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Bidichandani, Sanjay

One or more keywords matched the following items that are connected to Bidichandani, Sanjay

Item Type	Name
Concept	Spinocerebellar Ataxias
Concept	Cerebellar Ataxia
Concept	Friedreich Ataxia
Academic Article	Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
Academic Article	Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor.
Academic Article	The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model.
Academic Article	Clinical heterogeneity of recessive ataxia in the Mexican population.
Academic Article	Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Academic Article	The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
Academic Article	A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.
Academic Article	Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.
Academic Article	E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence.
Academic Article	Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription.
Academic Article	FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
Academic Article	Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
Academic Article	The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions.
Academic Article	Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu.
Academic Article	Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH.
Academic Article	Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population.
Academic Article	Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia.
Academic Article	Expansion of GAA trinucleotide repeats in mammals.
Academic Article	Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.
Academic Article	Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template.
Academic Article	Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia.
Academic Article	Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length.
Academic Article	Frataxin fracas.
Academic Article	Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.
Academic Article	Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles.
Academic Article	Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population.
Academic Article	Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17.
Academic Article	Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life.
Academic Article	Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.
Academic Article	Friedreich ataxia- pathogenesis and implications for therapies.
Grant	RNA-induced transcriptional gene silencing in Friedreich ataxia
Grant	Properties and determinants of GAA repeat instability
Academic Article	Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation.
Academic Article	DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.
Academic Article	FXN gene methylation determines carrier status in Friedreich ataxia.

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Ataxia