Phenotype - Page 10

Pseudoxanthoma Elasticum-Like Phenotype with Cutis Laxa and Multiple Coagulation Factor Deficiency Represents a Separate Genetic Entity

Genetics / Visual acuity / Humans / Blood Coagulation Factors / Female / Male / Skin / Phenotype / Skin Diseases / Enzyme / Clinical Sciences / Middle Aged / Adult / Dermis / INVESTIGATIVE / Electron Microscope / Male / Skin / Phenotype / Skin Diseases / Enzyme / Clinical Sciences / Middle Aged / Adult / Dermis / INVESTIGATIVE / Electron Microscope

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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

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Cell-specific caspase expression by different neuronal phenotypes in transient retinal ischemia

Neurochemistry / Apoptosis / Caspases / Ischemia / Animals / Male / Neurons / Phenotype / Rats / Retinal Ganglion Cells / Reperfusion injury / Retinal Diseases / Neurosciences / Interneurons / Ocular Hypertension / Enzyme Induction / Cysteine Proteinase Inhibitors / Male / Neurons / Phenotype / Rats / Retinal Ganglion Cells / Reperfusion injury / Retinal Diseases / Neurosciences / Interneurons / Ocular Hypertension / Enzyme Induction / Cysteine Proteinase Inhibitors

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Introgression of mitochondrial DNA among Myodes voles: consequences for energetics?

Evolutionary Biology / Genetics / Mitochondrial DNA / Female / Animals / Male / Phenotype / Cell nucleus / Arvicolinae / Male / Phenotype / Cell nucleus / Arvicolinae

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Archaebacteria: ancient organisms with commercial potential

Biotechnology / Multidisciplinary / Bacteria / Phenotype

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Introgression of mitochondrial DNA among Myodes voles: consequences for energetics?

Evolutionary Biology / Genetics / Mitochondrial DNA / Female / Animals / Male / Phenotype / Cell nucleus / Arvicolinae / Male / Phenotype / Cell nucleus / Arvicolinae

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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

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Você conhece esta síndrome?

Adolescent / Biopsy / Macular Degeneration / Insulin Resistance / Humans / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms / Child / Hypotrichosis / Female / Male / Infant / Differential Diagnosis / Skin / Immunoglobulin E / Phenotype / Deafness / Skin Diseases / Clinical Sciences / Middle Aged / Darier Disease / Adult / Mouth mucosa / Tuberous sclerosis / Hyperpigmentation / Noonan syndrome / Syndrome / Keratitis / Skin Neoplasms

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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

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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

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Distinct white collar-1 genes control specific light responses in Mucor circinelloides

Molecular Microbiology / Carotenoids / Transcription Factors / Signal Transduction / Biological Sciences / Sequence alignment / Mutation / Phenotype / Amino Acid Sequence / DNA binding proteins / Molecular Sequence Data / Sequence alignment / Mutation / Phenotype / Amino Acid Sequence / DNA binding proteins / Molecular Sequence Data

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Bone Has a Sexually Dimorphic Response to Aromatase Deficiency

Engineering / Sexual dimorphism / Biological Sciences / Osteoporosis / Humans / Mice / Femur / Bone / Female / Animals / Male / Osteoclasts / Bone Density / Osteocalcin / Phenotype / Amino Acids / Bone Mineral Density / Biological markers / Bone remodeling / Osteoblasts / Bone and Bones / lumbar vertebrae / Mice / Femur / Bone / Female / Animals / Male / Osteoclasts / Bone Density / Osteocalcin / Phenotype / Amino Acids / Bone Mineral Density / Biological markers / Bone remodeling / Osteoblasts / Bone and Bones / lumbar vertebrae

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Oral–facial–digital syndromes: Review and diagnostic guidelines

Genetics / Medical Genetics / Face / Humans / Mice / Animals / American / Phenotype / Clinical Sciences / Syndrome / Animals / American / Phenotype / Clinical Sciences / Syndrome

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Cl Transport in Complemented CF Bronchial Epithelial Cells Correlates with CFTR mRNA Expression Levels

Cystic Fibrosis / Immunohistochemistry / Gene expression / Cell line / Humans / cyclic AMP / Cellular Physiology / Medical Physiology / Gene Dosage / Phenotype / mRna expression levels / Epithelial cells / Bronchial Epithelial Cells / Ion Transport / Transgene Expression / Electric Conductivity / Plasma Membrane / Full Length Movies / Gene Expression Regulation / Chlorides / cyclic AMP / Cellular Physiology / Medical Physiology / Gene Dosage / Phenotype / mRna expression levels / Epithelial cells / Bronchial Epithelial Cells / Ion Transport / Transgene Expression / Electric Conductivity / Plasma Membrane / Full Length Movies / Gene Expression Regulation / Chlorides

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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Genetics / Adolescent / Sweden / Mental Retardation / Humans / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies

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Arabidopsis Phosphoribosylanthranilate Isomerase: Molecular Genetic Analysis of Triplicate Tryptophan Pathway Genes

Genetics / Plant Biology / Molecular Genetics / Mutation / Escherichia coli / Tryptophan / Arabidopsis / Phenotype / Enzyme / Genomic DNA / UV light / Multienzyme complexes / Enzyme activity / Amino Acid Profile / Plant cell / Amino Acid Sequence / Base Sequence / Gene Family / PLANT PROTEINS / Transgenic plant / Nucleotides / Biochemistry and cell biology / Tryptophan / Arabidopsis / Phenotype / Enzyme / Genomic DNA / UV light / Multienzyme complexes / Enzyme activity / Amino Acid Profile / Plant cell / Amino Acid Sequence / Base Sequence / Gene Family / PLANT PROTEINS / Transgenic plant / Nucleotides / Biochemistry and cell biology

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