(Q24669653)

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Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

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Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations (English)

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1 reference

based on heuristic

inferred from title

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Xavier Estivill i Pallejà

20

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object named as

Ester Ballana

17

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Ignacio del Castillo

object named as

Ignacio del Castillo

12

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object named as

Tsutomu Suzuki

11

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Mordechai Shohat

18

object named as

Mordechai Shohat

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Yelena Bykhovskaya

4

object named as

Yelena Bykhovskaya

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author name string

Min-Xin Guan

1

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Qingfeng Yan

2

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Xiaoming Li

3

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Jaime Gallo-Teran

5

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Petr Hajek

6

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Noriko Umeda

7

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Hui Zhao

8

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Gema Garrido

9

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Emebet Mengesha

10

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Jennifer Lynne Peters

13

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Ronghua Li

14

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Yaping Qian

15

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Xinjian Wang

16

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Jianxin Lu

19

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Kimitsuna Watanabe

21

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Nathan Fischel-Ghodsian

22

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language of work or name

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publication date

August 2006

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American Journal of Human Genetics

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79

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2

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291-302

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Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA

1 reference

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Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss

1 reference

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A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation

1 reference

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The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.

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MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae.

1 reference

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1 reference

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7 April 2017

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

1 reference

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Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase

1 reference

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Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation

1 reference

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Translational misreading: a tRNA modification counteracts a +2 ribosomal frameshift

1 reference

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Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease

1 reference

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Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases

1 reference

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Interaction of antibiotics with functional sites in 16S ribosomal RNA

1 reference

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7 April 2017

Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss

1 reference

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Molecular pathogenetic mechanism of maternally inherited deafness

1 reference

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Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

1 reference

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Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness

1 reference

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Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family

1 reference

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Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.

1 reference

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Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation

1 reference

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A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity

1 reference

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Candidate locus for a nuclear modifier gene for maternally inherited deafness

1 reference

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Mitochondrial deafness mutations reviewed

1 reference

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Evidence for the presence of 5S rRNA in mammalian mitochondria

1 reference

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Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides

1 reference

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Antisuppressor mutation in Escherichia coli defective in biosynthesis of 5-methylaminomethyl-2-thiouridine

1 reference

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Pharmacokinetics of aminoglycoside antibiotics in blood, inner-ear fluids and tissues and their relationship to ototoxicity

1 reference

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In vivo labeling and analysis of human mitochondrial translation products

1 reference

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Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation

1 reference

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1 reference

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Ribosomes and translation

1 reference

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Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells

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Effects of mutagenesis of a conserved base-paired site near the decoding region of Escherichia coli 16 S ribosomal RNA.

1 reference

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Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation

1 reference

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1 reference

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Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation

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1 reference

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1 reference

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based on heuristic

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1 reference

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based on heuristic

inferred from PubMed ID database lookup

Compilation of small ribosomal subunit RNA sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Novel Modified Nucleoside Found at the First Position of the Anticodon of Methionine tRNA from Bovine Liver Mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

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based on heuristic

inferred from PubMed ID database lookup

Interactions of a small RNA with antibiotic and RNA ligands of the 30S subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/16826519

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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