About: Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss

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About: Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss Goto Sponge NotDistinct Permalink

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scientific article published on 01 October 2006

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в жовтні 2006 (uk) im Oktober 2006 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'ochobre de 2006 (ast) scientific article published on 01 October 2006 (en)
publication date	wds:Q80218664-B001F382-50CD-4FB3-B8CE-881A3C491B89
publication date	2006-10-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q80218664-0AE3EF65-1784-4614-877A-C856084B62B7 wds:Q80218664-6C061041-EE04-46F3-B998-ED473612445C wds:Q80218664-6DA8F894-9254-46E6-A7B8-497328105514 wds:Q80218664-80CDF870-ADF1-400B-96CD-81D9D965DF85 wds:Q80218664-88F54854-9C0B-4E8B-87D8-A272788B3D79 wds:Q80218664-B06010AA-FC95-46CC-9A3C-041EEBA13946 wds:Q80218664-BF8154DA-1733-431A-A2FA-754744CACFB3 wds:Q80218664-C8438FFC-E248-4859-A16F-6380C3BCB271 wds:Q80218664-D746BA28-71F2-4AAB-88F9-36FEB3C80976 wds:Q80218664-FB332986-5945-4A05-A119-0892F7DAF112
author name string	Jing Chen Min-Xin Guan Ronghua Li Yaping Qian Lidong Zhao Huijun Yuan Pu Dai Suoqiang Zhai Dongyi Han Wie-Yen Young
rdfs:label	Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss (en) Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss (nl)
skos:prefLabel	Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss (en) Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss (nl)
name	Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss (en) Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss (nl)
title	wds:Q80218664-7FAE7196-3692-408F-A7E2-51EC913DB730
title	Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss (en)
page(s)	wds:Q80218664-75F310FB-55C3-4D7C-B5A0-334E9AB270B0
page(s)	2188-2197
instance of	wds:Q80218664-75E7E3AD-B6DB-47DB-801F-50F9D43C6C5F
instance of	scholarly article
main subject	wds:Q80218664-C65E74FA-3BB3-41BE-BC51-3E0CBFF1968D wds:Q80218664-ED2178FA-E824-482E-8607-934B258DE1BF
main subject	deafness hearing loss
PubMed ID	wds:Q80218664-D31232DE-DDA1-4934-BC55-CB9E1ED7E9C8
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16955413
PubMed ID	16955413
published in	wds:Q80218664-7F705EA2-5745-4E1D-8705-2F0C79E6AC40
published in	American Journal of Medical Genetics
issue	wds:Q80218664-DA182F38-7EE4-4068-AD59-D7B5BD2D3364
volume	wds:Q80218664-E91DA7B9-6FE2-41EF-8B1F-D17F09CA26E0
issue	20
volume	140
DOI	wds:Q80218664-1369657A-B504-4B2B-9203-D7A58F8D7F37
DOI	http://dx.doi.org/10.1002/AJMG.A.31434
DOI	10.1002/AJMG.A.31434
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q80218664
is cites work of	Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation Human hereditary hearing impairment: mouse models can help to solve the puzzle Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrial tRNA(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family Distilling artificial recombinants from large sets of complete mtDNA genomes Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects Mitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins The genetic bases for non-syndromic hearing loss among Chinese Modifiers of hearing impairment in humans and mice Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology. PharmGKB summary: very important pharmacogene information for MT-RNR1. Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation. NUMT Confounding Biases Mitochondrial Heteroplasmy Calls in Favor of the Reference Allele Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family Mutational analysis of mitochondrial tRNA genes in patients with lung cancer 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?
is cites work of	wds:Q35095720-382DEBAA-E557-4659-AB5C-D671492C552B wds:Q36551100-7975992C-E0BE-4457-98A6-B4F272610A2E wds:Q37309645-524480CB-1E2D-46AB-A4FE-B82FC5315DC0 wds:Q36031780-6773983C-D8A5-4DA0-99E0-E6992DEFF0C1 wds:Q37455749-5421C2E5-F08A-4397-A99C-3981DA535195 wds:Q43666060-BA84B59D-0BAC-4BA7-9596-0EECF9955A86 wds:Q37689992-9295CBEA-D373-4E22-AF0D-FA2F2F1CA898 wds:Q35689759-8161A507-EA3E-4A95-B5AC-FF868B908B6D wds:Q37228847-05A80952-07E8-4E7F-A4BD-B8AC2D100EDC wds:Q37265644-78053270-F5E9-4DFD-ACE6-42F9BA167249 wds:Q90706656-F996F22A-56A6-4223-99A0-B5BBAC17C597 wds:Q47653533-AE4B6B7C-A4DE-416F-A7AE-33C73E2401A0 wds:Q30478361-AD8024E0-0441-4EFA-B73A-24FAEAFFB8EA wds:Q33729752-F3504DBB-E4AA-412F-A0BA-3AD78D1505EB wds:Q51718066-BB3E7812-B59E-443C-A99B-760F4EA298BE wds:Q33361663-972B591A-25A5-44BE-95F8-1CDE61BE3A1E wds:Q31083642-6985276D-EE8A-494D-BD72-DBB98BDA6DDB wds:Q36054556-D842100E-DE0B-4FBC-B84F-DA66D652D1CA wds:Q33346003-582B168C-3CA4-4597-B90E-9BD517AD11BB

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