| Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome. | Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
Wu YT, Huang SC, Shiao YM, Syu WC, Wei YH, Hsu YC. | 09/19/2023 |
| Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing. | Detecting mitochondrial mutations associated with aminoglycoside ototoxicity by noninvasive prenatal testing.
Huang Q, Liu Y, Lei W, Liang J, Wang Y, Zheng M, Huang X, Liu Y, Huang K, Huang M., Free PMC Article | 01/21/2023 |
| MOTS-c promotes muscle differentiation in vitro. | MOTS-c promotes muscle differentiation in vitro.
García-Benlloch S, Revert-Ros F, Blesa JR, Alis R. | 08/13/2022 |
| Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics. | Impact of an MT-RNR1 Gene Polymorphism on Hepatocellular Carcinoma Progression and Clinical Characteristics.
Lin YH, Chu YD, Lim SN, Chen CW, Yeh CT, Lin WR., Free PMC Article | 09/4/2021 |
| A pro-diabetogenic mtDNA polymorphism in the mitochondrial-derived peptide, MOTS-c. | A pro-diabetogenic mtDNA polymorphism in the mitochondrial-derived peptide, MOTS-c.
Zempo H, Kim SJ, Fuku N, Nishida Y, Higaki Y, Wan J, Yen K, Miller B, Vicinanza R, Miyamoto-Mikami E, Kumagai H, Naito H, Xiao J, Mehta HH, Lee C, Hara M, Patel YM, Setiawan VW, Moore TM, Hevener AL, Sutoh Y, Shimizu A, Kojima K, Kinoshita K, Arai Y, Hirose N, Maeda S, Tanaka K, Cohen P., Free PMC Article | 07/17/2021 |
| MOTS-c reduces myostatin and muscle atrophy signaling. | MOTS-c reduces myostatin and muscle atrophy signaling.
Kumagai H, Coelho AR, Wan J, Mehta HH, Yen K, Huang A, Zempo H, Fuku N, Maeda S, Oliveira PJ, Cohen P, Kim SJ., Free PMC Article | 05/29/2021 |
| The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. | The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW, Wang JC, Wang SY, Li SJ, Zhu YM, Ding WJ, Xu CY, Duan L, Xu BC, Guo YF. | 12/26/2020 |
| Heteroplasmic transition of A to G at position 1555 of MT-RNR1 gene was identified in all affected individuals co-existing with nuclear c.28G>T (p.A10S) variant in the TRMU gene, only in some patients with hereditary non-syndromic hearing loss of variable severity. | Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.
Khatami S, Rokni-Zadeh H, Mohsen-Pour N, Biglari A, Changi-Ashtiani M, Shahrooei M, Shahani T. | 08/17/2019 |
| In this study, a total of 86 patients harbored m.1555A > G (17.00%, 86/ 506) and two patients carried m.1494C > T (0.40%, 2/506). | Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Xiang YB, Tang SH, Li HZ, Xu CY, Chen C, Xu YZ, Ding LR, Xu XQ. | 08/3/2019 |
| MTRNR1 mutation is associated with aminoglycoside-induced deafness. | The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence.
Igumnova V, Veidemane L, Vīksna A, Capligina V, Zole E, Ranka R. | 04/13/2019 |
| Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G. | Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China.
Yu H, Liu D, Yang J, Wu Z. | 12/1/2018 |
| This review provides information on the pharmacogenetics of MT-RNR1, preceded by a brief synopsis of the mitochondrial genetic system and associated diseases. | PharmGKB summary: very important pharmacogene information for MT-RNR1.
Barbarino JM, McGregor TL, Altman RB, Klein TE., Free PMC Article | 02/3/2018 |
| results demonstrate that 19.2% patients with nonsyndromic deafness were caused by mutations in three common deafness genes (GJB2, SLC26A4 and 12S rRNA) in our northern China patient group | Mutation analysis of common GJB2, SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China.
