| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Irene De Biase, Astrid Rasmussen, Antonella Monticelli, Sahar Al-Mahdawi, Mark Pook, Sergio Cocozza, Sanjay I Bidichandan. Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics. vol 90. issue 1. 2007-09-26. PMID:17498922. |
friedreich ataxia (frda) patients are homozygous for expanded gaa triplet-repeat alleles in the fxn gene. |
2007-09-26 |
2023-08-12 |
Not clear |
| Eriko Greene, Lata Mahishi, Ali Entezam, Daman Kumari, Karen Usdi. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic acids research. vol 35. issue 10. 2007-06-25. PMID:17478498. |
friedreich ataxia (frda), the most common hereditary ataxia, is caused by mutations in the frataxin (fxn) gene. |
2007-06-25 |
2023-08-12 |
Not clear |
| Rhonda M Clark, Irene De Biase, Anna P Malykhina, Sahar Al-Mahdawi, Mark Pook, Sanjay I Bidichandan. 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. Human genetics. vol 120. issue 5. 2007-04-16. PMID:17024371. |
friedreich ataxia (frda) is caused by homozygosity for fxn alleles containing an expanded gaa triplet-repeat (gaa-tr) sequence. |
2007-04-16 |
2023-08-12 |
mouse |
| Paul M Rindler, Rhonda M Clark, Laura M Pollard, Irene De Biase, Sanjay I Bidichandan. Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats. Nucleic acids research. vol 34. issue 21. 2007-01-03. PMID:17142224. |
friedreich ataxia is caused by an expanded (gaa.ttc)n sequence in intron 1 of the fxn gene. |
2007-01-03 |
2023-08-12 |
mouse |
| Sahar Al-Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, Lorraine Lawrence, Margaret B Lowrie, Sian Hughes, Zoe Webster, Julian Blake, J Mark Cooper, Rosalind King, Mark A Poo. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics. vol 88. issue 5. 2006-12-05. PMID:16919418. |
friedreich ataxia (frda) is a neurodegenerative disorder caused by an unstable gaa repeat expansion mutation within intron 1 of the fxn gene. |
2006-12-05 |
2023-08-12 |
mouse |
| A Rasmussen, M Gómez, E Alonso, S I Bidichandan. Clinical heterogeneity of recessive ataxia in the Mexican population. Journal of neurology, neurosurgery, and psychiatry. vol 77. issue 12. 2006-12-04. PMID:17110750. |
approximately 75% of indo-european patients with recessive ataxia are homozygous for frataxin gene (fxn) mutations and have either typical or atypical friedreich ataxia (frda). |
2006-12-04 |
2023-08-12 |
Not clear |
| P Cavadini, C Gellera, P I Patel, G Isay. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae. Human molecular genetics. vol 9. issue 17. 2000-12-22. PMID:11030757. |
human frataxin (fxn) is severely reduced in friedreich ataxia (frda), a frequent autosomal recessive neuro- and cardio-degenerative disease. |
2000-12-22 |
2023-08-12 |
human |