Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. - Wikidata - awgldk - TriplyDB

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

http://www.wikidata.org/entity/Q36658216

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Treatment for dysphagia (swallowing difficulties) in hereditary ataxia Treatment for dysphagia (swallowing difficulties) in hereditary ataxia syndromes Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup Friedreich ataxia: an overview Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models Prevalence gradients of Friedreich's ataxia and R1b haplotype in Europe co-localize, suggesting a common Palaeolithic origin in the Franco-Cantabrian ice age refuge Emerging critical roles of Fe-S clusters in DNA replication and repair.Analysis of strand slippage in DNA polymerase expansions of CAG/CTG triplet repeats associated with neurodegenerative disease Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich's Ataxia Disruption of Higher Order DNA Structures in Friedreich's Ataxia (GAA)n Repeats by PNA or LNA Targeting Perceived effectiveness and barriers to physical therapy services for families and children with Friedreich ataxia.Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1 Progressive GAA.TTC repeat expansion in human cell lines.The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Molecular basis of Friedreich ataxia.Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia.Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.Consensus clinical management guidelines for Friedreich ataxia.Gene expression profiling of mitochondrial oxidative phosphorylation (OXPHOS) complex I in Friedreich ataxia (FRDA) patients.Mechanism of Action of 2-Aminobenzamide HDAC Inhibitors in Reversing Gene Silencing in Friedreich's Ataxia.Friedreich ataxia in Norway - an epidemiological, molecular and clinical study Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.A new cellular model to follow Friedreich's ataxia development in a time-resolved way.Is Friedreich ataxia an epigenetic disorder?Pathways to motor incoordination: the inherited ataxias.Recent advances in hereditary spinocerebellar ataxias.DNA mismatch repair complex MutSβ promotes GAA·TTC repeat expansion in human cells Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence Microsatellites as targets of natural selection Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.Impact of Friedreich's Ataxia on health-care resource utilization in the United Kingdom and Germany

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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

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Proceedings of the National Academy of Sciences of the United States of America

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Evolution of the Friedreich's ...... under effect and premutations.

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Campuzano V

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P2860

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13

Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes

The Huntington's disease candidate region exhibits many different haplotypes

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Clinical and genetic abnormalities in patients with Friedreich's ataxia

A unique origin and multistep process for the generation of expanded DRPLA triplet repeats

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence.

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

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