PubMed (OMIM) for id: 4549

Year	Number of Results
1992	1
1993	1
1994	1
1995	1
1996	1
1997	2
1998	4
1999	7
2000	3
2001	3
2002	1
2003	6
2004	5
2005	4
2006	8
2007	1
2008	2
2011	1
2017	1
2024	0

1

Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.

Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X, Guan MX. Meng F, et al. J Biol Chem. 2017 Feb 17;292(7):2881-2892. doi: 10.1074/jbc.M116.749374. Epub 2017 Jan 3. J Biol Chem. 2017. PMID: 28049726 Free PMC article.

2

Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.

Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX. Yan X, et al. J Med Genet. 2011 Oct;48(10):682-90. doi: 10.1136/jmedgenet-2011-100219. J Med Genet. 2011. PMID: 21931169

3

Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.

Dai D, Lu Y, Chen Z, Wei Q, Cao X, Xing G. Dai D, et al. Biochem Biophys Res Commun. 2008 Dec 26;377(4):1152-5. doi: 10.1016/j.bbrc.2008.10.132. Epub 2008 Nov 5. Biochem Biophys Res Commun. 2008. PMID: 18983818

4

A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment.

Chaig MR, Zernotti ME, Soria NW, Romero OF, Romero MF, Gerez NM. Chaig MR, et al. Biochem Biophys Res Commun. 2008 Apr 11;368(3):631-6. doi: 10.1016/j.bbrc.2008.01.143. Epub 2008 Feb 7. Biochem Biophys Res Commun. 2008. PMID: 18261986

5

Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.

Tang X, Yang L, Zhu Y, Liao Z, Wang J, Qian Y, Tao Z, Hu L, Wu G, Lan J, Wang X, Ji J, Wu J, Ji Y, Feng J, Chen J, Li Z, Zhang X, Lu J, Guan MX. Tang X, et al. Gene. 2007 May 15;393(1-2):11-9. doi: 10.1016/j.gene.2007.01.001. Epub 2007 Jan 24. Gene. 2007. PMID: 17341440

6

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

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N. Guan MX, et al. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.

7

Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity.

Xing G, Chen Z, Wei Q, Tian H, Li X, Zhou A, Bu X, Cao X. Xing G, et al. Biochem Biophys Res Commun. 2006 Aug 11;346(4):1131-5. doi: 10.1016/j.bbrc.2006.05.208. Epub 2006 Jun 12. Biochem Biophys Res Commun. 2006. PMID: 16782057

8

Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family.

Xing G, Chen Z, Wei Q, Tian H, Li X, Zhou A, Bu X, Cao X. Xing G, et al. Biochem Biophys Res Commun. 2006 Jun 16;344(4):1253-7. doi: 10.1016/j.bbrc.2006.04.033. Epub 2006 May 2. Biochem Biophys Res Commun. 2006. PMID: 16650816

9

Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.

Bravo O, Ballana E, Estivill X. Bravo O, et al. Biochem Biophys Res Commun. 2006 Jun 2;344(2):511-6. doi: 10.1016/j.bbrc.2006.03.143. Epub 2006 Mar 30. Biochem Biophys Res Commun. 2006. PMID: 16631122 Clinical Trial.

10

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.

Yao YG, Salas A, Bravi CM, Bandelt HJ. Yao YG, et al. Hum Genet. 2006 Jun;119(5):505-15. doi: 10.1007/s00439-006-0154-9. Epub 2006 Mar 10. Hum Genet. 2006. PMID: 16528519

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