cytosine has been researched along with Friedreich Ataxia in 2 studies
Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (50.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 1 (50.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Al-Mahdawi, S | 1 |
Sandi, C | 1 |
Mouro Pinto, R | 1 |
Pook, MA | 1 |
Mariappan, SV | 1 |
Catasti, P | 1 |
Silks, LA | 1 |
Bradbury, EM | 1 |
Gupta, G | 1 |
2 other studies available for cytosine and Friedreich Ataxia
Article | Year |
---|---|
Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.
Topics: 5-Methylcytosine; 5' Untranslated Regions; Adolescent; Adult; CCCTC-Binding Factor; Cerebellum; Cyto | 2013 |
The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia.
Topics: Cytosine; DNA; DNA, Single-Stranded; Friedreich Ataxia; Humans; Magnetic Resonance Spectroscopy; Mod | 1999 |