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4574 TRNS1

4574

TRNS1

tRNA

tRNA

Homo sapiens

基因描述

Type Description
Definition tRNA

研究结论

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

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Type IDs
Synonymous MTTS1