Sanjay Bidichandani to Humans
This is a "connection" page, showing publications Sanjay Bidichandani has written about Humans.
Connection Strength
0.624
-
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E. Sci Rep. 2022 03 23; 12(1):5031.
Score: 0.045
-
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia. Hum Mol Genet. 2021 02 04; 29(23):3818-3829.
Score: 0.041
-
Friedreich ataxia- pathogenesis and implications for therapies. Neurobiol Dis. 2019 12; 132:104606.
Score: 0.038
-
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.
Score: 0.029
-
FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. PLoS One. 2015; 10(9):e0138437.
Score: 0.029
-
Epigenetic promoter silencing in Friedreich ataxia is dependent on repeat length. Ann Neurol. 2014 Oct; 76(4):522-8.
Score: 0.027
-
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.
Score: 0.026
-
Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS One. 2012; 7(10):e47085.
Score: 0.023
-
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease. BMC Med Genet. 2010 Jan 12; 11:4.
Score: 0.019
-
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.
Score: 0.019
-
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.
Score: 0.018
-
Repair of DNA double-strand breaks within the (GAA*TTC)n sequence results in frequent deletion of the triplet-repeat sequence. Nucleic Acids Res. 2008 Feb; 36(2):489-500.
Score: 0.017
-
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.
Score: 0.016
-
Anticipation and intergenerational repeat instability in spinocerebellar ataxia type 17. Ann Neurol. 2007 Jun; 61(6):607-10.
Score: 0.016
-
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics. 2007 Jul; 90(1):1-5.
Score: 0.016
-
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol. 2007 Jan; 61(1):55-60.
Score: 0.016
-
Clinical heterogeneity of recessive ataxia in the Mexican population. J Neurol Neurosurg Psychiatry. 2006 Dec; 77(12):1370-2.
Score: 0.016
-
Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats. Nucleic Acids Res. 2006; 34(21):6352-61.
Score: 0.015
-
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.
Score: 0.015
-
Expansion of GAA trinucleotide repeats in mammals. Genomics. 2006 Jan; 87(1):57-67.
Score: 0.014
-
Friedreich ataxia in carriers of unstable borderline GAA triplet-repeat alleles. Ann Neurol. 2004 Dec; 56(6):898-901.
Score: 0.014
-
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res. 2004; 32(19):5962-71.
Score: 0.013
-
Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. Genomics. 2004 Nov; 84(5):779-84.
Score: 0.013
-
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.
Score: 0.013
-
What Mendel did not discover: exceptions in Mendelian genetics and their role in inherited human disease. J Okla State Med Assoc. 2004 Jan; 97(1):12-7.
Score: 0.013
-
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.
Score: 0.012
-
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions. Arch Neurol. 2000 Feb; 57(2):246-51.
Score: 0.010
-
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.
Score: 0.010
-
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.
Score: 0.008
-
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.
Score: 0.008
-
Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. Hum Genet. 1995 May; 95(5):531-8.
Score: 0.007
-
Characterisation of a 5-bp deletion in exon 4 of the factor VIII gene: concordance with slipped-mispairing at DNA replication. Hum Genet. 1994 Oct; 94(4):447-9.
Score: 0.007
-
A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene. Hum Mol Genet. 1994 Apr; 3(4):651-3.
Score: 0.006
-
Funding agencies and disease organizations: resources and recommendations to facilitate ALS clinical research. Amyotroph Lateral Scler Frontotemporal Degener. 2013 May; 14 Suppl 1:62-6.
Score: 0.006
-
Acidic proline-rich protein Db and caries in young children. J Dent Res. 2007 Dec; 86(12):1176-80.
Score: 0.004
-
Distinct distribution of autosomal dominant spinocerebellar ataxia in the Mexican population. Mov Disord. 2007 May 15; 22(7):1050-3.
Score: 0.004
-
Length-dependent structure formation in Friedreich ataxia (GAA)n*(TTC)n repeats at neutral pH. Nucleic Acids Res. 2004; 32(3):1224-31.
Score: 0.003
-
Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. J Neurosci Res. 2001 Sep 15; 65(6):508-19.
Score: 0.003
-
Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene. Antisense Nucleic Acid Drug Dev. 2001 Aug; 11(4):233-46.
Score: 0.003
-
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.
Score: 0.002
-
Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions. Am J Hum Genet. 1997 May; 60(5):1184-93.
Score: 0.002
-
Frataxin fracas. Nat Genet. 1997 Apr; 15(4):337-8.
Score: 0.002
-
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 08; 271(5254):1423-7.
Score: 0.002
-
Circulating human factor IX produced in keratin-promoter transgenic mice: a feasibility study for gene therapy of haemophilia B. Hum Mol Genet. 1995 Jun; 4(6):993-9.
Score: 0.002
-
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res. 1994 Nov 11; 22(22):4851-68.
Score: 0.002
-
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res. 1994 Sep; 22(17):3511-33.
Score: 0.002