AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesDisciplines and OccupationsInformation ScienceNamed GroupsHealth Care
Trinucleotide Repeat ExpansionTrinucleotide RepeatsFriedreich AtaxiaDNA Repeat ExpansionMyotonic DystrophyHeredodegenerative Disorders, Nervous SystemSpinocerebellar DegenerationsFragile X SyndromeFragile X Mental Retardation ProteinHuntington DiseaseIron-Binding ProteinsMicrosatellite RepeatsAllelesRepetitive Sequences, Nucleic AcidTripletsMutationSpinocerebellar AtaxiasBase SequencePhenotypeMolecular Sequence DataTandem Repeat SequencesFrontotemporal DementiaDNAMachado-Joseph DiseaseAnticipation, GeneticNerve Tissue ProteinsNucleic Acid ConformationGenomic InstabilityFlap EndonucleasesMinisatellite RepeatsPedigreePolymorphism, GeneticPolymerase Chain ReactionGenetic Diseases, InbornAmyotrophic Lateral SclerosisInverted Repeat SequencesRNA-Binding ProteinsDinucleotide RepeatsGenetic MarkersAge of OnsetSequence Analysis, DNAModels, GeneticCerebellar AtaxiaGenetic VariationIntranuclear Inclusion BodiesMuscular Dystrophy, OculopharyngealGenotypeDNA PrimersNeurodegenerative DiseasesChromosome FragilityNuclear ProteinsProteinsDNA, SatellitePeptidesDNA RepairAmino Acid SequenceRepetitive Sequences, Amino AcidGenome, HumanMyoclonic Epilepsies, ProgressiveHaplotypesHeterozygoteChromosome MappingExonsMice, TransgenicTranscription, GeneticDNA ReplicationGene FrequencyRNA, MessengerDNA-Binding ProteinsGenetic LinkageGenes, DominantSaccharomyces cerevisiaeEvolution, MolecularGenetics, PopulationSequence DeletionPregnancy, TripletUnverricht-Lundborg SyndromeMyotonic DisordersNucleic Acid HeteroduplexesCell LineReceptors, AndrogenAtaxiaDisease Models, AnimalDNA Mutational AnalysisMutS Homolog 2 ProteinRecombination, GeneticRNANervous System DiseasesIntrons
RegionSpecificSingleDiseaseExpression
Region1
  • Myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by CTG tandem repeat expansions in the DMPK 3' untranslated region. (bvsalud.org)
Specific1
Single3
  • citation needed] Unlike point mutations, which affect only a single nucleotide, microsatellite mutations lead to the gain or loss of an entire repeat unit, and sometimes two or more repeats simultaneously. (wikipedia.org)
  • genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
  • control of cad gene expression could involve either differential regulation of more than one cad gene or, alternatively combinatorial regulation of a single cad gene. (liverpool.ac.uk)
Disease3
  • They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (wikipedia.org)
  • The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)
  • Other microsatellites are located in regulatory flanking or intronic regions of genes, or directly in codons of genes - microsatellite mutations in such cases can lead to phenotypic changes and diseases, notably in triplet expansion diseases such as fragile X syndrome and Huntington's disease. (wikipedia.org)
Expression1
  • To address the molecular and cellular events that lead to these pathological outcomes, we recently generated a mouse Dmpk CTG expansion knock-in model and identified choroid plexus epithelial cells as particularly affected by the expression of toxic CUG expansion RNAs. (bvsalud.org)