about
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VICarboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane SortingEmerin presence in plateletsRevelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotypeCongenital muscular dystrophies: a brief reviewAltered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiencyImmunocytochemical detection of emerin within the nuclear matrixNerve growth factor downregulates inflammatory response in human monocytes through TrkAMyosin as a potential redox-sensor: an in vitro study.Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesisSusceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions.Inflammasome activation by cystine crystals: implications for the pathogenesis of cystinosis.Focal adhesion kinase (FAK) mediates the induction of pro-oncogenic and fibrogenic phenotypes in hepatitis C virus (HCV)-infected cells.Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report.Aged iPSCs display an uncommon mitochondrial appearance and fail to undergo in vitro neurogenesis.Intracellular distribution of glutathionylated proteins in cultured dermal fibroblasts by immunofluorescence.High concentrations of H2O2 trigger hypertrophic cascade and phosphatase and tensin homologue (PTEN) glutathionylation in H9c2 cardiomyocytes.The empowerment of translational research: lessons from laminopathies.Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophyUse of short interfering RNA delivered by cationic liposomes to enable efficient down-regulation of PTPN22 gene in human T lymphocytesCharacterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.LPS-induced TNF-α factor mediates pro-inflammatory and pro-fibrogenic pattern in non-alcoholic fatty liver diseaseClinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of FunctionUltrastructural characterization of genetic diffuse lung diseases in infants and children: a cohort study and review.Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs).ERAP1 regulates natural killer cell function by controlling the engagement of inhibitory receptors.A possible role of transglutaminase 2 in the nucleus of INS-1E and of cells of human pancreatic isletsFrataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neuronsGlutathionylation of p65NF-kappaB correlates with proliferating/apoptotic hepatoma cells exposed to pro- and anti-oxidants.Expanding the clinical spectrum of POMT1 phenotype.Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging.Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutationsUllrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
P50
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P50
description
hulumtuese
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հետազոտող
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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S Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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Stefania Petrini
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P106
P1153
6602874683
P21
P31
P496
0000-0002-3249-0003