Human Fibroblasts - Page 4

Congenital Transcobalamin II Deficiency Due to Errors in RNA Editing

RNA Editing / Humans / Female / Male / Infant / Clinical Sciences / Genomic DNA / Genetic Disorder / Human Fibroblasts / Autosomal Recessive / Protein Binding / Full Length Movies / Clinical Sciences / Genomic DNA / Genetic Disorder / Human Fibroblasts / Autosomal Recessive / Protein Binding / Full Length Movies

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Coenzyme Q deficiency triggers mitochondria degradation by mitophagy

Mitochondria / Autophagy / Apoptosis / Western blotting / Humans / Reactive Oxygen Species / Mice / Animals / Electron Transport / Biological markers / Cell Proliferation / Human Fibroblasts / Cell Survival / Syndrome / Coenzyme Q / Biochemistry and cell biology / Gene Expression Regulation / Reactive Oxygen Species / Mice / Animals / Electron Transport / Biological markers / Cell Proliferation / Human Fibroblasts / Cell Survival / Syndrome / Coenzyme Q / Biochemistry and cell biology / Gene Expression Regulation

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Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

Genetics / Electron Microscopy / Membrane Proteins / Mitochondria / Tomography / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts

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Circadian Gene Expression in Individual Fibroblasts

Gene expression / Cell Division / Biological Sciences / Mitosis / Mice / Circadian Rhythm / Animals / Cell / Oscillations / Real Time / Cytokinesis / Biological clocks / Cell communication / Human Fibroblasts / Circadian Clock / Suprachiasmatic Nucleus / Gene Expression Regulation / Circadian Rhythm / Animals / Cell / Oscillations / Real Time / Cytokinesis / Biological clocks / Cell communication / Human Fibroblasts / Circadian Clock / Suprachiasmatic Nucleus / Gene Expression Regulation

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Electrospun chitosan-P(LLA-CL) nanofibers for biomimetic extracellular matrix

Materials Engineering / Chemical Engineering / Tissue Engineering / Biomimetics / Chitosan / Electrospinning / Nanotechnology / Extracellular Matrix / Scanning Electron Microscope / Cell Proliferation / Human Fibroblasts / Polyesters / Tensile Strength / Cell Growth / Fourier transform infrared / MTT assay / Electrospinning / Nanotechnology / Extracellular Matrix / Scanning Electron Microscope / Cell Proliferation / Human Fibroblasts / Polyesters / Tensile Strength / Cell Growth / Fourier transform infrared / MTT assay

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Xeroderma Pigmentosum Group A Protein Loads as a Separate Factor onto DNA Lesions

Genetics / Cellular Biology / Fluorescence Microscopy / Confocal Microscopy / DNA damage / DNA repair / Biological Sciences / Cell line / Molecular and cellular biology / Humans / Ultraviolet / Light / Peptides / Protein structure / Nucleotide Excision Repair / Green Fluorescent Protein / Cell nucleus / Dose Response Relationship / Time Factors / Transfection / Human Fibroblasts / DNA binding proteins / Immunoblotting / DNA repair / Biological Sciences / Cell line / Molecular and cellular biology / Humans / Ultraviolet / Light / Peptides / Protein structure / Nucleotide Excision Repair / Green Fluorescent Protein / Cell nucleus / Dose Response Relationship / Time Factors / Transfection / Human Fibroblasts / DNA binding proteins / Immunoblotting

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Prenatal diagnosis of pyruvate carboxylase deficiency

Pregnancy / Humans / Liver / Female / Male / Amniotic Fluid / Skin / Biotin / Clinical Sciences / Newborn Infant / Prenatal Diagnosis / Fetus / Gestational Age / Citrulline / Human Fibroblasts / Protein Binding / Amniotic Fluid / Skin / Biotin / Clinical Sciences / Newborn Infant / Prenatal Diagnosis / Fetus / Gestational Age / Citrulline / Human Fibroblasts / Protein Binding

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Lysyl oxidases play a causal role in vascular remodeling in clinical and experimental pulmonary arterial hypertension

