Human Molecular Genetics

Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease

Genetics / Animal Behavior / Gene expression / Transgenic Mice / Biological Sciences / Visual Cortex / Cell line / Humans / Mice / Female / Animals / Male / Human Molecular Genetics / Lentivirus / Substantia nigra / Rat Brain / Aged / Middle Aged / Rats / Wistar Rats / Rat Model / Machado-Joseph Disease / Visual Cortex / Cell line / Humans / Mice / Female / Animals / Male / Human Molecular Genetics / Lentivirus / Substantia nigra / Rat Brain / Aged / Middle Aged / Rats / Wistar Rats / Rat Model / Machado-Joseph Disease

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Genetic unmasking of epigenetically silenced tumor suppressor genes in colon cancer cells deficient in DNA methyltransferases

Genetics / Epigenetics / Transcription Factors / Gene Silencing / Colorectal cancer / Biological Sciences / DNA / Cell line / Humans / Female / Calcium channels / Nucleic acid hybridization / Male / Human Molecular Genetics / DNA methylation / CpG islands / Calcium Channel / Tumor Suppressor Gene / Colon cancer / Gene Targeting / Epigenetica / CpG island / Biological Sciences / DNA / Cell line / Humans / Female / Calcium channels / Nucleic acid hybridization / Male / Human Molecular Genetics / DNA methylation / CpG islands / Calcium Channel / Tumor Suppressor Gene / Colon cancer / Gene Targeting / Epigenetica / CpG island

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Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

Polymorphism / Computational Biology / Population Genetics / Systems Biology / Calcium / System Biology / Gene expression / Low Frequency / Biological Sciences / Molecular / Association study / Cercopithecus aethiops / Cell line / Humans / Genetic Testing / Microarray / Mice / Animals / Human Molecular Genetics / Gene Network / Genome / Genes / Integrated Approach / Human Genome / Myocardium / Correlation Analysis / Linkage Disequilibrium / Base Sequence / In Silico / Subcellular Fractions / Calcium Binding Protein / Protein Transport / Allele Frequency / Microarray Data / DNA mutational analysis / System Biology / Gene expression / Low Frequency / Biological Sciences / Molecular / Association study / Cercopithecus aethiops / Cell line / Humans / Genetic Testing / Microarray / Mice / Animals / Human Molecular Genetics / Gene Network / Genome / Genes / Integrated Approach / Human Genome / Myocardium / Correlation Analysis / Linkage Disequilibrium / Base Sequence / In Silico / Subcellular Fractions / Calcium Binding Protein / Protein Transport / Allele Frequency / Microarray Data / DNA mutational analysis

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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Mass Spectrometry / Amyotrophic Lateral Sclerosis / Biological Sciences / Humans / Mice / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes

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Laminin 1 chain reduces muscular dystrophy in laminin 2 chain deficient mice

Skeletal muscle biology / Transmission Electron Microscopy / Biological Sciences / Basement Membrane / Mice / Muscular Dystrophy / Muscular Dystrophies / Animals / Human Molecular Genetics / Fluorescent Antibody Technique / Genotype / Gene Expression Regulation / Laminin / Muscular Dystrophy / Muscular Dystrophies / Animals / Human Molecular Genetics / Fluorescent Antibody Technique / Genotype / Gene Expression Regulation / Laminin

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Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

Gene expression / Biological Sciences / Humans / Expressed Sequence Tags / Animals / Human Molecular Genetics / Hearing Loss / Deafness / Chromosome / Genetic Mapping / Gene Family / Cochlea / cDNA library / Human Molecular Genetics / Hearing Loss / Deafness / Chromosome / Genetic Mapping / Gene Family / Cochlea / cDNA library

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Lack of founding Amerindian mitochondrial DNA lineages in extinct aborigines from Tierra del Fuego-Patagonia

Argentina / Biological Sciences / DNA / Patagonia / Mitochondrial DNA / South American Indians / Ancient DNA / Human Molecular Genetics / Polymerase Chain Reaction / High Resolution / Control Region / Tierra del Fuego / Base Sequence / South American Indians / Ancient DNA / Human Molecular Genetics / Polymerase Chain Reaction / High Resolution / Control Region / Tierra del Fuego / Base Sequence