Pan J, Xu P, Tang W, Cui Z, Feng M, Wang C. | 09/9/2017 |
| The prevalence of 12S rRNA mutations related to aminoglycoside ototoxicity in our study population was approximately one percent. | Genetic mutations and aminoglycoside-induced ototoxicity in neonates.
Johnson RF, Cohen AP, Guo Y, Schibler K, Greinwald JH. | 02/10/2017 |
| Observational study of gene-disease association and genetic testing. (HuGE Navigator) | Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss.
Kato T, Nishigaki Y, Noguchi Y, Ueno H, Hosoya H, Ito T, Kimura Y, Kitamura K, Tanaka M. | 02/10/2017 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Aminoglycoside ototoxicity in Nicaraguan children: patient risk factors and mitochondrial DNA results.
Saunders JE, Greinwald JH, Vaz S, Guo Y. | 02/10/2017 |
| Observational study of genotype prevalence and genetic testing. (HuGE Navigator) | Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities.
Wu CC, Chen PJ, Chiu YH, Lu YC, Wu MC, Hsu CJ. | 02/10/2017 |
| Data show methylation status of two mitochondrial genes MT-RNR1 and MT-RNR2 encoding for mitochondrial 12S and 16S ribosomal RNAs, respectively. | Age-and gender-related pattern of methylation in the MT-RNR1 gene.
D'Aquila P, Giordano M, Montesanto A, De Rango F, Passarino G, Bellizzi D. | 08/13/2016 |
| exon sequencing of GJB2, SLC26A4, and mtDNA12SrRNA reveals that non-syndromic deafness in Xiamen, China appears to have a genetic etiology | Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
Jiang Y, Huang S, Deng T, Wu L, Chen J, Kang D, Xu X, Li R, Han D, Dai P., Free PMC Article | 05/28/2016 |
| Mutations in 12S rRNA, SLC26A4, GJB2 and GJB3 are highly associated with deafness. | [Analysis of common mutations of deafness-related genes in 2725 newborns].
Yu H, Liu D, Yang J, Wu Z, Sun D, Ma W. | 08/15/2015 |
| Contribution of GJB2, SLC26A4, and MTRNR1 mutations to Mild-to-Moderate childhood hearing impairment in Chinese Hans. | Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans.
Chai Y, Pang X, Chen D, Li L, Chen Y, Sun L, Wang X, Wu H, Yang T. | 07/25/2015 |
| The prevalence of mtDNA 12S rRNA A1555G homozygous mutations was 6.05%, 3.27%, and 1.44% in Han Chinese, Hui people, and Uyghur participants (chi(2) = 13.9, P < 0.05), respectively | Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities.
Du W, Wang Q, Zhu Y, Wang Y, Guo Y., Free PMC Article | 01/10/2015 |
| Differential expression of mutation m.1555A>G of the mitochondrial MT-RNR1 gene in a South Indian family with postlingual hearing loss. | Complete mitochondrial genome analysis and clinical documentation of a five-generational Indian family with mitochondrial 1555A>G mutation and postlingual hearing loss.
Subathra M, Selvakumari M, Ramesh A, Ramakrishnan R, Karan KR, Kaur M, Manikandan M, Srikumari Srisailapathy CR. | 12/20/2014 |
| study analyzed 5 heteroplasmy pedigrees with hearing loss and the A1555G mutation; results suggest large random shifts in heteroplasmy level between mothers and offspring with the A1555G mutation; heteroplasmy level may be one of the factors influencing penetrance of deafness caused by the mtDNA A1555G mutation | Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.
Zhu Y, Huang S, Kang D, Han M, Wang G, Yuan Y, Su Y, Yuan H, Zhai S, Dai P., Free PMC Article | 06/28/2014 |
| mtDNA A1555G mutation was detected in six Tibetan, five Tu nationality, and one Mongolian subject; one Tibetan patient carried the C1494T mutation. | Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China.
Yang XL, Bai-Cheng X, Chen XJ, Pan-Pan B, Jian-Li M, Xiao-Wen L, Zhang ZW, Wan D, Zhu YM, Guo YF. | 04/12/2014 |