| Type | Description |
|---|---|
| Definition | tRNA |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 10:45:00 | Study in transmitochondrial cybrid model of MELAS (100% m.3243A>G mutant mitochondrial DNA) provides cutting-edge information on the involvement of microRNAs (miRNAs) in the cell response to the mitochondrial dysfunction associated with mutation m.3243A>G in mitochondrial tRNA Leu(UUR) gene. Some miRNAs are direct regulators of fetal cardiac genes such which are up-regulated in MELAS cybrids. | 29928977 |
| 2018-07-21 11:49:00 | A missense mutation in TRNL1 associated with familial hematuria in a family with focal segmental glomerulosclerosis. | 29138824 |
| 2018-05-05 11:13:00 | Data suggest that subjects with point mutation 3243A>G in mtRNA-Leu(UUR) develop MIDD (maternally inherited diabetes and deafness); as compared to patients with T1DM (type 1 diabetes mellitus) or early-onset T2DM (type 2 diabetes mellitus) matched for sex, age, duration of diabetes, such MIDD patients have highest rate of osteoporosis. | 28599824 |
| 2017-12-16 12:23:00 | we present comprehensive clinical and laboratory data for 50 individuals with the m.3243A> G MTTL1 mutation, as well as information focusing specifically on the sequence of symptoms. | 27296531 |
| 2017-09-16 11:56:00 | Data suggest that a mutation in tRNA(Leu)(UUR) (3253 T->C) in mitochondrial DNA is associated with maternally inherited hypertension in a Han Chinese family; this mutation alters the conformation, stability, and function of tRNA(Leu); tRNA(Leu) with mutation 3253 T->C exhibits 35% reduction in aminoacylation efficiency as compared to control. | 28679533 |
| Type | IDs |
|---|---|
| Synonymous | MTTL1 |