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ALX4 dysfunction disrupts craniofacial and epidermal development

Web Design / Web Technologies / Web Development / Transcription Factors / Biological Sciences / Web / Humans / Child / Mutation / Male / Human Molecular Genetics / Infant / Epidermis / WEB DEVELOPMENT / Facial Bones / DNA binding proteins / E Commerce / Craniofacial Dysostosis / Web / Humans / Child / Mutation / Male / Human Molecular Genetics / Infant / Epidermis / WEB DEVELOPMENT / Facial Bones / DNA binding proteins / E Commerce / Craniofacial Dysostosis

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The menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal

Biological Sciences / Copper / Human Molecular Genetics / Plasma Membrane

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Distal axonopathy in an alsin-deficient mouse model

Motor neuron / Amyotrophic Lateral Sclerosis / Biological Sciences / Brain / Pregnancy / Humans / Mutation / Mice / Female / Animals / Spinal Cord / Male / Human Molecular Genetics / Central Nervous System / Corticospinal Tract / Superoxide Dismutase / Mouse Model / Amino Acid Sequence / Axons / Humans / Mutation / Mice / Female / Animals / Spinal Cord / Male / Human Molecular Genetics / Central Nervous System / Corticospinal Tract / Superoxide Dismutase / Mouse Model / Amino Acid Sequence / Axons

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Interactome: gateway into systems biology

Computational Biology / Systems Biology / Proteomics / System Biology / Biological Sciences / Humans / Animals / Human Molecular Genetics / Phenotype / Gene expression profiling / Humans / Animals / Human Molecular Genetics / Phenotype / Gene expression profiling

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Glutaredoxin deficiency exacerbates neurodegeneration in C. elegans models of Parkinson\'s disease

Caenorhabditis elegans / Molecular Evolution / Oxidative Stress / Alpha Synuclein / Biological Sciences / Humans / Animals / Human Molecular Genetics / Phenotype / Homeostasis / Cysteine / Cell Survival / Dopaminergic Neurons / Parkinson Disease / Gene Expression Regulation / Humans / Animals / Human Molecular Genetics / Phenotype / Homeostasis / Cysteine / Cell Survival / Dopaminergic Neurons / Parkinson Disease / Gene Expression Regulation

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Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease

Genetics / Animal Behavior / Gene expression / Transgenic Mice / Biological Sciences / Visual Cortex / Cell line / Humans / Mice / Female / Animals / Male / Human Molecular Genetics / Lentivirus / Substantia nigra / Rat Brain / Aged / Middle Aged / Rats / Wistar Rats / Rat Model / Machado-Joseph Disease / Visual Cortex / Cell line / Humans / Mice / Female / Animals / Male / Human Molecular Genetics / Lentivirus / Substantia nigra / Rat Brain / Aged / Middle Aged / Rats / Wistar Rats / Rat Model / Machado-Joseph Disease

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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Mass Spectrometry / Amyotrophic Lateral Sclerosis / Biological Sciences / Humans / Mice / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes / Animals / Human Molecular Genetics / Proteins / Frontotemporal Dementia / Endosomes

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A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases

Biological Sciences / Humans / Female / Animals / Human Molecular Genetics / Y chromosome / Molecular cloning / Human Genome / Hybrid Solar Cells / Amino Acid Profile / Amino Acid Sequence / Base Sequence / Nucleotides / Y chromosome / Molecular cloning / Human Genome / Hybrid Solar Cells / Amino Acid Profile / Amino Acid Sequence / Base Sequence / Nucleotides

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Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors

Transcription Factors / Nuclear Receptor / Biological Sciences / Humans / Mice / Animals / Human Molecular Genetics / Glutathione / Retinal Degeneration / Glutathione Transferase / Orphan Nuclear Receptors / Expression analysis / DNA binding proteins / Rhodopsin / cDNA library / Transducin / Animals / Human Molecular Genetics / Glutathione / Retinal Degeneration / Glutathione Transferase / Orphan Nuclear Receptors / Expression analysis / DNA binding proteins / Rhodopsin / cDNA library / Transducin

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