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Gene RIF (80)

PMID Text
26343273 Data show methylation status of two mitochondrial genes MT-RNR1 and MT-RNR2 encoding for mitochondrial 12S and 16S ribosomal RNAs, respectively.
26252218 exon sequencing of GJB2, SLC26A4, and mtDNA12SrRNA reveals that non-syndromic deafness in Xiamen, China appears to have a genetic etiology
26037344 Mutations in 12S rRNA, SLC26A4, GJB2 and GJB3 are highly associated with deafness.
25251670 Contribution of GJB2, SLC26A4, and MTRNR1 mutations to Mild-to-Moderate childhood hearing impairment in Chinese Hans.
24804242 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
24660976 Differential expression of mutation m.1555A>G of the mitochondrial MT-RNR1 gene in a South Indian family with postlingual hearing loss.
24533451 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
23834103 mtDNA A1555G mutation was detected in six Tibetan, five Tu nationality, and one Mongolian subject; one Tibetan patient carried the C1494T mutation.
23357266 Mitochondrial 12S rRNA A1555G mutation is associated with nonsyndromic hearing loss Han Chinese pedigrees.
23242658 We suggested the variation of two nucleotides 1245 and 1545 that localized at conserved site of 12SrRNA may be new candidate for amino glycoside-induced and nonsyndromic hearing impairment associated mutations.
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AA Sequence

MRWQEMGYIFYPRKLR                                                            1 - 16
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Text Mined References (3)

PMID Year Title
26343273 2015 Age-and gender-related pattern of methylation in the MT-RNR1 gene.
26289118 2015 The mitochondrial-derived peptide MOTS-c: a player in exceptional longevity?
25738459 2015 The mitochondrial-derived peptide MOTS-c promotes metabolic homeostasis and reduces obesity and insulin resistance.