto-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia,... 
Septo-optic dysplasia | OF-FUNCTION MUTATION | PERIVENTRICULAR NODULAR HETEROTOPIA | GENETICS & HEREDITY | PITUITARY | FLNA | FILAMIN | MALES | GENE CAUSES | INSIGHTS | FEATURES | Medicine, Experimental | Genetic research | Medical research | Dysplasia | Risk factors
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 08/2019, Volume 9, Issue 1, pp. 12580 - 11
Cardiac contractility is enhanced by phosphorylation of myosin light chain 2 (MLC2) by cardiac-specific MLC kinase (cMLCK), located at the neck region of... 
FILAMIN-BINDING | DOMAIN | PROTEIN-KINASE | MULTIDISCIPLINARY SCIENCES | CROSS-LINKING | ADULT MICE | LIGHT-CHAIN PHOSPHORYLATION | MASS-SPECTROMETRY | ALPHA-ACTININ | STATISTICAL-MODEL | FAMILY | Heart | Atrophy | Phosphorylation | DISC protein | N-Terminus | Myosin | Cardiomyocytes | Dephosphorylation | Cell size | Kinases | Muscle contraction | Deficient mutant
Journal Article
Journal Article
BLOOD, ISSN 0006-4971, 10/2019, Volume 134, Issue 16, pp. 1279 - 1288
Filamins (FLNs) are large dimeric actin-binding proteins that regulate actin cytoskeleton remodeling. In addition, FLNs serve as scaffolds for signaling... 
CYTOPLASMIC DOMAIN | MECHANISM | STRUCTURAL BASIS | PHOSPHORYLATION | PERIVENTRICULAR NODULAR HETEROTOPIA | A BINDING | MEGAKARYOCYTES | MUTATIONS | IDENTIFICATION | HEMATOLOGY | ACTIN-BINDING-PROTEIN | Filamins - metabolism | Animals | Megakaryocytes - metabolism | Blood Platelets - metabolism | Humans
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2019, Volume 381, Issue 11, pp. 1059 - 1067
Journal Article
Emerging Microbes & Infections, ISSN 2222-1751, 01/2019, Volume 8, Issue 1, pp. 934 - 945
Cytoskeletal rearrangement and acute cytotoxicity occur in Vibrio vulnificus-infected host cells. RtxA1 toxin, a multifunctional autoprocessing... 
V. vulnificus | host-parasite interaction | filamin | pak1 | RtxA1 toxin | JNK | p38 | host–parasite interaction | MERLIN | HOST-CELLS | APOPTOSIS | CONTACT | ERM PROTEINS | P21-ACTIVATED-KINASE-1 PAK1 | MARTX TOXIN | MICROBIOLOGY | IMMUNOLOGY | VIRULENCE | ORGANIZATION | RHO-GTPASES
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2019, Volume 27, Issue 6, pp. 909 - 918
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ectopically retained along the lateral ventricles. Genetic... 
BCR | MIGRATION | COMPLEX | MALFORMATIONS | PROTEIN | ABNORMALITIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FILAMIN | MUTATIONS