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Mutation
Mutation
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Adolescent / Apoptosis / Nature / Biological Sciences / Humans / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome / Child / Genetic Testing / Mutation / Female / Male / Infant / Proteins / Pedigree / Adult / Autosomal Recessive / Myeloid Cells / Syndrome
INCREASED SIZE EXCLUSION LIMIT2 Encodes a Putative DEVH Box RNA Helicase Involved in Plasmodesmata Function during Arabidopsis Embryogenesis
Genetics / Plant Biology / Plasmodesmata / Gene expression / Gene Silencing / Protein Structure and Function / Mutation / Arabidopsis / Phenotype / Molecular cloning / microRNAs / Embryonic Development / Seeds / Seedling / Biological markers / Plant cell / Subcellular Fractions / Cell Fate / Embryos / Protein Transport / Biochemistry and cell biology / Down-Regulation / Protein Structure and Function / Mutation / Arabidopsis / Phenotype / Molecular cloning / microRNAs / Embryonic Development / Seeds / Seedling / Biological markers / Plant cell / Subcellular Fractions / Cell Fate / Embryos / Protein Transport / Biochemistry and cell biology / Down-Regulation
Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism
Decision Making / Energy Metabolism / Mitochondrial DNA / Humans / Mutation / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid
Drosophila polypyrimidine tract-binding protein (DmPTB) regulates dorso-ventral patterning genes in embryos
Engineering / Physics / Chemistry / Biology / Drosophila melanogaster / Medicine / Multidisciplinary / In Situ Hybridization / Signal Transduction / Mutation / Animals / Alternative splicing / PLoS one / Body Patterning / Transforming Growth Factor Beta / Alternative Splicing / Medicine / Multidisciplinary / In Situ Hybridization / Signal Transduction / Mutation / Animals / Alternative splicing / PLoS one / Body Patterning / Transforming Growth Factor Beta / Alternative Splicing
Restoration of Progranulin Expression Rescues Cortical Neuron Generation in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia
Neurogenesis / Gene expression / Transcriptome / Cell line / Cell Differentiation / Humans / Mutation / Neurons / Haploinsufficiency / Phenotype / Time Factors / Frontotemporal Dementia / Biological markers / Neural Stem Cells / Induced Pluripotent Stem Cells / Gene expression profiling / Humans / Mutation / Neurons / Haploinsufficiency / Phenotype / Time Factors / Frontotemporal Dementia / Biological markers / Neural Stem Cells / Induced Pluripotent Stem Cells / Gene expression profiling
Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency
Genetics / Electron Microscopy / Dermatology / Adolescent / Biopsy / Humans / Child / Keratinocytes / Mutation / Collagen / Female / Epidermolysis Bullosa / Male / Skin / Hyperplasia / Pedigree / Risk factors / Clinical Sciences / Association / Aged / Middle Aged / Oral Squamous Cell Carcinoma (OSCC) / Fluorescent Antibody Technique / ALOPECIA / Atrophy / Bullous Pemphigoid / Granulation Tissue / Epithelium / Adult / Prognosis / Risk Factors / Dental Enamel / Chronic Kidney Failure / Epitopes / Antigens / Cell Adhesion Molecules / Autoantigens / Skin Neoplasms / Mohs surgery / Humans / Child / Keratinocytes / Mutation / Collagen / Female / Epidermolysis Bullosa / Male / Skin / Hyperplasia / Pedigree / Risk factors / Clinical Sciences / Association / Aged / Middle Aged / Oral Squamous Cell Carcinoma (OSCC) / Fluorescent Antibody Technique / ALOPECIA / Atrophy / Bullous Pemphigoid / Granulation Tissue / Epithelium / Adult / Prognosis / Risk Factors / Dental Enamel / Chronic Kidney Failure / Epitopes / Antigens / Cell Adhesion Molecules / Autoantigens / Skin Neoplasms / Mohs surgery
Aberrant Heparan Sulfate Proteoglycan Localization, Despite Normal Exostosin, in Central Chondrosarcoma
Cancer / Localization / Confocal Microscopy / Adolescent / Humans / Child / Mutation / Female / Male / Young Adult / American / Aged / Middle Aged / Adult / Anomaly / Normal / Comparative Genomic Hybridization / Immunoblotting / Child / Mutation / Female / Male / Young Adult / American / Aged / Middle Aged / Adult / Anomaly / Normal / Comparative Genomic Hybridization / Immunoblotting
Human transferrin G277S mutation and iron deficiency in pregnancy
Pregnancy / Humans / Mutation / Female / Transferrin / Adult / Iron Deficiency Anemia / Adult / Iron Deficiency Anemia
Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypes
Small angle X-ray and neutron scattering / Multidisciplinary / Macromolecular X-Ray Crystallography / Amyotrophic Lateral Sclerosis / Humans / Mutation / Copper / Superoxide Dismutase / Phenotype / Solutions / Acids / Edetic Acid / Mutation / Copper / Superoxide Dismutase / Phenotype / Solutions / Acids / Edetic Acid
Mutagenesis of important amino acid reveals unconventional homologous internalization of β1-adrenergic receptor
Life Sciences / Western blotting / Cell line / Humans / Mutation / cyclic AMP / D-Aspartic Acid / Lysine / Radioligand Assay / Amino Acid Profile / Transfection / Propranolol / Site-directed Mutagenesis / Ligands / Biochemistry and cell biology / Isoproterenol / cyclic AMP / D-Aspartic Acid / Lysine / Radioligand Assay / Amino Acid Profile / Transfection / Propranolol / Site-directed Mutagenesis / Ligands / Biochemistry and cell biology / Isoproterenol
Aberrant Heparan Sulfate Proteoglycan Localization, Despite Normal Exostosin, in Central Chondrosarcoma
Cancer / Localization / Confocal Microscopy / Adolescent / Humans / Child / Mutation / Female / Male / Young Adult / American / Aged / Middle Aged / Adult / Anomaly / Normal / Comparative Genomic Hybridization / Immunoblotting / Child / Mutation / Female / Male / Young Adult / American / Aged / Middle Aged / Adult / Anomaly / Normal / Comparative Genomic Hybridization / Immunoblotting
Habitual Physical Activity in Mitochondrial Disease
Physical Activity / Exercise therapy / Multidisciplinary / Humans / Mutation / Habits / Female / Male / Risk factors / Phenotype / PLoS one / Mitochondrial Diseases / Neuromuscular Disease / Genotype / Adult / Risk Factors / Clinical Presentation / Control Group / Motor activity / Habits / Female / Male / Risk factors / Phenotype / PLoS one / Mitochondrial Diseases / Neuromuscular Disease / Genotype / Adult / Risk Factors / Clinical Presentation / Control Group / Motor activity
Progranulin genetic variability contributes to amyotrophic lateral sclerosis
Cognitive Science / Neurology / Dementia / Belgium / Amyotrophic Lateral Sclerosis / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Netherlands / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Survival Rate / Genetic variation / Genetic Variability / Genetic Markers / Neurosciences / Age of Onset / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Netherlands / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Survival Rate / Genetic variation / Genetic Variability / Genetic Markers / Neurosciences / Age of Onset
Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion
Mitochondria / Biological Sciences / Pregnancy / Mitochondrial DNA / Genetic Testing / Mutation / Placenta / Mice / Female / Animals / Embryonic Stem Cells / Phenotype / Human Fibroblasts / Mutation / Placenta / Mice / Female / Animals / Embryonic Stem Cells / Phenotype / Human Fibroblasts
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series
Genetics / Cognitive Science / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies
Characterization of a Cu/Zn Superoxide dismutase-encoding gene region in Drosophila willistoni
Genetics / Microbiology / Physiology / Molecular Microbiology / Genetic Engineering / Biological Sciences / DNA / Molecular / Drosophila / Virulence / Brain / Humans / Sequence alignment / Mutation / Reactive Oxygen Species / Mice / Cryptococcus Neoformans / Animals / Male / Genetic transformation / Gene / Superoxide Dismutase / Enzyme / Neutrophils / Environmental Conditions / Microbial Sensitivity Tests / Molecular Mass / Amino Acid Sequence / Base Sequence / Virulence Factors / Knock out / Meningoencephalitis / Glomeromycota / Electron Paramagnetic Resonance / Biochemistry and cell biology / Gene expression profiling / Biological Sciences / DNA / Molecular / Drosophila / Virulence / Brain / Humans / Sequence alignment / Mutation / Reactive Oxygen Species / Mice / Cryptococcus Neoformans / Animals / Male / Genetic transformation / Gene / Superoxide Dismutase / Enzyme / Neutrophils / Environmental Conditions / Microbial Sensitivity Tests / Molecular Mass / Amino Acid Sequence / Base Sequence / Virulence Factors / Knock out / Meningoencephalitis / Glomeromycota / Electron Paramagnetic Resonance / Biochemistry and cell biology / Gene expression profiling
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