Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3 (Q28293107)

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English	Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3	scientific article

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Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3 (English)

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based on heuristic

inferred from title

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based on heuristic

inferred from title

Xavier Estivill i Pallejà

5

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Mordechai Shohat

6

object named as

Mordechai Shohat

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Yelena Bykhovskaya

1

object named as

Yelena Bykhovskaya

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author name string

Emebet Mengesha

2

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Dai Wang

3

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Huiying Yang

4

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Nathan Fischel-Ghodsian

7

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publication date

November 2004

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Molecular Genetics and Metabolism

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83

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3

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199-206

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Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

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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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Candidate locus for a nuclear modifier gene for maternally inherited deafness

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Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness

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Mitochondrial RNA processing and translation: link between mitochondrial mutations and hearing loss?

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

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Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop

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Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA

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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

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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

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

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MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase

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

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A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice

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Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss

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Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

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The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene

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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

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Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

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10.1016/J.YMGME.2004.07.009

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