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Connection

Sanjay Bidichandani to Friedreich Ataxia

This is a "connection" page, showing publications Sanjay Bidichandani has written about Friedreich Ataxia.
Connection Strength

7.200
  1. DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. Sci Rep. 2022 03 23; 12(1):5031.
    View in: PubMed
    Score: 0.769
  2. Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia. Hum Mol Genet. 2021 02 04; 29(23):3818-3829.
    View in: PubMed
    Score: 0.711
  3. Friedreich ataxia- pathogenesis and implications for therapies. Neurobiol Dis. 2019 12; 132:104606.
    View in: PubMed
    Score: 0.645
  4. Reversal of epigenetic promoter silencing in Friedreich ataxia by a class I histone deacetylase inhibitor. Nucleic Acids Res. 2016 06 20; 44(11):5095-104.
    View in: PubMed
    Score: 0.504
  5. FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. PLoS One. 2015; 10(9):e0138437.
    View in: PubMed
    Score: 0.490
  6. Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Ann Neurol. 2014 Oct; 76(4):522-8.
    View in: PubMed
    Score: 0.455
  7. Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia. J Biol Chem. 2014 May 30; 289(22):15194-202.
    View in: PubMed
    Score: 0.444
  8. Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One. 2009 Nov 19; 4(11):e7914.
    View in: PubMed
    Score: 0.327
  9. Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics. 2007 Jul; 90(1):1-5.
    View in: PubMed
    Score: 0.274
  10. Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol. 2007 Jan; 61(1):55-60.
    View in: PubMed
    Score: 0.268
  11. Clinical heterogeneity of recessive ataxia in the Mexican population. J Neurol Neurosurg Psychiatry. 2006 Dec; 77(12):1370-2.
    View in: PubMed
    Score: 0.266
  12. Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol. 2004 Dec; 56(6):898-901.
    View in: PubMed
    Score: 0.232
  13. Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res. 2004; 32(19):5962-71.
    View in: PubMed
    Score: 0.231
  14. Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. Genomics. 2004 Nov; 84(5):779-84.
    View in: PubMed
    Score: 0.230
  15. The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions. Hum Mol Genet. 2002 Sep 01; 11(18):2175-87.
    View in: PubMed
    Score: 0.198
  16. Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Arch Neurol. 2000 Feb; 57(2):246-51.
    View in: PubMed
    Score: 0.166
  17. 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. Hum Mol Genet. 1999 Dec; 8(13):2425-36.
    View in: PubMed
    Score: 0.164
  18. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet. 1998 Jan; 62(1):111-21.
    View in: PubMed
    Score: 0.143
  19. Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am J Hum Genet. 1997 May; 60(5):1251-6.
    View in: PubMed
    Score: 0.137
  20. Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS One. 2012; 7(10):e47085.
    View in: PubMed
    Score: 0.100
  21. E. coli mismatch repair acts downstream of replication fork stalling to stabilize the expanded (GAA.TTC)(n) sequence. Mutat Res. 2009 Feb 10; 661(1-2):71-7.
    View in: PubMed
    Score: 0.076
  22. Deficiency of RecA-dependent RecFOR and RecBCD pathways causes increased instability of the (GAA*TTC)n sequence when GAA is the lagging strand template. Nucleic Acids Res. 2007; 35(20):6884-94.
    View in: PubMed
    Score: 0.071
  23. 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. Hum Genet. 2007 Jan; 120(5):633-40.
    View in: PubMed
    Score: 0.066
  24. Expansion of GAA trinucleotide repeats in mammals. Genomics. 2006 Jan; 87(1):57-67.
    View in: PubMed
    Score: 0.062
  25. Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics. 2004 Mar; 83(3):373-83.
    View in: PubMed
    Score: 0.055
  26. A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism. Muscle Nerve. 1998 Mar; 21(3):390-3.
    View in: PubMed
    Score: 0.036
  27. Frataxin fracas. Nat Genet. 1997 Apr; 15(4):337-8.
    View in: PubMed
    Score: 0.034
  28. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 08; 271(5254):1423-7.
    View in: PubMed
    Score: 0.032
  29. Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH. Nucleic Acids Res. 2004; 32(3):1224-31.
    View in: PubMed
    Score: 0.014
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

THIS IS A DEVELOPMENT VERSION OF PROFILES. PLEASE GO TO THE PRODUCTION ENVIRONMENT FOR UPDATES