Human Molecular Genetics

Tissue-specific expression of a FMR1 /β-galactosidase fusion gene in transgenic mice

Transgenic Mice / Biological Sciences / Human Molecular Genetics / Tissue Specificity

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

Membrane Proteins / Biological Sciences / Humans / Female / Animals / Male / Human Molecular Genetics / Gene Dosage / Behavioral Animal Models / Xenopus laevis / Genetic variation / Aortic Coarctation / Heart Ventricles / Comparative Genomic Hybridization / Hypoplastic Left Heart Syndrome / Male / Human Molecular Genetics / Gene Dosage / Behavioral Animal Models / Xenopus laevis / Genetic variation / Aortic Coarctation / Heart Ventricles / Comparative Genomic Hybridization / Hypoplastic Left Heart Syndrome

A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

Lebanon / Biological Sciences / Humans / Female / Male / Human Molecular Genetics / Infant / Pedigree / Deafness / Consanguinity / Base Sequence / Genetic Markers / Human Molecular Genetics / Infant / Pedigree / Deafness / Consanguinity / Base Sequence / Genetic Markers

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development

Membrane Proteins / Biological Sciences / Humans / Female / Animals / Male / Human Molecular Genetics / Gene Dosage / Behavioral Animal Models / Xenopus laevis / Genetic variation / Aortic Coarctation / Heart Ventricles / Comparative Genomic Hybridization / Hypoplastic Left Heart Syndrome / Male / Human Molecular Genetics / Gene Dosage / Behavioral Animal Models / Xenopus laevis / Genetic variation / Aortic Coarctation / Heart Ventricles / Comparative Genomic Hybridization / Hypoplastic Left Heart Syndrome

Graded Otx2 activities demonstrate dose-sensitive eye and retina phenotypes

Visual acuity / Biological Sciences / Cell line / Cell Differentiation / Mice / Animals / Human Molecular Genetics / Gene Dosage / Animals / Human Molecular Genetics / Gene Dosage

Endoplasmic reticulum stress compromises the ubiquitin-proteasome system

Protein Folding / Endoplasmic Reticulum Stress / Apoptosis / Biological Sciences / Ubiquitin / Humans / Mice / Animals / Human Molecular Genetics / Endoplasmic Reticulum / Tunicamycin / Proteins / Cell nucleus / Ubiquitin Proteasome System / Humans / Mice / Animals / Human Molecular Genetics / Endoplasmic Reticulum / Tunicamycin / Proteins / Cell nucleus / Ubiquitin Proteasome System

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations

Confocal Microscopy / Biological Sciences / DNA / Humans / Mutation / Human Molecular Genetics / Endoplasmic Reticulum / Fluorescent Antibody Technique / Active site / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Body of Knowledge / Human Fibroblasts / Lysosomes / Ligands / Lysosomal Storage Diseases / Human Molecular Genetics / Endoplasmic Reticulum / Fluorescent Antibody Technique / Active site / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Body of Knowledge / Human Fibroblasts / Lysosomes / Ligands / Lysosomal Storage Diseases

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells

Membrane Proteins / Biological Sciences / Humans / Female / Human Molecular Genetics / Phenotype / Chromatin / Progeria / Nuclear envelope / Amino Acid Sequence / Base Sequence / Human Fibroblasts / Phenotype / Chromatin / Progeria / Nuclear envelope / Amino Acid Sequence / Base Sequence / Human Fibroblasts

High mitochondrial DNA copy number has detrimental effects in mice

Skeletal muscle biology / DNA replication / Biological Sciences / Mitochondrial DNA / Humans / Mice / Animals / Human Molecular Genetics / Electron Transport / DNA binding proteins / Mice / Animals / Human Molecular Genetics / Electron Transport / DNA binding proteins

Friedreich ataxia: the oxidative stress paradox

RNA / Oxidative Stress / Mitochondria / Manganese / Biological Sciences / Mice / Animals / Cell Death / Human Molecular Genetics / Iron / Neurons / Superoxide Dismutase / Iron Overload / Microarray Analysis / Oxidative Damage / Neurodegenerative Disease / Cardiomyopathies / Oxidation-Reduction / Friedreich Ataxia / Gene expression profiling / Mice / Animals / Cell Death / Human Molecular Genetics / Iron / Neurons / Superoxide Dismutase / Iron Overload / Microarray Analysis / Oxidative Damage / Neurodegenerative Disease / Cardiomyopathies / Oxidation-Reduction / Friedreich Ataxia / Gene expression profiling

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

Biological Sciences / Humans / Mutation / Animals / Human Molecular Genetics / Phenotype / Zebrafish / Cilia / Phenotype / Zebrafish / Cilia

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

Membrane Proteins / Western blotting / In Situ Hybridization / Biological Sciences / Humans / Mice / Female / Animals / Male / Human Molecular Genetics / Endoplasmic Reticulum / Deafness / Genotype / Rats / Voltage-Gated Sodium Channels / Xenopus laevis / organ of Corti / Rabbits / Oocytes / Serine Protease / Protein Transport / Spiral Ganglion / Mice / Female / Animals / Male / Human Molecular Genetics / Endoplasmic Reticulum / Deafness / Genotype / Rats / Voltage-Gated Sodium Channels / Xenopus laevis / organ of Corti / Rabbits / Oocytes / Serine Protease / Protein Transport / Spiral Ganglion

Frataxin is essential for extramitochondrial Fe S cluster proteins in mammalian tissues

Mitochondria / Biological Sciences / Mutation / Mice / Animals / Human Molecular Genetics / Iron / Subcellular Localization / Sulfur / Friedreich Ataxia / Iron binding proteins / Human Molecular Genetics / Iron / Subcellular Localization / Sulfur / Friedreich Ataxia / Iron binding proteins

Tissue-specific expression of a FMR1 /β-galactosidase fusion gene in transgenic mice

Transgenic Mice / Biological Sciences / Human Molecular Genetics / Tissue Specificity

In vitro-differentiated neural cell cultures progress towards donor-identical brain tissue

Neurogenesis / Long Noncoding Rna / Biological Sciences / Brain / Humans / Male / Human Molecular Genetics / DNA methylation / CpG islands / Neurons / Aged / Neural Stem Cells / Induced Pluripotent Stem Cells / Male / Human Molecular Genetics / DNA methylation / CpG islands / Neurons / Aged / Neural Stem Cells / Induced Pluripotent Stem Cells

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

Genetics / Membrane Proteins / Biological Sciences / Humans / Mice / Retinitis pigmentosa / Animals / Human Molecular Genetics / Centrioles / Cilia / Golgi Apparatus / Primary cilium / Retinitis pigmentosa / Animals / Human Molecular Genetics / Centrioles / Cilia / Golgi Apparatus / Primary cilium

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