Type | Description |
---|---|
Definition | tRNA |
Date | Results | Publications |
---|---|---|
2020-08-22 15:27:00 | Mitochondrial tRNA(Ser(UCN)) 7471delC may be a novel mutation associated with maternally transmitted hypertension. | 31776834 |
2019-08-17 10:08:00 | These results demonstrated that the m.7505A>G variant affected both structure and function of tRNA(Ser(UCN)) and consequently altered mitochondrial function. The findings highlighted critical insights into the pathophysiology of maternally inherited deafness, which is manifested by the aberrant tRNA metabolism. | 30336267 |
2019-02-23 13:14:00 | The authors results suggest that, in addition to sensorineural HI, the m.7510T>C mutation is associated with a spectrum of mitochondrial diseases including migraine, epilepsy, cognitive impairment, ataxia, and tremor, and with evidence of mitochondrial myopathy . | 29299381 |
2018-08-04 11:57:00 | One of the mitochondrial variants responsible for hearing loss is the m.7511T>C mutation located in the mitochondrially encoded tRNA serine 1 (UCN) gene. This is the first report on central European patients harboring the m.7511T>C mutation which reveals that the m.7511T>C may be important when diagnosing patients with maternally inherited hearing loss. | 29257206 |
2016-09-24 12:18:00 | Mitochondrial COI/tRNASer(UCN) G7444A mutation is associated with aminoglycoside-induced and non-syndromic hearing impairment. | 26497601 |
Type | IDs |
---|---|
Synonymous | MTTS1 |