Enzyme Inhibitors / Pulmonary Hypertension / Humans / Anoxia / Collagen / Mice / Female / Animals / Male / Young Adult / Clinical Sciences / Middle Aged / Elastin / Rats / Adult / Isoenzymes / Human Fibroblasts / Case Control Studies / Pulmonary Artery / Mice / Female / Animals / Male / Young Adult / Clinical Sciences / Middle Aged / Elastin / Rats / Adult / Isoenzymes / Human Fibroblasts / Case Control Studies / Pulmonary Artery

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Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency

Mitochondria / Mitochondrial DNA / Humans / Mutation / Cytochrome c oxidase / Biochemical / Cell nucleus / Thymidine Kinase / Human Fibroblasts / Biochemistry and cell biology / Biochemical / Cell nucleus / Thymidine Kinase / Human Fibroblasts / Biochemistry and cell biology

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Phosphonic pseudopeptides as human neutrophil elastase inhibitors—a combinatorial approach

Organic Chemistry / Cystic Fibrosis / Rheumatoid Arthritis / Single molecule / Humans / Trypsin / Serine Proteases / Second Order / Gingiva / Bioorganic and medicinal Chemistry / Cell Proliferation / Biological activity / Human Fibroblasts / Serine Protease / Cell Survival / Tumor Growth / Molecular Structure / Chymotrypsin / Trypsin / Serine Proteases / Second Order / Gingiva / Bioorganic and medicinal Chemistry / Cell Proliferation / Biological activity / Human Fibroblasts / Serine Protease / Cell Survival / Tumor Growth / Molecular Structure / Chymotrypsin

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Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

Electron Microscopy / DNA / Mitochondrial DNA / Humans / Clinical / Male / Infant / Electron Transport / nuclear DNA / Newborn Infant / Cell nucleus / Hybrid Solar Cells / Human Fibroblasts / Clinical Investigation / Male / Infant / Electron Transport / nuclear DNA / Newborn Infant / Cell nucleus / Hybrid Solar Cells / Human Fibroblasts / Clinical Investigation

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Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids

Molecular Genetics / Humans / Male / Infant / Membrane transport proteins / Clinical Sciences / Breast milk / Human Milk / Amino Acid Profile / Human Fibroblasts / Genome Duplication / Clinical Sciences / Breast milk / Human Milk / Amino Acid Profile / Human Fibroblasts / Genome Duplication

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DNA damaging agents improve stable gene transfer efficiency in mammalian cells

Radiation / DNA damage / Cell line / Humans / Mice / Animals / Gene transfer techniques / Hydrogen Peroxide / Transfection / Recombination / Human Fibroblasts / Gene Transfer / Animals / Gene transfer techniques / Hydrogen Peroxide / Transfection / Recombination / Human Fibroblasts / Gene Transfer

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Lipoamide dehydrogenase deficiency with primary lactic acidosis: Favorable response to treatment with oral lipoic acid

Pediatrics / Humans / Male / Infant / The / Skin / Acidosis / Human Fibroblasts / Skin / Acidosis / Human Fibroblasts

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Cytoplasmic localization of PML particles in laminopathies

Fluorescence Microscopy / Adolescent / Transcription Factors / Humans / Child / Mutation / Female / Male / Skin / Phenotype / Middle Aged / Cell nucleus / Genotype / Adult / Time Factors / Biological markers / Transfection / Human Fibroblasts / Cytoplasm / Mutation / Female / Male / Skin / Phenotype / Middle Aged / Cell nucleus / Genotype / Adult / Time Factors / Biological markers / Transfection / Human Fibroblasts / Cytoplasm

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Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells

Calcium / Drosophila melanogaster / Biological Sciences / Hippocampus / Cell line / Humans / Mice / Animals / Neurons / Glycosylation / Homeostasis / Presenilin-2 / Human Fibroblasts / Lysosomes / Humans / Mice / Animals / Neurons / Glycosylation / Homeostasis / Presenilin-2 / Human Fibroblasts / Lysosomes

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