The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.

The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.

Item
http://www.wikidata.org/entity/Q50458044
Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing lossAn MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.High glucose uptake unexpectedly is accompanied by high levels of the mitochondrial ß-F1-ATPase subunit in head and neck squamous cell carcinoma.The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.PharmGKB summary: very important pharmacogene information for MT-RNR1.Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.Maternally transmitted aminoglycoside-induced and non-syndromic hearing loss caused by the 1494C > T mutation in the mitochondrial 12S rRNA gene in two Chinese families.Rapid screening for the mitochondrial DNA C1494T mutation in a deaf population in China using real-time quantitative PCR.The Mitochondrial COI/tRNASER(UCN) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Next-generation sequencing profiling of mitochondrial genomes in gout.
P2860

The mitochondrial tRNA(Ala) T5628C variant may have a modifying role in the phenotypic manifestation of the 12S rRNA C1494T mutation in a large Chinese family with hearing loss.

Item
http://www.wikidata.org/entity/Q50458044
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年學術文章
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2007年學術文章
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name
The mitochondrial tRNA(Ala) T5 ...... nese family with hearing loss.
@en
type
label
The mitochondrial tRNA(Ala) T5 ...... nese family with hearing loss.
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prefLabel
The mitochondrial tRNA(Ala) T5 ...... nese family with hearing loss.
@en
P1433
P1476
P2093
P304
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The mitochondrial tRNA(Ala) T5 ...... nese family with hearing loss.
@en
P2093
P304
P31
P356
10.1016/J.BBRC.2007.03.199
P407
P433
P478
P577
P698