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UnknownClinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.
Not available
S-EPMC8613315 | biostudies-literature
UnknownIncreased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.
Not available
S-EPMC11155076 | biostudies-literature
UnknownA Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 through Next-Generation Sequencing Off-Target Data.
Not available
S-EPMC7408883 | biostudies-literature
ProteomicsMitochondrial ribosomal RNA is the target of functionally dominant hotspot mutations in cancer
The vast majority of recurrent somatic mutations arising in tumors affect protein-coding genes in the nuclear genome. Here, through population-scale analysis of 14,079 whole tumor genomes, we report the discovery of highly recurrent mutations affecting both the small (12S, MT-RNR1) and large (16S, M...
ORGANISM(S): Homo sapiens (Human) 
2025-09-11 | PXD057390 | Pride
Mitochondrial dna mutation Heteroplasmy Cancer Mt-rnr1 M.1227g>a 
UnknownDownregulation of lncRNA ZNF582-AS1 due to DNA hypermethylation promotes clear cell renal cell carcinoma growth and metastasis by regulating the N(6)-methyladenosine modification of MT-RNR1.
Not available
S-EPMC7945252 | biostudies-literature
UnknownMachine learning-based genetic diagnosis models for hereditary hearing loss by the GJB2, SLC26A4 and MT-RNR1 variants.
Not available
S-EPMC8237285 | biostudies-literature
GenomicsExpanded carrier screening by next generation sequencing
Investigation of GJB2, SLC26A4, MT-RNR1, SLC26A4, PAH, HBA, MMACHC, MUT, PTS and HBB variants by next generation sequencing
ORGANISM(S): Homo Sapiens 
2021-12-17 | PRJEB49380 | EVA
UnknownThe mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome.
Not available
S-EPMC10477912 | biostudies-literature
UnknownMutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.
Not available
S-EPMC4410458 | biostudies-literature
ProteomicsMitochondrial ribosomal RNA is the target of functionally dominant hotspot mutations in cancer
The vast majority of recurrent somatic mutations arising in tumors affect protein-coding genes in the nuclear genome. Here, through population-scale analysis of 14,079 whole tumor genomes, we report the discovery of highly recurrent mutations affecting both the small (12S, MT-RNR1) and large (16S, M...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2024-11-05 | MSV000096292 | MassIVE
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