R03 DC004958/DC/NIDCD NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2002	2
2003	1
2004	2
2005	5
2006	1
2009	2
2010	4
2025	0

1

Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young WY, Guan MX. Yuan H, et al. Am J Med Genet A. 2005 Oct 1;138A(2):133-40. doi: 10.1002/ajmg.a.30952. Am J Med Genet A. 2005. PMID: 16152638 Free PMC article.

2

Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.

Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH Jr, Young WY, Guan MX. Wang Q, et al. Am J Med Genet A. 2005 Feb 15;133A(1):27-30. doi: 10.1002/ajmg.a.30424. Am J Med Genet A. 2005. PMID: 15637703 Free PMC article.

3

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

Zhao H, Young WY, Yan Q, Li R, Cao J, Wang Q, Li X, Peters JL, Han D, Guan MX. Zhao H, et al. Nucleic Acids Res. 2005 Feb 18;33(3):1132-9. doi: 10.1093/nar/gki262. Print 2005. Nucleic Acids Res. 2005. PMID: 15722487 Free PMC article.

4

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.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX. Zhao H, et al. Am J Hum Genet. 2004 Jan;74(1):139-52. doi: 10.1086/381133. Epub 2003 Dec 12. Am J Hum Genet. 2004. PMID: 14681830 Free PMC article.

5

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

Li X, Li R, Lin X, Guan MX. Li X, et al. J Biol Chem. 2002 Jul 26;277(30):27256-64. doi: 10.1074/jbc.M203267200. Epub 2002 May 14. J Biol Chem. 2002. PMID: 12011058 Free article.

6

Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

Tong Y, Sun YH, Zhou X, Zhao F, Mao Y, Wei QP, Yang L, Qu J, Guan MX. Tong Y, et al. Mol Genet Metab. 2010 Apr;99(4):417-24. doi: 10.1016/j.ymgme.2009.12.004. Epub 2010 Jan 6. Mol Genet Metab. 2010. PMID: 20053576 Free PMC article.

7

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.

8

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

Li X, Guan MX. Li X, et al. Mol Cell Biol. 2002 Nov;22(21):7701-11. doi: 10.1128/MCB.22.21.7701-7711.2002. Mol Cell Biol. 2002. PMID: 12370316 Free PMC article.

9

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

Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan MX. Li X, et al. Nucleic Acids Res. 2004 Feb 11;32(3):867-77. doi: 10.1093/nar/gkh226. Print 2004. Nucleic Acids Res. 2004. PMID: 14960712 Free PMC article.

10

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

Tang X, Li R, Zheng J, Cai Q, Zhang T, Gong S, Zheng W, He X, Zhu Y, Xue L, Yang A, Yang L, Lu J, Guan MX. Tang X, et al. Mol Genet Metab. 2010 May;100(1):57-64. doi: 10.1016/j.ymgme.2010.01.008. Epub 2010 Jan 25. Mol Genet Metab. 2010. PMID: 20153673

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