Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat - Wikidata - wikimedia - TriplyDB

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

http://www.wikidata.org/entity/Q35248864

about

Friedreich ataxia: an overview Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.Autosomal recessive cerebellar ataxias.Progressive GAA.TTC repeat expansion in human cell lines.Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene.GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts Mesenchymal stem cells restore frataxin expression and increase hydrogen peroxide scavenging enzymes in Friedreich ataxia fibroblasts Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design.Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.Molecular basis of Friedreich ataxia.Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia.Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats Early onset of Friedreich's ataxia in a compound heterozygote.TORC1 Inhibition by Rapamycin Promotes Antioxidant Defences in a Drosophila Model of Friedreich's Ataxia Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro Metal Homeostasis Regulators Suppress FRDA Phenotypes in a Drosophila Model of the Disease Clinical heterogeneity of recessive ataxia in the Mexican population Friedreich's ataxia is a mitochondrial disorder.Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template.Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich's Ataxia.Gene regulation and epigenetics in Friedreich's ataxia.Animal and cellular models of Friedreich ataxia.Clinical features of Friedreich's ataxia: classical and atypical phenotypes.Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.Mesenchymal Stem Cell-Derived Factors Restore Function to Human Frataxin-Deficient Cells.Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.Low predisposition to instability of the Friedreich ataxia gene in Cuban population.Clinical and genetic study of Friedreich ataxia in an Australian population.Analysis of the visual system in Friedreich ataxia.

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Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

http://www.wikidata.org/entity/Q35248864

description

1997 nî lūn-bûn

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1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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1997 թվականի հուլիսին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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Phenotype correlation and inte ...... taxia GAA trinucleotide repeat

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Phenotype correlation and inte ...... taxia GAA trinucleotide repeat

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Phenotype correlation and inte ...... taxia GAA trinucleotide repeat

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Phenotype correlation and inte ...... taxia GAA trinucleotide repeat

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Phenotype correlation and inte ...... taxia GAA trinucleotide repeat

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American Journal of Human Genetics

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Phenotype correlation and inte ...... taxia GAA trinucleotide repeat

@en

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Blanca J

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Cañizares J

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Martínez F

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Monrós E

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Palau F

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Prieto F

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Vílchez JJ

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de Frutos R

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P2860

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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

Clinical and genetic abnormalities in patients with Friedreich's ataxia

Experience with direct molecular diagnosis of fragile X.

French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.

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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101-110

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scholarly article

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10.1086/513887

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1

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61

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María D. Moltó

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1997-07-01T00:00:00Z

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13973912

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9245990

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1715858

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