Human Molecular Genetics

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Biological Sciences / Brain / Mitochondrial DNA / Humans / Mice / Animals / Human Molecular Genetics / Genomic instability / Animals / Human Molecular Genetics / Genomic instability

Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation

Biological Sciences / Cercopithecus aethiops / Humans / Animals / Human Molecular Genetics / Endoplasmic Reticulum / Proline / Enzyme / Active site / Enzyme activity / Amino Acid Profile / Lysosomes / Lysosomal Storage Diseases / Transient Expression / Proteolytic activity / Endoplasmic Reticulum / Proline / Enzyme / Active site / Enzyme activity / Amino Acid Profile / Lysosomes / Lysosomal Storage Diseases / Transient Expression / Proteolytic activity

Mitochondrial transcription factor A regulates mtDNA copy number in mammals

Transcription Factors / Mammals / Biological Sciences / DNA / Mitochondrial DNA / Humans / Mice / Animals / Human Molecular Genetics / Gene Dosage / Respiration / Transcription Factor / Fetal death / Gene Expression Regulation / Humans / Mice / Animals / Human Molecular Genetics / Gene Dosage / Respiration / Transcription Factor / Fetal death / Gene Expression Regulation

Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia

Biological Sciences / Cell Differentiation / Humans / Neural Crest / Mice / Animals / Human Molecular Genetics / Phenotype / Osteoblasts / Bone and Bones / Animals / Human Molecular Genetics / Phenotype / Osteoblasts / Bone and Bones

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

RNA / Gene expression / Molecular Mechanics / Biological Sciences / Humans / Child / Mutation / Cartilage / Human Molecular Genetics / Degradation / Transcription termination / Osteocytes / Growth Plate / Nonsense Mutation / Tissue Specificity / DNA mutational analysis / Child / Mutation / Cartilage / Human Molecular Genetics / Degradation / Transcription termination / Osteocytes / Growth Plate / Nonsense Mutation / Tissue Specificity / DNA mutational analysis

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene

Membrane Proteins / Biological Sciences / DNA / Humans / Autoimmune diseases / Human Molecular Genetics / Polymerase Chain Reaction / Monocytes / Quantitative Trait Loci / DNA binding proteins / Human Molecular Genetics / Polymerase Chain Reaction / Monocytes / Quantitative Trait Loci / DNA binding proteins

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome

Creatine / Magnetic Resonance Spectroscopy / Biological Sciences / Adipose tissue / Brain / Mutation / Mice / Hypothalamus / Animals / Human Molecular Genetics / Adenylate Kinase / Body Weight / Mutation / Mice / Hypothalamus / Animals / Human Molecular Genetics / Adenylate Kinase / Body Weight

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome

Creatine / Magnetic Resonance Spectroscopy / Biological Sciences / Adipose tissue / Brain / Mutation / Mice / Hypothalamus / Animals / Human Molecular Genetics / Adenylate Kinase / Body Weight / Mutation / Mice / Hypothalamus / Animals / Human Molecular Genetics / Adenylate Kinase / Body Weight

Generalized CNS Disease and Massive GM1-Ganglioside Accumulation in Mice Defective in Lysosomal Acid -galactosidase

Biological Sciences / Brain / Humans / Mice / Animals / Human Molecular Genetics / Glycosphingolipids / Gangliosides / Human Molecular Genetics / Glycosphingolipids / Gangliosides

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid β-galactosidase

Genetics / Biological Sciences / Brain / Humans / Mice / Animals / Spinal Cord / Embryonic Stem Cell / Human Molecular Genetics / Mouse Model / Homologous Recombination / Human Disease / Glycosphingolipids / Gangliosides / Animals / Spinal Cord / Embryonic Stem Cell / Human Molecular Genetics / Mouse Model / Homologous Recombination / Human Disease / Glycosphingolipids / Gangliosides

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Genetics / Biological Sciences / Brain / Mitochondrial DNA / Instability / Humans / Mice / Animals / Human Molecular Genetics / Genomic instability / Glycosyltransferases / Pool / Molecular Sequence Data / Humans / Mice / Animals / Human Molecular Genetics / Genomic instability / Glycosyltransferases / Pool / Molecular Sequence Data

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

Genetics / Biological Sciences / Brain / Mitochondrial DNA / Instability / Humans / Mice / Animals / Human Molecular Genetics / Genomic instability / Glycosyltransferases / Pool / Molecular Sequence Data / Humans / Mice / Animals / Human Molecular Genetics / Genomic instability / Glycosyltransferases / Pool / Molecular Sequence Data

Abnormal visual gain control in a Parkinson\'s Disease model

Drosophila melanogaster / Signal Transduction / Biological Sciences / Humans / Mutation / Animals / Human Molecular Genetics / Contrast sensitivity / Neurons / Visual Evoked Potentials / Protein Kinase Inhibitors / Parkinson Disease / Animals / Human Molecular Genetics / Contrast sensitivity / Neurons / Visual Evoked Potentials / Protein Kinase Inhibitors / Parkinson Disease

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